Approach To A Child With Hepatosplenomegaly

Dr. Pushpa Raj Sharma

Professor of Child Health

Institute of Medicine

Case History

Eight months, male, from Rupandehi. Fever with cough and difficulty breathing for

one week, more severe for one day. Progressive abdominal distension for 4

months. Repeated pneumonia since 3 months of life

History contd.

Uneventful perinatal period. Exclusive breast feeding for 3 months. Repeated treatment with antibiotics since

four months of age for cough and fever. Gaining weight. Single child of parent. Other histories including developmental are

normal

Examination

Wt: 5 Kgs; Length: 64 cms; OFC: 39.5 cm Apyrexial; R/R: 66/min; P/R: 150/min. No pallor; no lymphadenopathy; no rash; no

cataract; no specific body odour. Chest indrawing present; bilateral creps. Normal heart sounds. Liver and spleen 5 and 8 cms below costal margin

respectively; non tender; smooth; firm. no ascitis; Other system normal

Investigations

Hb: 12.2.g/dL; TLC/DLC: normal; ESR: 20mm/hr. peripheral film/platelets: normal.

Blood sugar: 79mg/dL’Serum cholesterol:90mg/dL; Liver function: normal

Aldehyde test: negative. Stool/Urine: normal HIV:-ve; TORCH: -ve; USG abdomen: no ascitis, hepatosplenomegaly,

no structural abnormality

Hepatosplenomegaly: Causes

Infective:Viral: Hepatotrophic (A,B,C,D,E) and other viruses

(herpes, cytomegalo, Ebstein-Barr, varicella,HIV, rubella, adeno, entero, arbo.)

Protozoal: malaria, kalazar, amoebic, toxoplasmaBacterial: sepsis; tuberculosis, brucellosis, syphilis, Helminths: hydatid, visceral larva migransFungal: histoplasmosis

Hepatosplenomegaly: Causes

Haemopoetic: Haemolytic: haemolytic disease of newborn

thalassaemia; Anaemia

Metabolic: Neiman-Pick, gangliosidosis, Gaucher, fucosidosis,

Wolman, glycogen storage, sialiodosis, galactosialiodosis, a-mannosidosis.

Hepatosplenomegaly: Causes

Malignancies: Leukemia, histiocytic syndromes, myeloproliferative

syndromes, lymphomas, Immunological:

Chronic granulomatous, heriditory neutrophilia, Ommen syndrome.

Developmental: Congenital hepatic fibrosis

Congestive: Hepatic vein obstruction, constrictive pericarditis

This patient

Infective cause that can have lung, liver and spleen involvement: Sepsis/other bacterial infection unlikely: normal

blood count, normal immunological reports for HIV, TORCH, syphilis.

Viral infections unlikely: normal liver function test, no clinical evidence of congenital infections as:

Neonatal jaundice, retinitis, microcephaly, hydrocephaly, intracranial infections, osteochondritis, rash, normal weight and height for age.

This patient

Protozoal unlikely: Negative blood report (anaemia, jaundice,

pancytopenia), big hepatosplenomegaly. Haematological unlikely:

Absence of anaemia, jaundice and in the presence of huge spleenomegaly.

Malignancies unlikely: Normal blood report, absence of lymphadenopathy

This patient

Immunological unlikely: Normal liver function, absence of

hypereosinophilia and diarrhoea Developmental unlikely:

Absence of features of portal hypertension Congestive unlikely:

Absence of cardiac insufficiency signs, absence of ascitis.

This patient: Metabolic Diseases Causing Hepatosplenomegaly

Infantile GM1 gangliodidosis (type 1) Hepatosplenomegaly at birth, oedema, skin

erruptions, retardation development, seizure Gauchers:

Features of bone marrow involvement, skeletal complications

Fucosidosis: Macroglossia, neurodegenerative features

Wolman disease: Failure to thrive, steatorrhoea, relentless vomiting

Metabolic Diseases Causing Hepatosplenomegaly Glycogen storage Type IV:

Failure to thrive, cardiomyopathy, myopathy Mucopolysaccharidoses:

Corneal clouding, coarse hair, short stature, joint stiffness.

Sialidosis and galactodialidosis: Neonatal sepsis, dysostosis multiplex,

seizures, cherry red spots, mental retardation. a-mannodidosis:

Psychomotor retardation, dystosis multiplex,

This patient

Neiman-Pick disease : This could be the likely cause. Neiman-Pick disease: Two types A and B Type A: hepatosplenomegaly, moderate

lymphadenopathy, psychomotor retardation. Type B: splenomegaly first manifestation,

recurrent pneumonias, normal IQ.