Nonprogressive familial leukoencephalopathy with porencephalic cyst and focal seizures.
Two siblings with a similar white-matter disease but different clinical symptoms are described. The first sibling suffers from nonprogressive spastic hemiparesis secondary to a congenital periventricular porencephalic cyst. Her brother has focal epilepsy. On magnetic resonance imaging, both patients show diffuse white-matter involvement predominantly of the posterior periventricular area. We suggest that this is a familial white-matter disorder with minimal symptoms and no progression in early childhood.
Blumkin
Lubov
L
Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel.
Watemberg
Nathan
N
Lev
Dorit
D
Malinger
Gustavo
G
Luckman
Yehudit
Y
Ben-Zeev
Bruria
B
Lerman-Sagie
Tally
T
D001921:Brain / Q000473:pathology; D020863:Central Nervous System Cysts / Q000235:genetics*; D002552:Cerebral Ventricles / Q000473:pathology*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006429:Hemiplegia / Q000175:diagnosis / Q000235:genetics; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007089:Image Enhancement; D007091:Image Processing, Computer-Assisted; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology