کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3085814 1189833 2010 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder
چکیده انگلیسی

The mucolipidoses are a heterogeneous group of autosomal recessive neurodegenerative lysosomal storage disorders. Mucolipidosis type IV is rare; it is seen predominantly in the Ashkenazi Jewish population and usually presents with global neurodevelopmental delays in infancy, subtle corneal opacifications or clouding, and very slowly progressive neurodegeneration over many years. Elevation of serum gastrin is reported; findings from x-rays of bone and joints and lysosomal studies are normal. Reported here are two cases of mucolipidosis type IV in children not of Ashkenazi Jewish origin who presented during infancy with nonspecific global psychomotor delays, generalized hypotonia, and mild corneal abnormalities, but remained undiagnosed for years. A rare gene mutation in MCOLN1 was confirmed in one of the two patients, in addition to abnormal serum gastrin levels. More striking was the length of time that these children eluded detection of their final diagnosis.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 42, Issue 3, March 2010, Pages 223–226
نویسندگان
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