1. Approach To A Child With Hepatosplenomegaly
Dr. Pushpa Raj Sharma
Professor of Child Health
Institute of Medicine

2. 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

3. 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

4. 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

5. 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

6. 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, toxoplasma
Bacterial: sepsis; tuberculosis, brucellosis, syphilis,
Helminths: hydatid, visceral larva migrans
Fungal: histoplasmosis

7. Hepatosplenomegaly: Causes
Haemopoetic:
Haemolytic: haemolytic disease of newborn thalassaemia;
Anaemia
Metabolic:
Neiman-Pick, gangliosidosis, Gaucher, fucosidosis, Wolman, glycogen storage, sialiodosis, galactosialiodosis, a-mannosidosis.

8. 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

9. 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.

10. This patient Protozoal unlikely: Haematological 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

11. This patient Immunological unlikely: Developmental 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.

12. 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

13. 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,

14. 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.