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, 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: 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

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.

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.