Niemann-Pick Disease Type B in a 21 Year Old Male.
Mymensingh Med J
; 25(2): 379-81, 2016 Apr.
Article
en En
| MEDLINE
| ID: mdl-27277377
ABSTRACT
Niemann-pick disease is a group of autosomal recessive disorder of lipid storage with progressive accumulation of sphingomyelin and other lipids in the lysosomes of various tissues. We are reporting a 21 year old male who had hepatosplenomegaly, cherry red macula and normal cognitive function. Bone marrow biopsy showed plenty of foam cells and sphingomyelinase level was low, thus conforming our diagnosis. Survival into adulthood and absence of gross neurological involvement suggests Niemann-Pick disease type B.
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Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Niemann-Pick Tipo B
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
País como asunto:
Asia
Idioma:
En
Año:
2016
Tipo del documento:
Article