Niemann-Pick disease - type B - one center experience
نویسندگان
چکیده
منابع مشابه
Niemann-Pick type C disease.
A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...
متن کامل[Niemann-Pick disease (type C)].
A 15-year old girl with slowly progressive gait and speech disorders, and with impairment of mental ability, is decsribed. The disease appeared 18 months before the first hospitalization at the Department of Neurology and Physchiatry for Children and Young People. Neurological and other examinations confirmed extrapyramidal and cerebellar signs, conspisuous knee and ankle reflexes, marked splen...
متن کاملNiemann-Pick disease type C
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. Approximatively 95% of patients have mutations in the NPC1 gene (mapped at 18q11) which encodes a large membran...
متن کاملPulmonary involvement in Niemann-Pick type B disease.
Bone marrow biopsy showed infiltration by numerous histiocytes. Some of the histiocytes contained vacuolated cytoplasm whilst others contained granules that stained deep blue with the May-Grünwald-Giemsa stain (Figure 2). This histological pattern was indicative of Niemann-Pick disease. Confirmation of this diagnosis was obtained by lysosomal enzyme assay that showed undetectable sphingomyelina...
متن کاملNiemann-Pick disease type B: HRCT assessment of pulmonary involvement
OBJECTIVE To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics. METHODS We studied 13 patients (3 males and 10 females) aged 5 to 56 years. HRCT images were independently evaluated by two observers, and disagreements we...
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ژورنال
عنوان ژورنال: Scripta Scientifica Medica
سال: 2009
ISSN: 1314-6408,0582-3250
DOI: 10.14748/ssm.v41i2.444