Type 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports.
نویسندگان
چکیده
Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile subacute neuropathic variant of adult Gaucher disease in two of three siblings in a family.
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ورودعنوان ژورنال:
- Journal of clinical and diagnostic research : JCDR
دوره 9 2 شماره
صفحات -
تاریخ انتشار 2015