Eponymous Clinical Syndromes

7/24/2019 Eponymous Clinical Syndromes

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Addison's Disease

AKA:Adrenocortical insufficiency

Clinical:Weakness, fatigueability, weight loss, anorexia, hypotension

Syndromes of multiple autoimmune disorders that include Addison's Disease fall into two subtypes:

!2/3 of triad of Addison's, hypoparathyroidism and mucocutaneous candidiasis

!Schmidt's Syndrome

Adrenogenital Syndrome

Clinical:Masculinization in women, feminization in men and precocious puberty in children

Pathophysiology:Adrenal virilism realted to enzymatic defects in biosynthesis of cortical steroids leading tocortisol deficiency: at least 8 distinctive syndromes including 21-hydroxylase deficiency, 11-hydroxylase deficiency

Micro:Adrenocortical hyperplasia

Adrenoleukodystrophy

Clinical:Onset later thanother leukodystrophies (Metachromaticand Krabbe's Disease). Males ages 10-20,Females 20-40.

Presents with adrenal failure and segmental demyelinization and axonal degeneration of CNS.

Transmission:X linked recesive

Pathophysiology:Defect in fatty acyl-coenzyme A ligase (a peroxismal transporter enzyme) leads to accumulationof long-chain fatty esters of cholesterol.

EM:Cytoplasmic inclusions of dense, long, thin leaflets enclosing an electron-lucent space in cerebralmacrophages, adrenocortical cells, testicular Leydig cells and Schwann cells

Adult Respiratory Distress Syndrome (ARDS)

AKA:Diffuse Alveolar Damage (DAD)

Clinical:Severe respiratory deficiency, tachycardia, cyanosis, severe arterial hypoxemia

Pathophysiology:Many etiologies: shock, sepsis,

Micro:Diffuse alveolar capillary damage with hyaline membranes and type II pneumocyte regeneration

Alagille's Syndrome

AKA:Arterio-hepatic dysplasia

Clinical:Broad facies, hypertelorism, short stature, butterfly vertebrae, mental retardation, hypogonadism,pulmonary artery stenosis

Transmission:AD, association with Trisomy 21, 18, 17; 45XO

Cytogenetics:Mutation in gene Jagged1 on chromosome 20p, encodes ligand for Notch1, which plays a role inepithelial-mesenchymal interactions

Micro:Congenital absence of intrahepatic bile ducts, portal tract fibrosis, neonatal giant cell hepatitis

Albers-Schnberg Disease

AKA:Osteopetrosis, Marble-bone disease

Clinical:Malignant AR form evident in utero or soon after birth: fractures, anemia, hydrocephaly, cranial nerveproblems (optic atrophy, deafness, facial paralysis), repeated infections, HSM (from extramedullary hematopoiesis).

AD benign adult form usually detected in adolesence or adulthood on X-rays of repeated fractures. Milder cranial

nerve deficits and anemia.

Transmission:Malignant AR evident in utero or infancy; AD adult form has a benign course

Pathophysiology:Carbonic anhydrase II deficiency required by osteoclasts and renal tubular cells to acidify theirenvironment; osteoclasts can't generate superoxide.

Diagnosis:Radiographic features characteristic: diffusesclerosis and distal metaphyses misshapen

Gross:Overgrowth and sclerosis of bone with marked thickening of cortex and narrowing/filling of medullarycavity. Ends of long bones are bulbous (Erlenmyer flask deformity) and misshapen. The neural formamina are small

and compress existing nerves.

Micro:Spongiosa persists and there is no room for hematopoetic marrow. Bone that forms is not remodeled,remains woven.

Treatment:Some benefit from IFN-g, bone marrow transplant.

Albright's Syndrome

AKA:McCune-Albright Syndrome

Alkaptonuria

AKA:Ochronosis

Alport's Syndrome

Mneumonic:NEDH

Clinical:Nephrotic syndrome, Eye abnormalities (lens dislocation, posterior cataracts, corneal dystrophy), nerveDeafness, Hematuria. Males are affected more frequently and more likely to progress. Symptoms appear betweenages 5 and 20 usually with microscopic hematuria. Renal failure occurs by age 20-50 in med. Auditory defects may

be subtle.

Pathophysiology:Defective GBM synthesis due to mutations in a5 chain of collagen IV (COL4A5 gene), X linkedform associated with diffuse leiomyomatosis has additional mutations in a6 chain. AR transmission associated with

mutations in a3 and a4 chains.

Diagnosis:Skin biopsy also shows lack of a5 collagen staining

Transmission:Most X-linked, Xq22, but AR and AD pedigrees exist
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Micro:Early lesion: segmental proliferation or sclerosis with an increase in mesangial matrix and persistence offetal-like glomeruli. Later: tubular epithelial foam cells and increasing glomerulosclerosis.

EM:GBM shows irregular thickening and thinning with splitting of lamina densa

Stains:Antibodies to a3, a4, and a5 collagen fail to stain both glomerular and tubulat basement membranes

Angelman Syndrome

Clinical:"Happy puppets": mental retardation, ataxic gait, seizures, inappropriate laughter

Cytogenetics:Maternal imprinting of chromosome 15; del(15)(q11q13)

Angiokeratoma Corporis Diffusum Universalis

AKA:Fabry's Disease

Arnold-Chiari Malformation

Mneumonic:CHASM(Cerebellum protrudes, Hydrocephalus, Spinal dysraphism, Medulla kinked)

Pathophysiology:Disproportionate growth of posterior fossa

Gross:Type I: benign cerebellar tonsillar herniation

Type II: small posterior fossa with extreme cerebellar tonsillar herniation through foramen magnum, kinked cervical

spinal cord, tegmental beaking, lumbosacral meningomyelocele, 80% hydrocephalus

Asherman's Syndrome

Mneumonic:AAA

Clinical:infertility (Abortions), Adhesions, Amenorrhea, associated with excessive dilatation and curettage (D&C).

Gross:endometrial synechiae

Ataxia Telangiectasia

AKA:AT

Clinical:cerebellar ataxia, immunodeficiency, sensitivity to ionizing radiation, lymphoid malignanciesIncreased risk of NHL, leukemia, brain tumors, gastric cancer, breast cancer (11% chance by age 50 in

heterozygotes)

Transmission:AR; 1% of population is a carrier

Pathophysiology:AT protein (ATM gene) is a sensor of DNA damage; absence leads to defective DNA repair andaccelerated cell aging

Micro:Gradual loss of Purkinje cells in the cerebellum

Basal Cell Nevus Syndrome

AKA:Gorlin's Syndrome

Banti Syndrome

Clinical:recanalization of an ectatic portal vein and associated splenomegaly, anemia, splenic vein thrombosis;usually occurs years after an occlussive event (e.g. neonatal omphalitis or umbilical vein catheterization).

Bare Lymphocyte Syndrome

Pathophysiology:Lack of MHC Class I or both Class I & II HLA antigens resulting in varying immunodeficiency

Bartonellosis

AKA:Carrion's DiseaseClinical:Acute febrile fever (oroya fever) associated with hemolytic anemia and hepatosplenomegaly followed bynodular, inflammatory lesions consisting of inflammatory cells

Pathophysiology:Bartonella bacilliformis, carried by sandfly vector

Bartter's Syndrome

Clinical:Polyuria with K+ wasting and metabolic alkalosis

Pathophysiology:Secondary hyperaldosteronism from renin overproduction

Diagnosis:Hyperreninemia, Hyperaldosteronemia, Hypokalemia, Metabolic alkalosis, serum HCO3, urine Cl-

Micro:Juxtaglomerular cell hyperplasia

Basal Cell Nevus Syndrome

AKA:Gorlin's Syndrome

Bechet's Disease

Mneumonic:CAVE(CNS, Apthous ulcers/Autoimmune, Vasculitis/Venous thrombosis, Eye

Clinical:young males with hypopyon, uveitis, iridocyclitis, oral/genital aphthous ulcers, arthritis, inflammatorybowel disease

Pathophysiology:immune complex mediated, leukocytoclastic vasculitis

Treatment:Chlorambucil

Beckwith-Wiedemann Syndrome

Clinical:macrosomia, macroglossia, exopthalmos, neonatal hypoglycemia, hemihypertrophy, renal medullary cysts,
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adrenal cytomegaly; increased risk of Wilms' tumor, hepatoblastomas, adrenocorticoid tumors, rhabdomyosarcoma,

pancreatic tumors. (see alsoDenys-Drash Syndromeand WAGR Syndromefor other Wilms' tumor associated

syndromes)

