Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci.
We report a case of congenital muscular dystrophy with secondary merosin deficiency, structural involvement of the central nervous system and mental retardation in an 8-year-old girl from a consanguineous family. She had early-onset hypotonia, generalized muscle wasting, with weakness especially of the neck muscles, joint contractures, mental retardation and high creatine kinase. Muscle biopsy showed dystrophic changes with partial deficiency of the laminin alpha(2) chain. Cranial magnetic resonance imaging revealed multiple small cysts in the cerebellum, without cerebral cortical dysplasia or white matter changes. The laminin alpha(2) chain (6q2), Fukuyama type congenital muscular dystrophy (9q31-q33) and muscle-eye-brain disease (1p32-p34) loci were all excluded by linkage analysis. We suggest that this case represents a new entity in the nosology of congenital muscular dystrophy.
Talim
B
B
Department of Pediatric Pathology, Hacettepe Children's Hospital, Ankara, Turkey.
Ferreiro
A
A
Cormand
B
B
Vignier
N
N
Oto
A
A
Göğüş
S
S
Cila
A
A
Lehesjoki
A E
AE
Pihko
H
H
Guicheney
P
P
Topaloğlu
H
H
D020863:Central Nervous System Cysts / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D007797:Laminin / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008565:Membrane Proteins; D009136:Muscular Dystrophies / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D015854:Up-Regulation / Q000235:genetics
C113587:FKTN protein, human; D007797:Laminin; D008565:Membrane Proteins; D011506:Proteins; C102645:laminin alpha 2; C097043:laminin alpha5