Presentation on theme: "Approach To A Child With Hepatosplenomegaly Dr. Pushpa Raj Sharma Professor of Child Health Institute of Medicine."— Presentation transcript:
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
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.