Transmission:AR, gene WT-2 on 11p15.5; uniparental disomy in sporadic cases

Berger's Disease

AKA:IgA nephropathy

Micro:Segmental, diffuse or crescentic glomerulonephritis

IF:IgA deposits in mesangium

Bernard-Soulier Syndrome

Clinical:purpura, epistaxis, gingival bleeding, menorrhagia, hematuria, GI bleeding

Pathophysiology:GPIb/V/IX deficiency on platelet surface; affected platelets can't bind vWF

Transmission:AR

Diagnosis:Normal platelet aggregation with ADP, collagen, epinephrine but lack of aggregation with ristocetin

Micro:Large platelets (2-5x normal), reduced numbers

Binswanger's DiseaseAKA:subcortical leukoencephalopathy

Clinical:Hypertensive patients with progressive dementia

Micro:Diffuse loss of deep hemispheric white matter

Bloom Syndrome

Clinical:Leukemia, GI carcinoma

Transmission:AR

Pathophysiology:spontaneous chromatid breakage

Bourneville's Disease

AKA:Tuberous Sclerosis

Bouttonneuse Fever

Clinical:Rickettsial disese in Mediterranean/India, promintn eschar and "tache noire"

Pathophysiology:Rickettsia conorii

Transmission:tick bite

Breakbone FeverAKA:Dengue Fever

Clinical:gnawing bone pain

Brill-Zinsser Disease

Clinical:Typhus group (no eschar) Rickettsial disease; similar to epidemic typhus but milder

Pathophysiology:Rickettsia prowazekii, late reactivation

Brittle Bone Disease

AKA:Osteogenesis ImperfectaClinical:Bone fragility, fractures, blue sclera, bony abnormalities in middle and inner ear, abnormal teeth

Pathophysiology:Hereditary disorders of collagen synthesis, mainly type I collagen (90% of bone matrix)

Bruton's Agammaglobulinemia

Transmission:X-linked

Pathophysiology:Defective B cell maturation

Diagnosis:Near-total absence of immunoglobulins in serum

Budd Chiari SyndromeMneumonic:HAT(Hepatomegaly, Ascites/Abdominal pain, Thrombus)

AKA:Hepatic vein thrombosis

Clinical:ascites, portal hypertension, varices

Pathophysiology:Associated with polycythemia vera, pregnancy, postpartum, OCPs, paroxysmal nocturnalhemoglobinuria, intraabdominal CA (particularly hepatoma), infections, trauma, membranous webs.

Buerger's Disease

AKA:Thromboangiitis obliterans

Clinical:Male smokers

Micro:Thromboangiitis obliterans with segmenta; thrombosing acute and chronic inflammation of intermediate andsmall arteries and veins of the extremities.

Byler Disease
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Transmission:AR

Pathophysiology:impairment of bile acids and phosphotidylcholine secretion leading to progressive intrahepaticcholestasis

Byssinosis

Clinical:Pulmonary disorder caused by dust from cotton, flax or hemp. Takes form more like asthmatic bronchitis.

Caisson Disease

AKA:"The bends", decompression sickness

Clinical:Scuba divers

Pathophysiology:Sudden changes in atmospheric pressure cause nitrogen to come out of fluid and the resultingembolisms lead to multiple foci of ischemic necrosis

Caplan's Syndrome

Clinical:pulmonary rheumatoid arthritis with pneumoconiosis; distinctive nodular pulmonary lesions on CXR thatdevelop rapidly.

Pathophysiology:Seen in silicosis, asbestosis, other dust-caused pneumoconioses

Micro:pulmonary rheumatoid nodules with central necrosis surrounded by fibroblasts, macrophages, and collagen

in a background of progressive massive fibrosis

Carcinoid Syndrome

Clinical:blushing, flushing, diarrhea, cutaneous angiomas, tricuspid valve and pulmonary valve stenosis, bronchialspasm

Pathophysiology:serotonin, 5-HIAA release from carcinoid tumors that have metastasized to the liver

Carney's Syndrome

Clinical:cutaneous and soft tissue myxomas, cardiac myxomas, skin pigmentation, adrenal lesions

Carney's Triad

Clinical:GISTs/leiomyoblastomas

Pulmonay Chondromas

Extra-Adrenal Paragangliomas

Caroli's Disease

Clinical:Congenital intrahepatic biliary dilatation; 25% associated with polycyctic kidney. Increased risk ofcholangiocarcinoma. Often complicated by intrahepatic cholelithiasis, cholangitis, hepatic abscesses and portal

HTN.

Transmission:AR

Micro:communicating cavernous biliary ectasia; may be seen in conjunction with congenital hepatic fibrosis

Carrion's Disease

AKA:Bartonellosis

Castleman's Disease

Clinical:Lymphadenopathy, fever, multiorgan dysfunctionOften seen in patients with POEMS

Diagnosis:Hypergammaglobulinemia

Chaga's Disease

AKA:American trypanosomiasis

Clinical:Myocarditis (America), Megaesophagus and megacolon (Brazil)

Pathophysiology:T. cruzi

Charcot-Buchard Aneurysm

Clinical:microaneurysms that form at bifurcations of small intraparenchymal cerebral arteries (lenticulostriate

arteries) due to hypertension which may rupture and cause spontaneous intracerebral hemorrhages (basal ganglia,pons, cerebellum)

Charcot-Marie-Tooth Disease

AKA:peroneal muscular atrophy; hereditary sensory motor neuropathy Type I

Clinical:Wasting and weakness of lower leg and foot giving characteristic inverted "champagne bottle limb."

Transmission:AD

Pathophysiology:demyelination

Micro:onion bulb nerves

Chediak-Higashi Syndrome

Mneumonic:CAMP(Chemotaxis, AR, Microtubules, Phagocytosis)

Clinical:Neutropenia, albinism, HSM, lymphadenopathy, nerve defects, bleeding diathesis

Transmission:AR
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Pathophysiology:Abnormal PMN peroxidase granules, impaired chemotaxis and phagocytosis from defect inmicrotubute polymerization. Reduced transfer or lysosomal enzymes to phagocytic vacuoles, melanocytes, nerves

and platelets.

Diagnosis:Neutrophils have giant granules on peripheral blood smear. Hct, Plt,

Chiari-Frommel Syndrome

Clinical:Post-partum patients in which continued secretion of prolactin from the pituitary inhibits reinstitution ofmenstrual cycle.

Micro:Atrophic vaginal smear.

Chronic Granulomatous Disease

Clinical:Recurrent lymphadenopathy, HSM, rash, recurrent bacterial infections of lung

Transmission:60% X linked (membrane component), 40% AR (cytoplasmic component)

Pathophysiology:Defect in genes encoding NADPH oxidase!abnormality in H2O2generation.

Diagnosis:Hct, WBC, IgG

Micro:Bowel with LGV like findings

Churg-Strauss Syndrome

Mneumonic:VEGA(Vasculitis, Eosinophilia, Granulomas, Asthma)

AKA:allergic granulomatous angiitis

Clinical:asthma, fever, eosinophilia

Micro:Eosinophil-rich and granulomatous inflammation involving the respiratory tract. Necrotizing vasculitisaffecting small to medium-sized vessels.

Diagnosis:pANCA positive

Cockayne Syndrome

Clinical:Rare disease characterized by premature aging

Pathophysiology:DGenetic instability in somatic cells

Conn's Syndrome

Mneumonic:HANK(Hypertension, Aldosterone/Adenoma, Neuromuscular weakness, K+ wasting) - this has beenon more than one exam

AKA:Primary aldosteronism

Clinical:edema, HTN65% caused by adenoma, 35% caused by adrenal hyperplasia,


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AKA:familial non-hemolytic jaundice

Clinical:two typesI. AR: severe, kernicterus, pale yellow stool, bile bilirubin glucouronide -, not phenobarb responsive

II. AD: moderate and variable, normal stool, bile bilirubin glucouronide +, phenobarb responsive

Pathophysiology:impaired conjugation of bilirubin by the liver due to absent (Type I) or deficient (Type II)glucoronyl transferase(AKA: uridine diphosphate glucoronyltransferase or UGT) leading to an unconjugated

hyperbilirubinemia

Treatment:Type II responds to phenobarbital

Cronkhite-Canada SyndromeMneumonic:JAHN(Juvenile polyps, Alopecia, Hyperpigmentation, Nail atrophy)

Clinical:hamartomatous GI polyps, diffuse alopecia, nail dystrophy, hyperpigmentation

Crouzon's Syndrome

AKA:Craniofacial dysostosis

Cushing's Syndrome

AKA:hypercortisolism; Cushing's Disease when caused by a pituitary adenoma.

