MRI findings in Fukuyama congenital muscular dystrophy: a rare case report

Congenital muscular dystrophies (CMDs) are a group of phenotypically and genotypically heterogeneous muscular disorders with early infantile onset. Commonly encountered CMD's include Walker Warburg CMD, Fukuyama CMD, muscle-eye-brain disease and merosin-deficient CMD. Most of these diseases sho...

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Bibliographic Details
Published in:Acta neurologica Belgica 2012-12, Vol.112 (4), p.401-403
Main Authors: Jakkani, Ravi Kanth, Sureka, Jyoti, Shyam, S., Mani, Sunithi
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Brain - pathology
Child
Humans
Letter to the Editor
Magnetic Resonance Imaging
Male
Medicine/Public Health
Muscle Weakness - pathology
Neurology
Neuroradiology
Neurosciences
Walker-Warburg Syndrome - pathology
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Description
Summary:Congenital muscular dystrophies (CMDs) are a group of phenotypically and genotypically heterogeneous muscular disorders with early infantile onset. Commonly encountered CMD's include Walker Warburg CMD, Fukuyama CMD, muscle-eye-brain disease and merosin-deficient CMD. Most of these diseases show autosomal recessive pattern of inheritance with varying presentation of muscle weakness, hypotonia, mental retardation and ocular involvement. Fukuyama type is a unique form of CMD with high predilection for the Japanese population. MRI is the modality of choice to evaluate the brain anomalies in this disorder. Characteristic changes on cranial MRI aid in differentiating this disorder from other clinically simulating CMD's. We report a rare case of Fukayama CMD seen in a 6-year-old boy.
ISSN:0300-9009
2240-2993
DOI:10.1007/s13760-012-0077-2