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 Neiman-Pick, gangliosidosis, Gaucher, fucosidosis, Wolman, glycogen storage, sialiodosis, galactosialiodosis, a-mannosidosis.

Metabolic:

Hepatosplenomegaly: Causes

Malignancies:

Leukemia, histiocytic syndromes, myeloproliferative syndromes, lymphomas,

Immunological:

Chronic granulomatous, heriditory neutrophilia, Omm syndrome. Congenital hepatic fibrosis Hepatic vein obstruction, constrictive pericarditis

Developmental:

Congestive:

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. Absence of anaemia, jaundice and in the presence of huge spleenomegaly. Normal blood report, absence of lymphadenopathy

Haematological unlikely:

Malignancies unlikely:

This patient
Immunological unlikely:

Normal liver function, absence of hypereosinophilia and diarrhoea Absence of features of portal hypertension
Absence of cardiac insufficiency signs, absence of ascitis.

Developmental unlikely:

Congestive unlikely:

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.