Author/Authors :
Liang Lili نويسنده , Zhang Qigang نويسنده Department of Pediatric Endocrinology and Genetics,
Shanghai Institute for Pediatric Research, Xin Hua Hospital
Affiliated to Shanghai Jiao Tong University School of Medicine,
Shanghai, China , Gu Xuefan نويسنده Department of Pediatric Endocrinology and Genetics,
Shanghai Institute for Pediatric Research, Xin Hua Hospital
Affiliated to Shanghai Jiao Tong University School of Medicine,
Shanghai, China
Abstract :
Introduction Merosin Deficient Congenital muscular dystrophy type
1A (MDC1A) is a rare kind of congenital muscular dystrophy. Case
Presentation Here we report a Chinese case with a genetic diagnosis
exposing a novel point mutation and a novel exonic deletion in the
causative gene LAMA2. We collected the medical
history and did physical examination for the case. A set of auxiliary
examination was performed for the diagnosis. The patient exhibited
notable proximal weakness and was severely hypotonic. The CK increased
slightly. The brain MRI exposed leukodystrophy. The electromyogram
suggested myogenic muscle damage. Merosin was completely absent in the
visual field of muscle biopsy. Gene testing exposed that the proband was
a compound heterozygote with a heterozygous nonsense mutation c.817A
> T in exon 5 and a deletion involved exon 4 of
LAMA2 gene. The point mutation derived from the
mother while the exonic deletion derived from the father. The
asymptomatic sister carried the point mutation c.817A > T.
Conclusions This case expands the mutation spectrum of MDC1A and
highlights that the diagnosis of MDC1A should be suspected in the
presence of an elevated CK and abnormal white matter.