Perisylvian polymicrogyria, infantile spasms and arthrogryposis: the severe end of the spectrum of congenital bilateral perisylvian polymicrogyria.
Congenital bilateral perisylvian polymicrogyria (CBPP) is the most frequent type of polymicrogyria in children. A 3-month-old male patient is described here with the combination of CBPP, infantile spasms and arthrogryposis. Only four patients have been reported earlier in the literature with this combination. Three of them had epilepsy. These patients represent the more severe phenotype of CBPP, characterized by early onset of symptoms, epilepsy, mental retardation, pseudobulbar palsy and arthrogryposis.
De Coene
Anja
A
University Hospital Ghent, Department of Pediatric Neurology, Belgium. anja.decoene@ugent.be
Van Coster
Rudy
R
Verhelst
Helene
H
D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D000927:Anticonvulsants / Q000494:pharmacology; D001176:Arthrogryposis / Q000209:etiology*; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000503:physiopathology*; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000473:pathology* / Q000503:physiopathology*; D008831:Microcephaly / Q000209:etiology; D010276:Parasympatholytics / Q000494:pharmacology; D020828:Pseudobulbar Palsy / Q000209:etiology; D013036:Spasms, Infantile / Q000209:etiology*
D000927:Anticonvulsants; D010276:Parasympatholytics; D000324:Adrenocorticotropic Hormone