INTRODUCTION:

Niemann Pick disease type A (ENP-A) is a lysosomal storage disease caused by a deficit of acid sphingomyelinase enzyme (ASM), which results in the accumulation of sphingomyelin in cells of the reticuloendothelial and central nervous system.

OBJECTIVE:

We describe the clinical course of the ENP-A in twelve patients, three boys and nine girls, between the ages of 3-33 months.

MATERIAL AND METHODS:

The retrospective study was based on the medical files of the 12 patients, evaluated with a complete physical and ophthalmologic examination, as well as laboratory tests, abdominal ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) of the brain, chest radiography, echocardiography, EEG, upper gastrointestinal series, and bone age. Information about intercurrent diseases and causes of death, were obtained.

RESULTS:

The symptoms started at 5.9 months (2-16 months) and the definitive diagnosis was made at the age of 15.6 months (3-33 months) through suggestive clinical manifestations, with a presence of foam cells in the bone marrow of 12/12 patients (100%) and ASM enzyme deficiency in 12/12 patients (100%); hepatic biopsy was suggestive in 5/12 (41.6%). Clinical signs in order of frequency were: hepatosplenomegaly and neurological disease in 12/12 (100%), lung disorder 11/12 (91.6%), hematologic affection 9/12 (80%), cherry-red spot 9/12 (75%), bone involved 6/12 (50%), and cardiac disease 4/12 (33.3%). Only 4 cases (33.3%) were consanguineous.

CONCLUSIONS:

The clinical course of the ENP-A is very similar among affected patients; the first clinical manifestation detected was hepatosplenomegaly. The first 4 months of life of the patients were asymptomatic; then they showed a neurodegenerative course that leads to death before reaching the age of 3 years.