Avtor/Urednik		Al-Ajmi, Mohammed Oweidah A; Abdulla, Jameela K; Neubauer, David
Naslov		A case of merosin-negative congenital muscular dystrophy with extensive white matter abnormalities and electroencephalographic changes in a Syrian boy
Tip		članek
Vir		J Med Liban
Vol. in št.		Letnik 49, št. 3
Leto izdaje		2001
Obseg		str. 173-8
Jezik		eng
Abstrakt		Congenital muscular dystrophies are a group of heterogeneous disorders inherited as an autosomal recessive disease. In the Caucasians they are most frequently encountered as the so-called "pure" or occidental form. Recently it has been found that the severity of concomitant white matter changes depends on the presence or absence of merosin, the laminin isoform, in the skeletal muscle. The authors present a 2-year-old Syrian boy with congenital muscular dystrophy which proved to be merosin (laminin alpha2) deficient and believe that this is the first case desribed from Syria. The clinical picture, biochemical findings, neurophysiological investigations, biopsy findings and extensive abnormalities of white matter on magnetic resonance imaging (MRI) found in this case are presented. Peculiar electroeqcephalographic (EEG) pattern with fast rhythms in occipito-temporal regions is emphasized.
Deskriptorji		MUSCULAR DYSTROPHY LAMININ CHILD, PRESCHOOL ELECTROENCEPHALOGRAPHY BIOPSY MAGNETIC RESONANCE IMAGING