Muscle-Eye-Brain Disease

Anant M Shenoy; Jennifer A Markowitz; Carsten G Bonnemann; Kalpathy Krishnamoorthy; Aaron D Bossler; Brian S Tseng

doi:10.1097/CND.0b013e3181c5054d

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Journal article

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Muscle-Eye-Brain Disease

Anant M Shenoy, Jennifer A Markowitz, Carsten G Bonnemann, Kalpathy Krishnamoorthy, Aaron D Bossler and Brian S Tseng

Journal of clinical neuromuscular disease, Vol.11(3), pp.124-126

03/2010

DOI: 10.1097/CND.0b013e3181c5054d

PMCID: PMC2925645

PMID: 20215985

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https://www.ncbi.nlm.nih.gov/pmc/articles/2925645View

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Abstract

A term female infant was evaluated for global developmental delay, hypotonia, hyporeflexia, diffuse weakness including facial muscles, and visual impairment with optic nerve hypoplasia. In the absence of family history or perinatal concerns, an extensive investigation was performed, including lab studies, muscle biopsy, brain MRI and focused genetic testing. This revealed elevated serum CK, a structurally abnormal brain, and a dystrophic-appearing muscle biopsy with evidence of a glycosylation defect in the alpha-dystroglycan complex. Of the 6 known related genes, testing of the POMGnT1 gene showed three heterozygous missense mutations. Thus her history, examination, biopsy specimen, imaging, laboratory, and genetic studies are all consistent with the diagnosis of Muscle-Eye-Brain (MEB) disease. MEB is one of an emerging spectrum of congenital disorders that involve both central and peripheral nervous systems, described further in this case report.

POMT2

FKRP

dystroglycanopathy

congenital brain malformations

fukuyama muscular dystrophy

POMT1

muscle biopsy

congenital muscular dystrophy

POMGnT1

Fukutin

syndrome

LARGE

Walker Warburg

Muscle-Eye-Brain disease

Details

Title: Subtitle: Muscle-Eye-Brain Disease
Creators: Anant M Shenoy - Department of Neurology, Massachusetts General Hospital, Boston, MA
Jennifer A Markowitz - Department of Neurology, Massachusetts General Hospital, Boston, MA
Carsten G Bonnemann - Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA
Kalpathy Krishnamoorthy - Division of Child Neurology, Department of Neurology, Massachusetts General Hospital, Boston, MA
Aaron D Bossler - Department of Pathology, Carver College of Medicine, University of Iowa, Iowa City, Iowa
Brian S Tseng - Division of Child Neurology, Department of Neurology, Massachusetts General Hospital, Boston, MA
Resource Type: Journal article
Publication Details: Journal of clinical neuromuscular disease, Vol.11(3), pp.124-126
DOI: 10.1097/CND.0b013e3181c5054d
PMID: 20215985
PMCID: PMC2925645
NLM abbreviation: J Clin Neuromuscul Dis
ISSN: 1522-0443
eISSN: 1537-1611
Language: English
Date published: 03/2010
Academic Unit: Pathology
Record Identifier: 9984047721402771

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