Dr Ira Shah
M.D, DCH(Gold Medalist), FCPS, DNB

A 2 year old girl second of two children born of third degree consanguineous marriage hailing from Gorakhpur presented with progressive abdominal distension since 7 months and recurrent fever. She had no history of jaundice or Koch’s contact. Her older sister was absolutely asymptomatic. She had delayed motor milestones and was only able to sit at present. Her social development was normal. She was a full term normal delivery with a birth weight of 1.5 kg without any antenatal or postnatal complications. Her immunization status was not known. On examination, she was malnourished with weight of 7 kg and height of 72 cms. She had pallor, generalized lymphadenopathy, fronto-parietal bossing, angular cheilitis and oral candidiasis. She had a lumbar kyphosis. On systemic examination, she had splenohepatomegaly with a spleen palpable upto the umbilicus. Other systemic examination was normal. Investigations showed anemia (Hemoglobin = 4% gm/dl, MCV = 61 fl, MCH = 15.6 pg, MCHC = 25.6%) with neutropenia (WBC count = 4,900/cumm, 17% polymorphs, 81% lymphocytes and 2% eosinophils) with thrombocytopenia (74,000/cumm) with a reticulocyte count of 0.7%. Her renal and liver function tests were normal. HIV by ELISA was negative and hemoglobin electrophoresis was normal. Bone marrow aspiration was showing Niemann Pick’s Disease. Sphinogomyelinase enzyme levels could not be done due to unaffordability. Parents were advised for prenatal counseling for next pregnancy.

Niemann Pick Disease (NPD) is a lipid storage disorder that results from deficiency of the enzyme-acid sphingomyelinase. Two major types – A & B have been described. This enzymatic defect leads to accumulation of sphingomyelin in the monocytes, reticulo endothelial system and in type A even in the central nervous system. Thus patients present with progressive lung disease, hepatosplenomegaly, short stature and pancytopenia.

Niemann Pick Disease type A is usually fatal in childhood and patients may have prolonged jaundice at birth followed by hepatosplenomegaly, lymphadenopathy, psychomotor retardation and pancytopenia over a period of time as was seen in our patient. In later stages, spasticity and rigidity may be seen. Patients usually have a cherry-red spot on the fundus on ophthalmic examination.

Niemann Pick Disease type B leads to a variable clinical presentation. Most patients present with hepatosplenomegaly in infancy or childhood which becomes less conspicuous as age increases. Patients have pulmonary involvement in form of diffuse reticular or finely nodular involvement and life-threatening bronchopneumonia can occur. Hypersplenism can lead to pancytopenia. In type B disease, cherry-red spot is seen only occasionally. Neurological involvement is rare and may rarely lead to peripheral neuropathy and learning disability. Growth retardation may lead to short stature in adult life.

Diagnosis of Niemann Pick Disease is by histopath finding of Niemann Pick cells on bone marrow examination. Diagnosis is confirmed by measurement of sphingomyelinase enzyme on cultured fibroblasts.

Niemann Pick type A disease is usually fatal in childhood whereas prognosis for type B disease is variable. Treatment is supportive. Prenatal diagnosis with amniocentesis or chorionic villus sampling is available.

Last updated: 1-04-2006