Clinical:central obesity, moon facies, acne, buffalo hump, hirsutism, amenorrhea, striae, hypertension, mentalstatus changes

Pathophysiology: adrenocortical secretion of cortisol caused by ACTH levels caused by pituitary adenoma,

neoplasms of the adrenal cortex or ectopic ACTH from a neuroendocrine tumor (bronchogenic CA, malignant

thymoma, islet cell tumor), may be iatrogenic (steroid Rx).

Dandy-Walker Malformation

Pathophysiology:failure of formation of cerebellar vermis

Gross:no room to 4th ventricle, hydrocephalus, polymicrogyria

del Castillo SyndromeClinical:Galactorrhea following termination of birth control usage.

Pathophysiology:Pituitary shut-down of FSH and LH production.


Dense Deposit Disease

AKA:Type II Membranoproliferative glomerulonephritis

IF:C3 in mesangial rings but not in dense deposits

EM:dense deposits in GBM

Denys-Drash Syndrome

Clinical:gonadal dysgenesis (male pseudohermaphroditism) and nephropathy leading to renal failure; increasedrisk of Wilms' tumor. (see also WAGR SyndromeandBeckwith-WiedemannSyndromefor other Wilms' tumor

associated syndromes)

Transmission:AD

Cytogenetics:11p13 (WT1)

Pathophysiology:negative missense mutation

Dercum's Disease

AKA:adiposis dolorosa

Dermatomyositis

Clinical:autoimmune inflammatory myopathy, commonly associated with Scleroderma, SLE, Sjogren's. Increasedrisk of visceral malignancy. (lung, stomach, ovary)

Devic's Disease

Clinical:A variant of Multiple Sclerosis (neuromyelitis optica) in which the typical MS plaques coexist withnecrotic lesions in the spinal cord and demyelination in the optic nerve.

Diamond-Blackfan Anemia

AKA:congenital chronic pure red cell aplasia

Clinical:presents at 2 weeks-1 year

Pathophysiology:Defective erythroid-committed stem cells

Di George Syndrome

Mneumonic:CATCH 22(Cardiac abnormalities, Abnormal facies, Tcell deficit/tetany, Cleft palate,Hypocalcemia from parathyroid hypoplasia, chromosome 22q11)

AKA:Thymic hypoplasia; 22q11 deletion syndrome (includes velocardiofacial syndrome)

Clinical:Recurrent fungal and viral infections, tetany, risk of squamous cell ca or upper respiratory tract

Patients with partial DiGeorge Syndrome have a small but histologically normal thymus and T cell function

improves with age.

Transmission:AD
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Pathophysiology: Failure of third and fourth pharyngeal pouches, loss of T cell mediated immunity

Diagnosis:Low levels of circulating T cells. Deletion 22q11 (90%)

Gross:Absence of thymus, parathyroids, clear cells of thyroid, heart and great vessels (ultimobrachial body)

Di Gugliemo Syndrome

AKA:erythremic myelosis, erythromeloblastic leukemia, AML M6

Down Syndrome

AKA:Trisomy 21

Clinical:flat facial profile, oblique palpebral fissures and epicanthic folds, mental retardation (severe in 80%), 40%have congenital heart disease (endocardial cushion defects: ostium primum, ASD, AV valve malformations, VSD),

atresias of esophaus and small intestine; risk of acute leukemia (10-20x) ALL & AML; age>40 yo develop

neuropathic changes similar to Alzheimer's disease; abnormal immune responses (lung infections, thyroid

autoimmunity)

Cytogenetics:95% have trisomy 21; most common cause is meiotic nondisjunction; 95% extra chromosome ismaternal origin;

4% of cases from a robertsonian translocation (familial); 1% are mosaics as a result of mitotic nondisjunction of

chrom 21.

facial, neurologic and cardiovascular changes limited to 21q22.2 and 21q22.3

Prognosis:80% survive to age 30 or beyond

Dressler's Syndrome

Clinical:Occurs 2-21 weeks s/p MI, cardiac trauma or cardiotomy: fever, pleuritis, pericarditis, pneumonitis,arthritis, leukocytosis

Pathophysiology:autoimmune pericarditis

Dubin Johnson Syndrome

Mneumonic:BCP(Bilirubin, Conjugated, Pigmentation - liver)

AKA:black liver disease

Transmission:AR

Pathophysiology:absence of glucouronyl transferase leads to defects in bile canalicular transport

Diagnosis:conjugated hyperbilirubinemia

Gross:Dark-gray pigmented liver

Eaton-Lambert Syndrome

AKA:myasthenic syndrome

Clinical:progressive proximal muscle weakness without cranial muscle weakness; associated with oat cellcarcinoma

Diagnosis: action potential with repetitive stimulation

Treatment:Guanidine

Edward's Syndrome

AKA:Trisomy 18

Clinical:overlapping fingers, renal and cardiac anomalies

Ehler's Danlos Syndrome

Clinical:Clinically and genetically heterogeneous group of disorders that result from some defect in collagen

synthesis and structure. 10 clinical variants, most show cutis hyperelastica and hyperextendible joints.EDS Type I: +diaphragmatic hernia

EDS Type IV: +rupture of colon and large arteries (rick in type III collagen)

EDS Type VI: +corneal rupture and retinal detachment

Pathophysiology:

Type IV: mutation in type III collagen gene, proa1 (III) chains, secretion defect or structurally abnormalType VI: mutation in lysyl hydroxylase (enzyme for cross-linking collagens I and III)

Type VII: mutation in conversion of type I procollagen to collagen

Type IX: copper metabolism defect, high in cells, low in serum & ceruloplasmin; copper-dependent enzyme lysyl

oxidase essential for cross-linking collagen

Transmission:Type IV: AD

Type VI: AR

Type VII: AD (dominant negative: mutant chains interfere with the formation of normal collagen helices)

Type IX: X linked recessive

Eisenmenger's Syndrome

Clinical:reversal of congenital left to right shunt (e.g. ASD, VSD, PDA), pulmonary hypertension, RVH, cyanosis

Empty Sella Syndrome

Clinical:pituitary insufficiency, panhypopituitarism

Pathophysiology:Multiple origins: herniation of sunarachnoid into sella with compression atrophy of pituitary byCSF, Sheehan's Syndrome, infarction of adenoma followed by scarring, ablation of pituitary by radiation andscarring

Micro:Ususally some residual viable tissue remains, but mostly gliotic scar.
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Evans Syndrome

Clinical:autoimmune thrombocytopenia along with autoimmune hemolytic anemia

Fabry's Disease

AKA:angiokeratoma corporis diffusum universalis

Clinical:purple angiokeratomas on thighs, buttocks and genitalia, anhidrosis, parasthesias in lower extremities;CNS, cardiac and renal complications

Transmission:X linked Recessive; Xq21-22

Pathophysiology:No agalactosidase !

sphingolipid (ceramide trihexoside) in histiocytes and vessel walls

Diagnosis:zebra body glomerular deposits

Fanconi Anemia

Clinical:renal hypoplasia, absent or hypoplastic thumbs or radii, skin hyperpigmentation, microcephaly, risk of

AML, squamous carcinoma, hepatocellular carcinoma

Transmission:AR

Pathophysiology:Defective DNA repair mechanism

Fanconi's SyndromeMneumonic:KAT(Kidney, Aplastic anemia, Thumbs - absent)

Clinical:acute leukemia, squamous carcinomas & hepatomas, cystinosis, osteomalacia

Transmission:AR

Pathophysiology:2 to myeloma or poisoning !defective renal tubular function

Felty's Syndrome

Mneumonic:SAUL(Splenomegaly, Arthritis, Ulcers (leg), Leukopenia)

Clinical:Rheumatoid arthritis with leg ulcers, splenomegaly with leukopenia & granulocytopenia

Fetal Alcohol Syndrome

Mneumonic:GAMMAS(Growth retardation, Alcohol, Microcephaly, Maxillary hypoplasia, ASD, Short palpebralfissures)

Clinical:microcephaly, facial dysmorphology (short palpebral fissure, maxillary hypoplasia), malformations of thebrain, cardiovascular system (strial septal defect) and genitonurinary system

Pathophysiology:acetaldehyde crosses placenta

Fetal Hydantoin Syndrome

Clinical:IUGR, mental retardation, dysmorphic facies, sleft lip, cardiac abnormalities, ambiguous genitalia

Pathophysiology:

Fitz-Hugh-Curtis Syndrome

Clinical:stabbing RUQ abdominal pain

Pathophysiology:perihepatitis caused by spread of untreated gonorrheal cervicitis

Forbes-Albright Syndrome

Clinical:Pituitary chromophobe adenomas or craniopharyngeomas associated with gonadotropins causingsecondary amenorrhea with galactorrhea.


