Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C
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 کاملClinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease
Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 Mexican patients from different families with juvenile presentation of NPC. Clinical examination, ...
متن کاملNiemann-Pick disease type C: analysis of 7 patients.
BACKGROUND Niemann-Pick disease type C (NP-C), derived from mutation of the NPC1 or NPC2 gene, is one of the recessive lysosomal lipid storage disorders that are difficult to diagnose and treat. Since NP-C has been rarely reported in China, we reviewed 7 patients with NP-C. METHODS The 7 patients had been diagnosed with NP-C from 2007 to 2010 at our department and their laboratory and clinica...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2001
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-200109000-00003