Tags

Type your tag names separated by a space and hit enter

Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies.
Neuromuscul Disord. 2010 Dec; 20(12):783-90.ND

Abstract

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.

Authors+Show Affiliations

Department of Neuropathology, Institute for Neurological Research, FLENI, Buenos Aires, Argentina. ataratuto@fleni.org.arNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20833045

Citation

Taratuto, A L., et al. "Branching Enzyme Deficiency/glycogenosis Storage Disease Type IV Presenting as a Severe Congenital Hypotonia: Muscle Biopsy and Autopsy Findings, Biochemical and Molecular Genetic Studies." Neuromuscular Disorders : NMD, vol. 20, no. 12, 2010, pp. 783-90.
Taratuto AL, Akman HO, Saccoliti M, et al. Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. Neuromuscul Disord. 2010;20(12):783-90.
Taratuto, A. L., Akman, H. O., Saccoliti, M., Riudavets, M., Arakaki, N., Mesa, L., Sevlever, G., Goebel, H., & DiMauro, S. (2010). Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. Neuromuscular Disorders : NMD, 20(12), 783-90. https://doi.org/10.1016/j.nmd.2010.07.275
Taratuto AL, et al. Branching Enzyme Deficiency/glycogenosis Storage Disease Type IV Presenting as a Severe Congenital Hypotonia: Muscle Biopsy and Autopsy Findings, Biochemical and Molecular Genetic Studies. Neuromuscul Disord. 2010;20(12):783-90. PubMed PMID: 20833045.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. AU - Taratuto,A L, AU - Akman,H O, AU - Saccoliti,M, AU - Riudavets,M, AU - Arakaki,N, AU - Mesa,L, AU - Sevlever,G, AU - Goebel,H, AU - DiMauro,S, Y1 - 2010/09/15/ PY - 2010/03/17/received PY - 2010/07/08/revised PY - 2010/07/21/accepted PY - 2010/9/14/entrez PY - 2010/9/14/pubmed PY - 2011/3/8/medline SP - 783 EP - 90 JF - Neuromuscular disorders : NMD JO - Neuromuscul Disord VL - 20 IS - 12 N2 - 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. SN - 1873-2364 UR - https://www.unboundmedicine.com/medline/citation/20833045/Branching_enzyme_deficiency/glycogenosis_storage_disease_type_IV_presenting_as_a_severe_congenital_hypotonia:_muscle_biopsy_and_autopsy_findings_biochemical_and_molecular_genetic_studies_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-8966(10)00570-5 DB - PRIME DP - Unbound Medicine ER -