Fragile X

Clinical:Mental retardation

Transmission:X linked

Cytogenetics:Xq27.3

Freidrich's Ataxia

Clinical:gait ataxia, hand clumsiness, dysarthria, -DTR, impaired joint position and vibratory sense. +Babinski,

Transmission:AR with male preponderance

Pathophysiology:Unknown

Gross:Small spinal cord

Micro:Loss of nerve fibers and gliosis of posterior columns, distal corticospinal tract, spinocerebellar tracts andloss of dorsal root ganglion cells.

Gaisbock's Syndrome

Clinical:Stress polycythemia of unknown etiology

Gardner's SyndromeMneumonic:DO STOP (Desmoid/AD, Osteomas, Sebaceous cysts, Thyroid cancer/tooth abnormal,Osteochondromas, Polyps)

Clinical:colonic polyposis with high malignant potential, skull osteomas, soft tissue tumors: calcifying epitheliomaof Malherbe, fibromatosis/desmoid, lipomas, sebaceous cysts, fibromas, fibrosarcomas; dental abnormalities


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Transmission:AD; APC gene 5q21 variable expressivity

Gaucher Disease

Clinical:The most common lyssomal storage disorder.HSM, lymphadenopathy, bone destruction

Type I (99%) non-neuronopathic. Splenic and skeletal involvement, lymphadenopath., European Jews. Reduced but

detectible activity. Longevity mildly shortened.

Type II (


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AKA:Idiopathic pulmonary fibrosis, Usual interstitial pneumonitis (UIP)

Hand-Foot-and-Mouth Disease

Clinical:pearly grey vesicles on fingers, toes, palms, soles, buccal mucosa and tongue

Pathophysiology:CoxsackieA-16

Hand-Schller Christian Disease

AKA:Multifocal Langerhans' Cell Histiocytosis

Clinical:Triad of calvarial defects, diabetes insipidis and exopthalmos in patients with Langerhans Cell

Histiocytosis (compare to Letterer-Siwe Disease).

Histiocytic infiltrates in multiple tissues and involvement of pituitary stalk in 50% leads to diabetes insipidus.

Seborrhea-like skin eruption typically present.

EM:Rod shaped inclusions in Langerhans cells (Birbeck granules)

Prognosis:Relatively benign course. Lesions spontaneously regress in 50% and in 50% cured by chemoRx.

Hansen's Disease

AKA:Leprosy

Clinical:Tuberculoid (TT) and Lepromatous (LL) forms.TT: Macular skin lesions with prominent nerve involvement (ulnar and peroneal) leading to skin anesthesia, muscle

atrophy and eventually skin ulcers; skin contractures, paralysis, autoamputation of fingers and toes.

LL: Nodular lesions (skin, peripheral nerves, anterior eye, upper airways to larynx, testes, hands, feet) may result in

sensory imapirment and "Leonine facies."

Transmission:TT form is not contagious.

Pathophysiology:Mycobacteria leprae

Diagnosis:Acid fast obligate intracellular bacteriaFew organsims in TT; Lots in LL.

Micro:TT: Garnulomatous lesions with scant organisms

LL: Abundant histiocytes and easily identified organisms

Prognosis:LL more difficult to cure.

Hartnup's Disease

Clinical:Symptoms of pellagra

Pathophysiology:Defective tryptophan transport system leads to decreased nicotinamide

Haverhill Fever

AKA:Rat bite fever

Pathophysiology:Streptobacillus moniliformis

Heerfordt's Syndrome

Clinical:Sarcoidosis, bilateral parotid enlargement, facial nerve palsy, uveitis

HELLP

Clinical:Hemolysis, Elevated Liver function tests, Low Platelets

Pathophysiology:Caused by severe toxemia of pregnancy

Hemolytic Uremic SyndromeClinical:sudden onset hematemesis/melena after GI/flu-like prodrome; severe oliguria, hematuria,microangiopathic hemolytic anemia, neurological changes in children. Familial form - more benign course. In adults

associated with postpartum complications (retained placenta), OCPs.

Pathophysiology:infectious etiology include; Salmonella typhi,E. coli, Shigella, Clostridia

Henoch-Schonlein Purpura

Mneumonic:GAAACC(Glomerulonephritis, IgA, Arthralgias, Angiitis, Colic, C3)

Clinical:

Hereditary Angioneurotic Edema

Clinical:Episodic edema of skin, extremities, laryngeal and GI mucosa provoked by emotional stress or trauma

Transmission:AD

Pathophysiology:C1 inhibitor deficiency

Hereditary Non-Polyposis Colon Cancer Syndrome

AKA:HNPCC

Clinical:Early onset colon cancers at a young age


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Diagnosis:Microsatellite instability can be detected in 15% of sporadic (non-HNPCC) colon cancers

Treatment:Cancer screening

Hermansky-Pudlak Syndrome

Clinical:oculocutaneous albinism, increased ceroid in mononuclear phagocytic system, dense granule deficiency inplatelets

Hirschprung's Disease

Clinical:Congenital megacolon

Pathophysiology:Failure of development of Meissner's and Auerbach's plexuses.

Micro:Ganglion cells are absent at anorectal junction. Nerves hypertrophied.

Horner's Syndrome

Clinical:ptosis, miosis, anhydrosis

Pathophysiology:lesion in sympathetic chain

Horton's Disease

AKA:Temporal (giant cell) arteritis

Hunter Syndrome

AKA:Type II mucopolysaccharidosis

Clinical:Appear normal at birth but develop HSM by 6-24 months. Growth retardation, coarse facial features,skeletal deformities. Compared to Hurler no corneal clouding and milder clinical course.

Pathophysiology:Deficiency of L-iduronosulfate sulfatase leading to accumulation of heparan sulfate anddermatan sulfate.

Transmission:X-linked recessive

Hurler Syndrome

AKA:Type I mucopolysaccharidosis

Clinical:Appear normal at birth but develop HSM by 6-24 months. Growth retardation, corneal clouding, coarsefacial features, skeletal deformities. Death by 6-10 years from cardiovascular complications.

Pathophysiology:Deficiency ofa-1-iduronidase leading to accumulation of heparan sulfate and dermatan sulfate.

Transmission:AR

Ivemark's Syndrome

Clinical:splenic agenesis, cardiac malformations

Jodbasedow Disease

Clinical:excess iodine ingestion in patients with thyroid disorders causing thyroid toxicosis..

Pathophysiology:Unknown.

Juvenile Polyposis Coli

Clinical:Multiple hamartomatous polyps in stomach and colon.

Transmission:AD.

Kartagener's SyndromeMneumonic:SIBS(Situs inversus, Immotile cilia/infertile male, Bronchiectasis, Sinusitis)

Clinical:complete situs inversus, chronic sinusitis, bronchiectasis, spleen, infertility

Pathophysiology:defect in protein dynein; congenital absence of cilia

Kasabach-Marritt Syndrome

Pathophysiology:giant cavernous hemangioma leading to consumptive thrombocytopenia

Kawasaki's Disease

AKA:Mucocutaneous LN Syndrome

Clinical:conjunctivitis, pharyngitis, cervical lymphadenopathy, peri-vasculitis/vasculitis, finger and toedesquamation

Kearns-Sayre Syndrome

Mnemonic:MOHR

Clinical:Mitochondrial myopathy resulting in Opthalmoplegia, Heart block & Retinal pigmentary degeneration

Kimmelstiel-Wilson Disease

AKA:Diabetic nephropathyClinical:Diabetes mellitus, hypertension, nephrotic syndrome

Klinefelter's Syndrome

Cytogenetics:XXY


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Clinical:1/850 male live births: hypogonadism (atrophic testis, small penis), eunochoid body, lack of secondarysexual characteristics (deep voice, beard) increased risk of breast cancer.

