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