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MORNING REPORTCarrie JohnsonSeptember 30th, 2013
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HPI
In continuity clinic
12 month Well Child Check, new patient to the practice
Mom has concerns about previous diagnoses of low
tone and developmental delay First noted concerns at age 2-3 months when he was not
holding his head up as well as cousins of the same age
Has been enrolled in Early Intervention since 6 months
old Receives PT/OT every other week
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Birth History
Uncomplicated pregnancy, reported normal intrauterine
fetal activity
Term vaginal delivery, forceps-assisted
8 pounds 5 ounces Providers mentioned moderate low tone at birth but no
resuscitation efforts necessary
Routine Well Baby Nursery Care, discharged with Mom
Breastfed with a good latch
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Developmental History
Persistent Moderate low tone noted at all subsequent
Well Child Checks.
2 months: Social Smile, makes eye contact, tracking
appropriately, breastfeeding with a good suck. Struggles
with head control
4 months: Persistent impaired head control, minimally
raises head when placed prone. Does not place weight on
legs. No laughing, minimal cooing. Does not grasp
objects.
6 months: Does not sit unsupported, no tripod-ing, no
rolling. No grasping of objects still.
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Developmental History
10 Months: discontinued breastfeeding. Trouble taking abottle. Takes formula from Sippy cup with valve removed.Started purees, takes without coughing and gagging,pushes food out of mouth mostly.
11 months: Rolling, able to sit unsupported. Raises head90 when prone, does not push up with arms.
12 months: No pulling to stand, does not consistently bearweight. Raking grasp, no pincer. No self feeding. Nobabbling/consonants, just guttural noises. Does make eyecontact. Sucks on pacifier. Now grasps objects, notransfer between hands, does not bring to mouth.
No loss of skills previously required. Making progress,especially since early intervention.
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Growth History
Weight percentile has decreased with time, previously 50th
percentile, more recently at 4th percentile
Height consistently between 25-50th percentile.
OFC stable at 30th
percentile.
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PMH
Noisy breather, evaluated by ENT. Laryngoscopy without
any anatomical abnormalities.
Saw Ophthalmology at 6 months. Normal optic nerve, no
abnormalities.
No concern for seizures
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Medications: None
Allergies: NKDA Immunization: received up to 6 month vaccinations, then
held out of mothers concern for delay.
Family History: Two maternal male cousins with Autism
Spectrum Disorder (finished HS, live with parents, work ingrocery store). Triplet siblings, born at 28 weeks, Doing
well. No chronic conditions, genetic syndromes, seizures,
development delay, or learning disabilities
Social: Lives with Mom, Dad, triplet siblings. No daycare.
ROS: sensitive to textures, lights, noises.
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Physical Exam
Wt 8.76 kg (4%) Height 75.5 cm (32%) OFC 46 cm (30%)
T 35.8, HR 144, RR 40
Gen: Well developed but small for age. Smiling,
interactive, fussy when laid supine or when pacifier taken HEENT: NCAT, Mild hypertelorism, intermittent left
esotropia, almond shaped eyes, broad nasal root,
tenting of the mouth, protruding tongue when pacifier
removed. Normally positioned ears.
Neck: No LAD, full ROM
Resp: CTAB, intermittent inspiratory stridor
CV: Moderate Pectus Excavatum, RRR, no murmur
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Physical Exam cont.
Abd: distended but soft. No HSM. Mild reducible
umbilical hernia
Extrem: Long fingers and toes, stacking of 2nd, 4th
toes over 3rd toe bilaterally. No distinct Ulnar bulge,
long slender fingers and toes. No abnormal palmar
creasing.
GU: Small penis and scrotum. Testes palpable
bilaterally
Back: No dimples or hair tufts
Skin: Fair skin, caf-au-lait spot on right leg
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Neuro Exam
No distinct language or consonant sounds
RR bilaterally, Fixates but does not consistently track.No ptosis, nystagmus. Intermittent left esotropia.Symmetric facial movements. Palate elevates, tongue
protrudes, no fasciculations Diffuse hypotonia with mild slip through on vertical
suspension, mild head lag. Normal strength and bulk forlevel of tone. No abnormal movements at rest. Brieflysits, briefly bears weight, will left head when prone,
not chest.
DTRs 1+ UE, 2+ LE, symmetric.. No clonus
Does not reach for objects, briefly grasps objectplaced in hand
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12 month old, former term infant with longstanding diffuse
hypotonia, motor development delay, dysmorphic facial
features, and congenital anomalies.