Diagnosis:Increased FSH

Klippel-Trenaunay-Weber Syndrome

AKA:angio-osteohypertrophy

Clinical:possible increased risk of Wilms tumor

Pathophysiology:angiomatosis !underlying bone abnormal, may !localized gigantism

Koenig Syndrome

AKA:Cecal tuberculosis

Clinical:alternating constipation and diarrhea, colic, meteorism, gurgling in RLQ

Krabbe's Disease

AKA:Globoid cell leukodystrophy

Clinical:Lysosomal storage disease (sphingolipidosis). Manifests in early childhood as a symmetrical, global

disorder or myelinization which leads rapidly to death before age 2.Transmission:AR

Pathophysiology:Galactocerebrosidase b-galactosidasedeficiency leading to accumulation of galactocerebrocide

Micro:Demyelination and multinucleated histiocytic cells called globoid cells

Lambert-Eaton Syndrome

Mneumonic:MSeats lambs

Clinical:Myasthenic syndrome associated with malignancy (usually Small cell carcinoma of the lung)

Lawrence-Moon-Biedel SyndromeAKA:Lawrence-Moon Syndrome

Clinical:retinitis pigmentosa, extra digits, pelvic girdle obsesity, no genital development at puberty, mentalretardation, spastic paraperesis

Transmission:AR

Leigh's Syndrome

AKA:Subacute necrotizing encephalomyelopathy

Clinical:Bilateral, symmetrical regions of necrosis in thalamus, midbrain, pons, medulla and spinal cord resultingin ataxia, hypotonia, seizures, intellectual deterioration and death.

Transmission:AR

Lesch-Nyhan Syndrome

Clinical:hyperuricemia with uric acid stones, mental retardation, choreoarthetosis, spastic cerebral palsy, self-mutilation

Transmission:X-linked recessive

Pathophysiology:deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) of purine metabolism

Leser-Trelat Syndrome

Clinical:Multiple seborrheic keratoses and internal malignancy

Letterer-Siwe Disease

Mnemonic:Let's See HOPE(Letterer Siwe, HSM, Osteolytic bone lesions, Pumonary lesions, Enlarged LN)forthese poor kids

AKA:Acute disseminated Langerhans Cell Histiocytosis

Clinical:< 2 years old and sometimes present at birth; cutaneous lesions (diffuse maculopapular, eczematous orpurpuric) on trunk and scalp, hepatosplenomegaly, lymphadenopathy, pulmonary lesions, destructive osteolytic bone

lesions.

EM:Rod shaped inclusions in Langerhans cells (Birbeck granules)

Prognosis:poor (aggressive course), untreated disease is uniformly fatal. With chemoRx 5 year survival is 50%.

Liddle Syndrome

Clinical:Salt-sensitive hypertension

Pathophysiology:Mutation in epithelial sodium channel protein lead to increased distal tubular sodium reabsoption

Libman-Sacks Endocarditis

Clinical:Noninfective verrucous endocarditis attributable to elevated levels of circulating immune complexesoccuring in patients with SLE.

Li-Fraumeni Syndrome

Clinical:Multiple sarcomas and carcinomas (breast carcinoma, adrenal cortex), leukemia and brain tumors; 25-foldgreater chance of developing a carcinoma by age 50 than general population. Develop in young age and develop

multiple primaries.

Cytogenetics:Germ line mutations of p53 (17p13.1) - cell cycle regulator, G1 arrest of DNA damaged cells


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Leffler's Syndrome

Clinical:eosinophilic pneumonia with granulomas; usually self-limited

Lofgen's Syndrome

Clinical:fever, erythema nodosum (lower extremities), possible sarcoid

Lutembacher's SyndromeClinical:Rheumatic mitral valve stenosis and ASD leading to pulmonary HTN from increased left sided pressure.

Maffucci's Syndrome

AKA:dyschondroplasia with vascular hamartomas

Clinical:multiple cavernous hemangiomas (skin) and enchondromas

Mallory Weiss Syndrome

AKA:Mallory Weiss Tear

Clinical:Small tears in the esophagus as a result of prolonged vomiting.Gross:Linear, irregular tears at GE junction or proximal gastric mucosa.

Marek's Disease

Clinical:Herpes virus infection contracted from fowl causing neuro lymphomatosis

Marie-Strumpell Disease

AKA:Ankylosing spondylitis, Rheumatoid spondalitis

Clinical:Arthritis of sacroiliac joints and vertebral columns in young men.

Cytogenetics:Association with HLA B-27

Marfan Syndrome

Clinical:1 in 10,000-20,000; 70-85% familialarachnodactyly, dolichocephalic (long head), lax joints, bilateral ectopia lentis, aortic aneurysms/dissections/ valve

incompetence, mitral valve prolapse/regurge, spinal deformities (kyphosis, scoliosis), skeletal abnormalities (pectus

excavatum or pigeon-breast)

Transmission:AD or sporadic

Pathophysiology:Mutation in fibrillin 1(major component of extracellular matrix) leads to defect in connectivetissue integrity. In heterozygotes mutant fibrillin disrupts the assembly of normal microfibrils (dominant negative

mutation).

Diagnosis:Direct gene diagnosis is not feasible. Presymtomatic detection by RFLP analysis.

Cytogenetics:FBN1 in 15q21.1; great interfamilial variability/expressivity

Micro:Aortic cystic medial necrosis

Prognosis:Aortic rupture is the cause of death in 30-45%, other deaths from cardiac failure.

McArdle Disease

AKA:Type V glycogenosis

Clinical:Congenital myopathy with onset in adulthood (>20 yo) presents with muscle cramps after exercise andfailure of exercise-induced rise in blood lactate due to block in glycolysis. 50% myoglobinuria.

Pathophysiology:Myophosphorylase deficiency

Micro:Glycogen accumulations in skeletal muscle only in subsarcolemmal location

McCune-Albright Syndrome

AKA:Albright Syndrome

Mneumonic:CAFE

Clinical:Cafe-au-lait spots with irregular serpiginous borders on neck, chest, back, shouder and pelvis, polyostoticFibrous dysplasia (femur>skull>tibia>jaw>humerus), Endocrine -- precocious puberty (females), endocrinedysfunction (hyperthyroidism, primary adrenal hyperplasia, GH secreting pituitary adenoma)

Pathophysiology:Somatic (not hereditary mutation) involving a guanine nucleotide binding protein leading to

excess cAMP

Meig's Syndrome

Clinical:ovarian fibroma with ipsilateral hydrothorax or ascites

Menetrier's Disease

Clinical:4th-6th decades. Hypertrophic gastropathy; protein-losing enteropathy; ZES

Pathophysiology:Idiopathic

Gross:Giant cerebriform enlargement of the rugal folds of the gastric mucosa

Micro:Hyperplasia of surface mucus cells; gastric secretions have excessive mucus and little or no HCl

Meniere's Disease

Clinical:inner ear abnormalities, tinnitus, hearing loss, vertigo, N/V, nystagmus


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Menkes' Syndrome

Clinical:short, sparse, kinky, hypopigmented hair; Mental retardation with CNS deterioration

Transmission:X linked Recessive

Pathophysiology:disorder of intestinal copper absorption, needed by lysyl-oxidase, resulting in changes in aorticcollagen and elastin

Metachromatic Leukodystrophy

Clinical:Presents in late infancy with progressive motor impairment with mental deterioration. Congenital, juvenileand adulr presentations occur.

Transmission:AR

Pathophysiology:Deficiency in arylsulfatase A (cerebroside sulfatase)

Diagnosis:Decreased urinary arylsulfatase A.

Mikulicz's Disease

AKA:Used to refer to Sjgren's Syndrome; now refers to any swelling of lacrimal and salivary gland.

Pathophysiology:Lacrimal and salivary gland swelling secondary to lymphoid infiltrate, sarcoidosis, leukemia,

lymphoma or tumors

Milroy's Disease

AKA:heredofamilial congenital lymphedema

Milwaukee Shoulder Syndrome

Clinical:Hydroxyapetite arthropathy affecting knees and shoulders

Mitsuda Reaction

Clinical:Skin reaction to lepromin occuring 3-4 weeks after injection

Morquio's Syndrome

AKA:type IV mucopolysaccharidosis

Muir-Torre Syndrome

Clinical:multiple sebaceous gland tumors; visceral malignancy

Multiple Endocrine Neoplasia I (MEN I)

AKA:Wermer's Syndrome

Clinical:pituitary adenoma

parathyroid adenoma > hyperplasia

pancreatic islet cell adenoma

also: thyroid and adrenal cortical neoplasms, gastric hypersecretions and peptic ulcerations

Transmission:

Pathophysiology:

Cytogenetics:11q11-13

Multiple Endocrine Neoplasia IIa (MEN IIa)

AKA:Sipple's Syndrome

Clinical:parathyroid C cell hyperplasia or adenoma

medullary carcinoma, thyroid

pheochromocytoma (bilateral 70%)

Transmission:

Pathophysiology:Germ line mutation of RET proto-oncogene on chromosome 10

Cytogenetics:10q11.2

Multiple Endocrine Neoplasia IIb (MEN IIb)

AKA:Mucosal Neuroma Syndrome

Clinical:medullary carcinoma, thyroid

pheochromocytoma (often bilateral)

mucosal neuromas

Marfanoid habitus

Transmission:

Pathophysiology:

Cytogenetics:11q11-13

Nelson's SyndromeClinical:hyperpigmentation, Cranial nerve III damage (opthalmoplegia), skin pigmentation

Pathophysiology:post-adrenalectomy hyperplasia of the pituitary gland (corticotroph cells)

Diagnosis: ACTH


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Micro:adenomatous enlargement of the pituitary with a carcinomatous histologic picture

Neurofibromatosis I (NF I)

AKA:"Peripheral" NF, Von Recklinghausen's Disease

Clinical:1 in 3000. Multiple neurofibromas, plexiform neurofibromas, caf au lait spots (90%: 6 or more spots >1.5cm in diameter), Lisch nodules (pigmented iris hamartomas: 94% over age 6, usu asymtomatic), meningiomas, optic

gliomas, 50% skel abnl (erosive defects, scoliosis & bone cysts, tibial pseudoarthrosis)..

