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Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient
- Source :
- Neuromuscular Disorders. 9:251-256
- Publication Year :
- 1999
- Publisher :
- Elsevier BV, 1999.
-
Abstract
- We report a patient with congenital muscular dystrophy (CMD), developmental brain defects, and peripheral neuropathy. Marked hypotonia and plagiocephaly were noted at birth. Failure to thrive, generalized muscle weakness and wasting, absent deep tendon reflexes, partial seizures, and secondary microcephaly developed. Brain MRI showed a large area of cortical dysplasia, a thin but complete corpus callosum, and diffuse ventriculomegaly. Nerve conduction velocities were slow and creatine kinase levels only mildly elevated. Muscle biopsy showed dystrophic features with normal merosin, sarcoglycan, and dystrophin immunostaining. The Japanese Fukuyama CMD founder mutation was not detected. This is the first report of a patient with merosin-positive CMD, cobblestone lissencephaly, and demyelinating peripheral neuropathy.
- Subjects :
- congenital, hereditary, and neonatal diseases and abnormalities
Neural Conduction
Muscular Dystrophies
Central Nervous System Diseases
Fukuyama congenital muscular dystrophy
medicine
Humans
Muscle, Skeletal
Creatine Kinase
Genetics (clinical)
Cobblestone Lissencephaly
Muscle biopsy
medicine.diagnostic_test
biology
business.industry
Infant, Newborn
Brain
Peripheral Nervous System Diseases
DNA
Anatomy
medicine.disease
Magnetic Resonance Imaging
Hypotonia
Sarcoglycan
Peripheral neuropathy
Neurology
Pediatrics, Perinatology and Child Health
biology.protein
Congenital muscular dystrophy
Female
Neurology (clinical)
Atrophy
medicine.symptom
Dystrophin
business
Subjects
Details
- ISSN :
- 09608966
- Volume :
- 9
- Database :
- OpenAIRE
- Journal :
- Neuromuscular Disorders
- Accession number :
- edsair.doi.dedup.....a93fbe78c24d8bb15eb6c41a7abbec60