An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement

Ercan Demir; Kivilcim Gucuyener; Aysima Akturk; Beril Talim; Oznur Konus; Roberto Del Bo; Serena Ghezzi; Giacomo P. Comi

doi:10.1016/j.nmd.2009.07.006

An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement

Ercan Demir, Kivilcim Gucuyener, Aysima Akturk, Beril Talim, Oznur Konus, Roberto Del Bo, Serena Ghezzi, Giacomo P. Comi

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant α-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.

Original language	English
Pages (from-to)	692-695
Number of pages	4
Journal	Neuromuscular Disorders
Volume	19
Issue number	10
DOIs	https://doi.org/10.1016/j.nmd.2009.07.006
Publication status	Published - Oct 2009

Keywords

MEB
Mild phenotype
Severe eye abnormalities

ASJC Scopus subject areas

Clinical Neurology
Pediatrics, Perinatology, and Child Health
Genetics(clinical)
Neurology

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10.1016/j.nmd.2009.07.006

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title = "An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement",

abstract = "Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant α-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.",

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AU - Demir, Ercan

AU - Gucuyener, Kivilcim

AU - Akturk, Aysima

AU - Talim, Beril

AU - Konus, Oznur

AU - Del Bo, Roberto

AU - Ghezzi, Serena

AU - Comi, Giacomo P.

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AB - Muscle-eye-brain disease (MEB) is characterised by congenital muscular dystrophy, structural brain malformations and eye abnormalities. We report a MEB case whose presenting sign was congenital blindness. She was investigated primarily for eye abnormalities at onset. She had bilateral retinal detachment and microphthalmia. Mild axial hypotonia and motor retardation were attributed to cerebral disorder in another center. Muscle biopsy showed mild myopathic changes and significant α-dystroglycan deficiency. Analysis of the POMGnT1 showed a novel homozygous mutation 1814G>C, causing p.Arg605Pro change. This case expands the clinical spectrum of MEB with unusually severe eye abnormalities compared to mild skeletal muscle and brain involvement.

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KW - Severe eye abnormalities

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An unusual presentation of Muscle-Eye-Brain disease: Severe eye abnormalities with mild muscle and brain involvement

Abstract

Keywords

ASJC Scopus subject areas

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