Plexiform NF become maligfnant in 5%.

risk (2-4x) of pheochromocytomas, Wilms tumor, AML, rhabdomyosarcoma, optic gliomas, meningiomas. Children

at risk of CML

Transmission:50% AD, remainder new mutations.

Cytogenetics:17q11.2 (neurofibromin gene) - tumor suppressor gene, downregulates p21 ras. Penetrance 100% butexpressivity variable.

Micro:Neurofibromas are loose proliferation of neurites, Schwann cells and fibroblasts in a myxoid stroma.

Neurofibromatosis II (NF II)

AKA:"central" NF, acoustic NF

Clinical:1 in 40,000-50,000. Bilateral acoustic schwannomas, caf au lait spots, (NO Lisch nodules), meningiomas,cerebellar astrocytomas, ependymomas of spinal cord, schwannosis (benign nodular ingrowth of Schwann cells into

spinal cord), meningioangiomatosis, glial hamartomas.Transmission:AD

Cytogenetics:del 22q12. Tumor suppressor gene, product called merlin similar to cytoskeletal proteins.

Nezelof's Syndrome

Clinical:absent thymus and cell mediated immunity (like DiGeorge

) but with normal parathyroids

Diagnosis:IgG is normal or increased but there is a selective deficiency of isotypes

Niemann-Pick Disease

Clinical:Clinically, biochemically and genetically heterogeneous. risk in Ashkenazi Jewish community.Type A is severe infantile form (no sphingomyelinase) with severe neurologic impairment and death within first 3

years of life

Type B: hepatosplenomegaly, lymphadenopathy, marrow disease, late or no CNS involvement; survive into

adulthood.

Transmission:AR

Pathophysiology:Lysosomal strorage disease (no sphingomyelinase leading to sphingomyelin accumulation)

Diagnosis:Liver or bone marrow biopsy assays for sphingomyelinase activity.

Gross:Massive splenomegaly; neuronal involvement is diffuse.

Micro:Lipid-laden phagocytic foam cells in spleen, liver, lymph nodes, bone marrow, tonsils, GI tract, lungs.

Stains:Vacuoles stain for fat with Sudan Black and Oil red O.

EM:Lysosomes contain membranous cytoplasmic bodies resenbling concentric lamellated myelin figures, orparallel palisaded lamella called Zebra bodies

Noonan's Syndrome

AKA:Male Turner's Syndrome, Ullrich-Turner's Syndrome

Clinical:Phenotype of Turner's Syndrome(webbed neck, ptosis, hypogonadism, congenital heart disease and shortstature) without gonadal dysgenesis.

Ochronosis

AKA:AlkaptonuriaClinical:Blue-black pigmentation in ears, nose and cheeks. Pigment in articular cartilages of the joints. Cartilagebrittle and fibrillated, especially in vertebral column, knees, shoulders and hips, leading to a degenerative

arthropathy.

Transmission:AR

Pathophysiology:Lack of homogentisic oxidase: defect in metabolism of phenylalanine-tyrosine with buildup ofhomogentisic acid. Homogentisic acid binds to collagen in connective tissue, tndons and cartilage.

Cytogenetics:3q21

Diagnosis:Urine turns black due to oxidation

Oculoglandular SyndromeAKA:Parinaud's Syndrome

Ollier's Disease

Clinical:Non-hereditary. Multiple unilateral enchondromas; often associated with ovarian sex cord-stromal tumors

Osler-Weber-Rendu

AKA:Hereditary hemorrhagic telangiectasia

Clinical:Telangiectasias of face and oral mucosa, respiratory, GI, urinary tracts, CNS, liver, and spleen

Transmission:ADPathophysiology:mutations in two TGF-b binding proteins, including the endothelial protein endoglinarterial blood is shunted into postcapillary venules

Pancoast Syndrome
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Clinical:pain in pinky (ulnar nerve distribution), miosis, ptosis, anhidrosis,

Pathophysiology:upper lobe mass impinges on sympathetic chain or brachial plexus

Parinaud's Syndrome

AKA:Oculoglandular syndrome

Clinical:swelling of the eye, jaw and high cervical lymph nodes caused by cat-scratch disease

Pathophysiology:Bartonella henselae

Paroxysmal Nocturnal Hemoglobinuria

AKA:PNH

Clinical:Recurrent bouts of intravascular hemolysis leading to complement-mediated lysis of RBC, leading to achronic hemolytic anemia

Pathophysiology:Cells lack ability to express phosphatidylinositol-linked membrane proteins, including DAF(decay accelerating factor, a complement regulator)

Patau Syndrome

AKA:Trisomy 13

Patterson-Kelly Syndrome

AKA:Plummer-Vinson Syndrome

Clinical:atrophic glossitis, microcytic hypochromic anemia (Fe deficiency), esophageal webs with dysphagia

Peutz-Jegher's Syndrome

Clinical:melanin spots on lips, buccal mucosa, genitalia and palmar surface of hands; multiple jejunalhamartomatous polyps with low malignant potential; risk SCTAT, adenoma malignum, mucinous ovarian tumors,

large cell calcifying Sertoli cell tumor

Transmission:AD

Peyronie's Disease

AKA:Penile fibromatosis

Pick's Disease

AKA:Frontotemporal dementia

Clinical:Cerebral dementia

Gross:"Walnut brain"

Pickwickian SyndromeAKA:Obesity hypoventilation syndrome

Clinical:Hypersomnolence leading to apnea, polycythemia and right sided heart failure.

Plummer-Vinson Syndrome

AKA:Paterson-Kelly Syndrome

Clinical:atrophic glossitis, microcytic hypochromic anemia, esophageal webs with dysphagia

POEMS

Clinical:Polyneuropathy, Organomegaly, Endocrinopathy, M-protein spike, Skin changes

Pompe Disease

AKA:Glycogenosis Type II

Clinical:Cardiomegaly prominent; deposition in all organs with mild hepatomegaly, muscle hypotonia andcardioresperatory failure in 2 years. Milder adult form with only skeletal muscle chronic myopathy.

Pathophysiology:Lysosomal storage disease: deficiency of a-1-4-glucosidase(acid maltase) resulting inaccumulation of glycogen in lysosomes

Micro:glycogen accumulations lead to ballooning of lysosomes in hepatocytes: lacy cytoplasmic pattern. Glycogenmembrane-bound and sarcolemmal in heart & skel muscle.

Porphyria Cutanea Tarda

Clinical:vesicles on the back of the hand; association with ETOH, DM

Transmission:AD

Diagnosis:urine turns orange/red under wood's light

Pott's Disease

AKA:Tuberculous spondylitis, Vertebral tuberculosis

Prader-Willi Syndrome

Clinical:mental retardation, short stature, hypotonia, obesity, small hands and feet, hypogonadism

Cytogenetics:Paternal imprinting of chromosome 15; del(15)(q11q13)

Mnemonic: father Willi is fat while mom's a happy Angel (maternal imprinting of chr 15 causes Angelman's


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Syndrome)

Ramsay-Hunt Syndrome

Clinical:Facial paralysis

Pathophysiology:VZV infection of geniculate nucleus

Raynaud's Disease

Clinical:Raynaud's phenomenon occuring in the absence of an anatomic lesion in the vessel walls

Raynaud's Phenomenon

Clinical:pain and pallor/cyanosis of distal extremities in response to cold

Pathophysiology:vasoconstriction

Refsum's Disease

Clinical:Hypertrophic neuropathy associated with increased levels of phytanic acid

Reiter's SyndromeClinical:Triad of conjunctivitis, non-gonococcal urethritis, arthritis

Cytogenetics:Associated with HLA B-27

Reye's Syndrome

Clinical:history of aspirin ingestion in children for a viral URI; presents with encephalopathy and liver failure.

