Hyperekplexia in a neonate: a novel finding in Fukuyama type congenital muscular dystrophy.
The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia. Our purpose is to draw attention to this first report of concomitant FCMD and hyperekplexia.
Gulhane Military School of Medicine, Department of Pediatrics, Division of Neonatology, Ankara, Turkey. drturantunc@yahoo.com
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Tunc
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Mungan
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Okulu
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Tiras
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Tekin
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Atasay
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Turmen
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D055673:Acrocallosal Syndrome / Q000175:diagnosis / Q000235:genetics; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002869:Chromosome Aberrations; D003241:Consanguinity; D004576:Electromyography; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D012021:Reflex, Abnormal / Q000235:genetics*; D014421:Turkey