Niemann Pick disease A: a case report

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 bon...

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Bibliographic Details
Published inAnnales de biologie clinique (Paris) Vol. 68; no. 6; p. 733
Main Authors Hassani, Moncef Amrani, Alami, Meryem, Baba, Ahmed Filali, Lahlou, Hazar, Baba Khouya, Abdeladim, Akoudad, Zahra, Atmani, Samir, Hida, Mustapha
Format Journal Article
LanguageFrench
Published France 01.11.2010
Subjects
Bone Marrow - pathology
Child
Female
Hepatomegaly
Humans
Niemann-Pick Disease, Type A - diagnosis
Splenomegaly
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Summary: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.
ISSN:0003-3898
DOI:10.1684/abc.2010.0488