کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3080115 1581081 2010 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies
چکیده انگلیسی

The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. We report an infant girl with severe generalized hypotonia, born at 33 weeks gestation who required ventilatory assistance since birth. She had bilateral ptosis, mild knee and foot contractures and echocardiographic evidence of cardiomyopathy. A muscle biopsy at 1 month of age showed typical polyglucosan storage. The autopsy at 3.5 months of age showed frontal cortex polymicrogyria and polyglucosan bodies in neurons of basal ganglia, thalamus, substantia innominata, brain stem, and myenteric plexus, as well as liver involvement. Glycogen branching enzyme activity in muscle was virtually undetectable. Sequencing of the GBE1 gene revealed a homozygous 28 base pair deletion and a single base insertion at the same site in exon 5. This case confirms previous observations that GBE deficiency ought to be included in the differential diagnosis of congenital hypotonia and that the phenotype correlates with the ‘molecular severity’ of the mutation.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 20, Issue 12, December 2010, Pages 783–790
نویسندگان
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