Micro:Liver shows microvesicular fatty change without coagulative necrosis or inflammation; brain shows globaledema and ischemic changes but no inflammation.

EM:mitochondrial swelling, irregularity and loss of cristae

Riedel's Disease

AKA:Riedel's Thyroiditis

Clinical:Inflammatory fibrosing process of the neck that happens to involve the thyroid.

Pathophysiology:Probably autoimmune,llight chains > k, increased IgA plasma cells

Micro:Keloid-like fibrosis with associated lymphs and plasma cells.

Riley Day Syndrome

AKA:familial dysautonomia

Rotor Syndrome

Clinical:Asymptomatic conjugated hyperbilirubinemia but the liver is not pigmented (in contrast to Dubin JohnsonSyndrome

)

Pathophysiology:Secretion of bile into bile canaliculus is impaired.

Sandhoff Disease

Pathophysiology:Lysosomal storage disease, sphingolipidosis; deficiency of hexosaminadase A & B resulting inaccumulation of GM2 ganglioside and globoside

Sanfilippo's SyndromeAKA:type III mucopolysaccharidosis

Clinical:Types A, B, C, D

Pathophysiology:Deficiency of heparin N-sulfatase leading to accumulation of heparan sulfate.

Transmission:AR

Scalded Skin Syndrome

AKA:Toxic Epidermal Necrolysis (TEN)

Clinical:Rapid subepidermal blebbing and sloughing of skin with scant inflammatory changes occuring in childrenand occasionally adults

Pathophysiology:Staphylococcus

Schmidt's Syndrome

AKA:type II autoimmune Addison's disease

Clinical:Addison's disease, autoimmune thyroid disease and/or IDDM (without hypoparathyroidism or candidiasis)

Sezary Syndrome

AKA:T cell lymphoma/Mycosis fungoides

Clinical:Generalized exfoliative erythroderma but rarely proceeds to tumefacation.

Micro:Leukemia with Sezary (cerebriform T) cellsStains:CD4+, CD2+, CD7-

Sheehan's Syndrome

Clinical:post-partum pituitary necrosis and infarction; may also occur ouside the setting of pregnancy or in males.
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Clinically presents with gonadal deficiency, hypothyroidism or adrenocortical insufficiency.

Pathophysiology:Due to shock but may be secondary to DIC, sickle cell anemia, cavernous sinus thrombosis,temporal arteritis or trauma

Shy-Drager's Syndrome

Clinical:progressive encephalo-myelopathy, autonomic dysfunction, low BP, impotence, incontinence, anhidrosis,

external opthalmoparesis, muscle tremor and wasting (Parkinsonian)

Pathophysiology:Idiopathic

Sicca Syndrome

Clinical:Sjgren's syndrome occuring without another autoimmune disorder (like rheumatoid arthritis)

Sipple's Syndrome

AKA:MEN IIa

Sjgren's Syndrome

Clinical:dry eyes (keratoconjunctivitis sicca), dry mouth (xerostomia) !caries, bilateral lacrimal and parotid

enlargement, rheumatoid arthritis, Raynaud'sphenomena, facial telangectasias, increased risk of lymphoid

malignancy (40 x)

Pathophysiology:autoimmune destruction of lacrimal and salivary glandsPrimary Sjgren's associated with HLA-DR3 and has organ involvement:

e.g. lung - recurrent infections, interstitial fibrosis, GI - angular cheilitis, beefy red tongue, hepatomegaly and PBC;

kidney - RTA, interstitial nephritis;

Secondary Sjgren's associated with HLA-DR4 and is limited to lacrimal/salivary glands

Diagnosis:Antibodies to SS-A (Ro) and SS-B (La); Schirmer's test - absorptive paper to eyes

Micro:Renal involvement is tubulointerstitial nephritis (not glomerular as in SLE or Scleroderma)

Stein-Leventhal Syndrome

AKA:Polycystic ovaries

Clinical:hirsutism, obesity, amenorrhea, infertility, risk for endometrial carcinoma

Diagnosis:excess LHRH !LH! estrogens, androgens

Gross:large ovaries with thickened tunica albuginea and evenly distributed cysts

Micro:Vaginal smears show intermediate to superficial cell maturation.

Stevens-Johnson Syndrome

Clinical:severe form of erythema multiformemore common in children with mucosal involvement (hemorrhagiccrusts involving lips and mucosa, conjunctiva, urethra, genital or perianal areas), high fever

Stewart-Treves Syndrome

Clinical:post-mastectomy lymphedema of the arm !angiosarcoma

Still's Disease

AKA:Juvenile rheumatoid arthritis

Sturge-Weber Syndrome

AKA:Encephalotrigeminal angiomatosis

Clinical:Port wine stain (nevus flamus) in the area of the trigeminal nerve, venous angiomas of leptomeninges,retina and cortex, associated mental retardation, seizures, hemiplegia and radiopacities of the skull (intracranial

calcifications); choroid angioma glaucoma (any 2 fulfill criteria), pheochromocytomas

Pathophysiology:faulty development of mesodermal and ectodermal elements

Syndromic Large Cell Calcifying Sertoli Cell Tumor

Clinical:< 20 years old, LCCSCT, frequently bilateral; pituitary tumor; pigmented nodular adrenal hyperplasia,cardiac myxomas, Peutz Jegher's polyps

Systemic Lupus Erythematosus

Mnemonic:SOAPBRAIN M.D.(see Clinical)AKA:SLE

Clinical:15-50/100,000 8xF>M, 3x Black females>white females; 50% concordance in identical twins

6% associated with complement C2 deficiency

Serositis: pleuritis/pericarditisOral ulcersArthritis/synovitis (usually peripheral polyarthritis)PhotosensitivityBlood Dyscrasias: hemolytic anemia, leukopenia, lymphopenia, thrombocytopeniaRenal: proteinuria, casts, hematuria, azotemiaANA+

Immune abnormalities: LE cells, anti-dsDNA, anti-Smith, VDRL/RPR+, decreased C3Neurological Disease: seizures, psychosis in the absence of drugs or known metabolic derangementsMalar rashDiscoid rashWith pregnancy there is an increased incidence of pre-eclampsia, uterine infection, SAb, prematurity, IUGR,

congenital heart bloack and endomyocardial fibrosis. There is also exacerbation of disease with decreased renal
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function, anemia, leukopenia, thrombocytopenia. Avoid oral BCP because they worsen SLE symptoms. IUDs are

associated with recurrent pelvic infections.

Pathophysiology:Drug-induced (anti-histone Ab positive): hydralazine, procainamide, penicillamine, INH,phenytoin

Diagnosis:ANA, anti-ds DNA, anti-histone, anti-Sm, SS-A (Ro)

Micro:Hematoxylin bodies - LE cell; fibrinoid necrosis, onionskin lesions

IF:Skin: immunoglobin deposition in dermo-epidermal junction of normal-appearing as well as clinically involvedskin

Cytogenetics:Associations with HLA-DR2 and HLA-DR3 (deletion of C4a gene)

Tangier Disease

Clinical:large orange tonsils, hypolipedemia, corneal opacities, neuropathy, splenomegaly

Pathophysiology:HLA deficiency

Transmission:AR

TaR Syndrome

Clinical:thrombocytopenia, absent radius, congenital heart or renal abnormalities

Transmission:AR

Tay-Sachs Disease

AKA:GM2Gangliosidosis, Hemoaminidase a-Subunit Deficiency

Clinical:Easter European (Ashkenazi) Jews. Carrier rate 1 in 30. Present at age 6 months: motor incoordination,mental obtundation leading to muscular flaccidity, blindness and dementia. Death by age 2-3 years.

Transmission:AR

Pathophysiology:Deficiency of hexoaminidase A causes inability to catabolize GM2Gangliosides

Diagnosis:Retina cherry-red spot.

Micro:Neurins in CNS and autonomic nervous system.

Stains:Oil red O, Sudan Black positive.

EM:Cytoplasmic inclusions: whorled configurations within lysosomes (onio-skin)

Cytogenetics:Chromosome 15, mutations in asubunit locus

Torre's Syndrome

Clinical:multiple sebaceous neoplasms and internal malignancy

Toxic Shock Syndrome

Clinical:Volume-resistant shock, diffuse macular rash, conjunctivitis, sore throat, GI upset.

