Presentation on theme: "Approach To A Child With Hepatosplenomegaly"— Presentation transcript:
1 Approach To A Child With Hepatosplenomegaly Dr. Pushpa Raj SharmaProfessor of Child HealthInstitute 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
9 This patientInfective 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 diarrhoeaDevelopmental unlikely:Absence of features of portal hypertensionCongestive 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, seizureGauchers:Features of bone marrow involvement, skeletal complicationsFucosidosis:Macroglossia, neurodegenerative featuresWolman disease:Failure to thrive, steatorrhoea, relentless vomiting
13 Metabolic Diseases Causing Hepatosplenomegaly Glycogen storage Type IV:Failure to thrive, cardiomyopathy, myopathyMucopolysaccharidoses: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 BType A: hepatosplenomegaly, moderate lymphadenopathy, psychomotor retardation.Type B: splenomegaly first manifestation, recurrent pneumonias, normal IQ.