Transcript Approach To A Child With Hepatosplenomegaly

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, Omm
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 :



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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.