Pathophysiology:Staphylococcus infection (via tampons or wounds)

Trousseau's Syndrome

Clinical:migratory thrombophlebitis seen in patients with a malignancy (pancreatic carcinoma)

Tuberous Sclerosis

Mneumonic:THAT'S TS(Tubers, Hamartomas, Angiomyolipomas/Angiofibromas/Adenoma Sebaceum, reTinaltumors, Shagreen skin, hearTrhabdomyoma, Subungal/Seizures)

AKA:Bourneville's Disease

Clinical:cortical hamartomas/tubers (mental retardation, seizures, epilepsy), cutaneous hamartomas(angiofibromas, sebaceous adenomas), retinal phakomas (fibromas), shagreen skin, ash-leaf hypopigmented

macules, subungal hamartomas, visceral/pancreatic cysts, renal angiomyolipomas (80%; multiple or bilateral),

rhabdomyoma of the heart, increased risk of retinal glial hamartomas and gemistocytic astrocytomas

Transmission:AD with variable expression

Turcot's Syndrome

Clinical:colon adenomatous polyps with high malignant potential & brain tumors (medulloblastoma and fibrillaryastrocytoma)

Transmission:AR

Turner Syndrome

Clinical:shield chest, webbed neck, short stature, cystic hygroma, valgus deformity of elbows, low hair line,pigmented nevi, risk of atypical polypoid adenomyoma of uterus, aortic coarctation

Cytogenetics:XO, due to nondisjunction of X chromosome, occasionally mosaic

Gross:Ovarian agenesis

Micro:no follicles in ovary (menopause before menarche). Atrophic vaginal smear with maturation index 100/0/0

Usher's Syndrome

Clinical:congenital nerve deafness, retinitis pigmentosa

Vagabond's Disease

AKA:Infection with body louse


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Vanishing bile duct syndrome

Micro:irreversible loss of of bile ducts in >50% of portal tracts following liver transplantation

von Gierke Disease

AKA:Type I glycogenosis

Clinical:Hepatomegaly, renomegaly, hypoglycemia (convulsions), hyperlipidemia, hyperuricemia, gout, skinxanthomas, platelet dysfunction, hepatic adeomas

Pathophysiology:Deficiency of glucose-6-phosphatase

Prognosis:With treatment most survve and develop late complications (hepatic adenomas)

von Hippel-Lindau

Clinical:hemangioblastomasof the cerbellum, retina or brainstem, hemangiomas and cysts of the pancreas, liver,kidneys, epididymis and increased risk of renal cell carcinoma (60%), pheochromocytomas and testicular

cystadenomas/carcinomas

Transmission:AD, gene on 3p25-26 encodes pVHL a tumor suppressor gene

Pathophysiology:pVHL protein inhibits the elongation step of RNA synthesis by interacting with elongin B andelongin C

Diagnosis:Polycythemia associated with the hemangioblastoma in 10% of cases (EPO production by tumor)

Treatment:nephrectomy for RCC, laser therapy for retinal hemangioblastomas

Von Recklinghausen's Disease

AKA:Neurofibromatosis I

Waardenburg Syndrome

Clinical:white forelock, lacrimal punctae, width of root of nose, synophrus (eyebrows grow together), cochlear

deafness,

Transmission:AD: PAX 3

WAGR Syndrome

Clinical:Wilms' tumor, Aniridia, Genital anomalies, mental Retardation35% chance of developing Wilms' tumor (see alsoDenys-Drash SyndromeandBeckwith-WiedemannSyndromefor

other Wilms' tumor associated syndromes)

Transmission:AD, gene WT-1 on 11p13

Pathophysiology:nonsense or frameshift mutation

Waterhouse-Friderichsen's Syndrome

Clinical:Acute adrenocortical insufficiency from sudden hemorrhagic destruction of the adrenals, usually

secondary to meningococcemiaPrognosis:vasomotor collapse and shock !death.

Weber-Christian Disease

AKA:Relapsing febrile nodular (lobular) panniculitis

Clinical:Nonvasculitic panniculitis with crops of erythematous plaques or nodules on lower extremities of kids andadults.

Weil's Disease

Clinical:Severe leptospirosis with jaundice, bleeding and renal failure

Werdnig-Hoffman Disease

AKA:Infantile progressive spinal muscular atrophy

Clinical:congenital hypotonia ("floppy infant"). Death from respiratory failure or aspiration

Transmission:AR

Micro:absence/loss of lower motor neurons from anterior horns of spinal cord and neurogenic muscular atrophy

Wermer Syndrome

AKA:MEN I

Werner's Syndrome

Clinical:Rare disease characterized by premature aging, risk of sarcoma

Pathophysiology:Defective DNA helicase (involved in DNA replication & repair)

Wernicke-Korsakoff Syndrome

AKA:Wernicke's encephalopathy and Korsakoff's psychosis

Clinical:

Transmission:

Pathophysiology:Thiamine (vitamin B12) deficiency

Diagnosis:

Gross:Hemorrhagic lesions in mammillary bodies

Micro:
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Whipple's Disease

Clinical:A systemic disease affecting white males in 30's-40's (M:F is 10:1) involving small intestine, skin, CNS,joints, heart, blood vessels, kidney, lungs, serosal memebranes, lymph nodes, spleen and liver. Presents with

malabsorption, diarrhea and polyarterthritis, obscure CNS complaints, lymphadenopathy and hyperpigmentation of

the skin.

Pathophysiology:Tropheryma whippelii, gram-positive actinomycete

Micro:Small intestinal mucosa laden with distended macrophages in the lamina propria. Villi expansion, mucosaledema, enlarged mesenteric lymph nodes. Bacilli-laden macrophages can also be found in synovium, brain, heart

valves, etc. but other inflammation is essentially absent.

Stains:Macrophages are PAS positive

EM:Rod-shaped bacilli

Treatment:Antibiotic therapy

Williams Syndrome

Clinical:Idiopathic hypercalcemia of infancy leading to metastatic calcifications

Pathophysiology:Abnormal sensitivity to vitamin D

Wilson's DiseaseAKA:Hepatolenticular degeneration

Clinical:Presentation in childhood, rarely before age 6 with acute or chronic liver disease, neuropsychiatric sx(behavioral changes, psychosis, Parkinson-like). Kayser-Fleisher rings (green-brown deposits in Descemet

membrane between limbus and cornea). Copper deposition occurs in liver, brain, cornea, kidneys, bones, joints and

parathyroids

Transmission:AR

Pathophysiology:Accumulation of toxic levels of copper due to defect in ATP7B gene on chromosome 13,encoding a transmembrane copper-transporting ATPase. Majority of patients are compound heterozygotes.

Diagnosis:Decreased serum ceruloplasmin, increased hepatic copper (>250 ug/gm dry weight) and urinary copperexcretion.

Micro:Liver can show fatty change, acute or chronic hepatitis leading to cirrhosis; rare massive liver necrosis.Brainhas toxic injury to basal ganglia and putamen with atrophy and cavitation.

Stains:Rhodamine or orecin stain copper (can't be seen on H&E).

Treatment:D-penicillamine chelation therapy

Wiskott-Aldrich Syndrome

AKA:Immunodeficiency with thrombocytopenia and eczema

Clinical:Thrombocytopenia, eczema, recurrent infections; risk of non-Hodgkin's lymphomas

Transmission:X linked recessive

Diagnosis: IgM, Nomal IgG, IgA and IgE; Maps to Xp11.23

Gross: Thymus is morphologically normal

Micro: Depletion of T lymphocytes in the peripheral blood and paracortical lymph nodes

Wolman's Disease

Pathophysiology:Deficiency of acid lipase (lysosomal storage disease) resulting in accumulation of cholesterolesters and triglycerides

Woolsorter's Disease

Clinical:Anthrax in which a diffuse pneumonia occurs which is characterized by extensive serofibrinous exudationthat may produce total lobar consolidation with paucity of pmns, hemorrhagic necrosis of alveolar septa, and

overwhelming abundance of gram-positive bacteria within the exudate.

Pathophysiology:Bacillus anthracis

Xeroderma Pigmentosum

Clinical:extreme photosensitivity, 2000-fold increased risk of skin cancer in sun-exposed skin, neurologicabnormalities

Transmission:AR

Pathophysiology:inability to repair UV induced DNA damage

Zellweger's Syndrome

AKA:cerebro-hepato-renal syndrome

Clinical:hypotonia, incomplete myelinization, craniofacial malformations, hepatomegaly with cirrhosis, glomerularcysts

Transmission:AR?

Zieve's Syndrome

Clinical:alcoholic fatty liver, hypercholesterolemia, hypertriglyceridemia with hemolysis, upper abdominal painand fever.

Micro:stomatocytosis on peripheral smear

Zollinger Ellison Syndrome

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Eponymous Clinical Syndromes

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