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Labs
CK
Muscle inflammation, damage (ex: Muscular Dystrophy)
Acylcarnitine
Disorders of fatty acid oxidation (ex: medium-chain acyl CoA
dehydrogenase deficiency) and organic acid metabolism (ex:
Propinionic Acidemia, Glutaric Acidemia)
Plasma Amino Acids, Urine organic acids
Looking for defects in Protein Metabolism (ex: PKU, Maple Syrup
Urine Disease, Homocystinuria) Lactic Acid
Defects in carbohydrate metabolism
All Within Normal Limits
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Imaging
MRI Brain without Contrast
Midline anatomy and myelination normal
Delayed myelination throughout internal capsule,
supratentorial myelination more typical for 6-8months of age
Axial Imaging shows mild trigonocephaly reflecting
early metopic suture closure
Normal Spectroscopy
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Final Diagnosis
Yet to be determined
Considerations include
Prader-Willi
Parents holding off on genetictesting, Methylation studies
until meeting with Genetics
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Infantile Hypotonia vs. Weakness
Hypotonia is reduced resistance to passive range of
motion in joints; weakness is reduction in the maximum
power that can be generated.
Hypotonia is an impairment of the ability to sustain
postural control and movement against gravity...exhibit
poor control of movement, delayed motor skills, and
hypotonic motor movement patterns.
Weak infants always have hypotonia, but hypotonia may
exist without weakness
The Floppy Infant Evaluation of Hypotonia. Pediatrics in Review Vol.30 No. 9 September 1, 2009. pp. e66e76
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Prader Willi Syndrome
Multi Systemic Disorder
Caused by the loss of expression of the paternally
inherited genes from chromosome 15q11-q13.
can be caused by a de novo deletion, maternal uniparental disomy
where both copies are inherited from the mother, or an imprinting
mutation wherein gene expression is inhibited.
Clinical diagnosis confirmed by methylation test.
Prevalence of about 1 in 12,000 births
Prader-Willi Syndrome: Consensus
Diagnostic Criteria. Pediatrics Vol. 91 No. 2
February 1, 1993. pp. 398 -402
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Diagnostic CriteriaMAJOR MINOR
- Neonatal hypotonia with poor
suck, feeding problems, FTT in
infancy;
- Onset of rapid weight gainbetween 12 months and 6 which
causes obesity;
- hyperphagia and foraging for
food (onset ~2-4 years old)
- hypogonadism
- characteristic facial features
(dolichocephaly, almond-shaped
eyes, down-turned mouth)
- developmental delay with
mental retardation
- Decreased fetal movement or
infantile lethargy
- Sleep apnea
- Short stature- Hypopigmentation
- Small hands or feet
- Characteristic behavior
problems (temper tantrums,
obsessive-compulsive
behaviors, opposition, rigidity)
- Skin picking
- Esotropia and myopia
- Thick viscous saliva
- Speech articulation defects.
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Our Patient
Infant meets 5 of the major criteria for PWS
Infantile hypotonia or poor suck
Feeding problems
Dysmorphic facial features
Hypogonadism
Developmental delay
Minor criteria
Small hands and feet Pale skin
?Sleep apnea
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Treatment
Multidisciplinary team Genetics
endocrinology
nutrition
primary care physician Psychiatry/Behavioral Health
Approach
Stringent dietary restrictions (often involves lockingkitchen cabinets and refrigerators).
Encouragement of healthy food choices
Exercise
A normal life span may be achieved if obesity and itsrelated complications are avoided.
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Growth Hormone
Some benefit for improved height velocity, decreased fat
mass, improved body composition, improved behavior
and appetite control
Must be used in conjunction with diet, exercise
*Case reports of fatalities related to sleep apnea and
sudden death.
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Pearls
May present with central adrenal insufficiency (inadequate cortisolproduction during times of stress)
High pain tolerance or lack of typical pain signals is common, maymask the presence of infection or injury.
increased risk of respiratory problems. Hypotonia, weak chest
muscles, and sleep apnea are potential complicating factors Water intoxication has occurred in relation to use of certain
medications with antidiuretic effects and from excess fluid intakealone
Vomiting rarely occurs in individuals with PWS (important to
consider if possible ingestion of uncooked, spoiled, or otherwiseunhealthful food) may be sign of serious illness
increased risk of complications from anesthesia
Unusual reactions to standard dosages of medications caution in giving medications that may cause sedation: prolonged and
exaggerated responses have been reported Medicalhomeportal.org
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Learning Points
Recognize clinical features of PWS
Younger: hypotonia, feeding difficulties, global developmental delay
Older: Excessive eating, obesity, behavioral problems
Consider in cases of intellectual disability, hypothalamic
hypogonadism
Results from the lack of a paternally derived gene
normally present on chromosome 15.
Requires Multidisciplinary approach
GH becoming standard of care
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References
1. Dawn E. Peredo and Mark C. Hanniba. The Floppy
Infant Evaluation of Hypotonia. Pediatrics in Review Vol.
30 No. 9 September 1, 2009. pp. e66e76
2. Barbara K Burton. Inborn Errors of Metabolism in
Infancy: A Guide to Diagnosis. Pediatrics Vol. 102 No. 6
December 1, 1998 pp. e69
3. Cassidy et al. Prader-Willi Syndrome: Consensus
Diagnostic Criteria. Pediatrics Vol. 91 No. 2 February 1,
1993. pp. 398 -402
4. Bode. Index of Suspicion Case 4. Pediatrics in Review
Vol. 26 No. 9 September 1, 2005
5. Medical Home Portal