Lissencephaly associated with congenital hypomyelinating and axonal neuropathy.
The authors describe an 11-year-old male with severe mental retardation, hypotonia, and arthrogryposis, with both type I lissencephaly and a congenital peripheral neuropathy, probably hypomyelinating with axonal involvement. To the best of the authors' knowledge, this is the first report involving the co-occurrence of these two developmental disorders. A viral, metabolic, or nutritional insult acting throughout the period of migration and myelination or a contiguous gene linkage are possible explanations for this disorder.
Nissenkorn
A
A
Pediatrics Department, Wolfson Medical Center, Holon, Israel.
Weintraub
S
S
Sadeh
M
M
Lerman-Sagie
T
T
D001369:Axons / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D006801:Humans; D007866:Leg / Q000294:innervation; D008279:Magnetic Resonance Imaging; D008297:Male; D009186:Myelin Sheath / Q000473:pathology*; D009431:Neural Conduction / Q000502:physiology; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000151:congenital / Q000473:pathology* / Q000503:physiopathology; D011930:Reaction Time / Q000502:physiology