[Niemann Pick disease A: a case report]. / Maladie de Niemann Pick type A : à propos d'un cas.

The Niemann Pick disease is a rare lysosomal storage disease responsible for numerous cytological abnormalities of blood cells and bone marrow. The diagnosis requires enzymatic dosages, which can be long and difficult. In this context, the detection of inconstant cytologic anomalies in blood and bone marrow smears, allowing a rapid screening, is an important step in the diagnostic approach. We report the case of a 6 year-old child who presents with abdominal distension; medullogram was performed and revealed the presence of vacuolated cells overload. Correlated with clinical and biochemical data, medullogam results confirmed the diagnosis of type A Niemann Pick disease.