Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies
| Autor: | Miguel A. Riudavets, M. Saccoliti, L. Mesa, Salvatore DiMauro, Hans-Hilmar Goebel, Hasan O. Akman, Ana Lia Taratuto, Gustavo Sevlever, Naomi Arakaki |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Pathology
medicine.medical_specialty Muscle Hypotonia Cardiomyopathy Autopsy Glycogen Storage Disease Type IV Fatal Outcome 1 4-alpha-Glucan Branching Enzyme medicine Glycogen branching enzyme Polymicrogyria Humans Glycogen storage disease type IV Muscle Skeletal Genetics (clinical) Muscle biopsy medicine.diagnostic_test biology Infant Newborn Brain Infant medicine.disease Neurology Pediatrics Perinatology and Child Health biology.protein Female Neurology (clinical) Differential diagnosis Infant Premature |
| Zdroj: | Neuromuscular disorders : NMD. 20(12) |
| ISSN: | 1873-2364 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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