Polymicrogyria in glycogenosis type III: an incidental finding?
The purpose of the present report is to document a 20-year-old woman with glycogenosis type III who presented a malformation of cortical development, in this case a polymicrogyria over bilateral perisylvian regions. Association of a malformation of cortical development in this type of glycogenosis has not been previously reported. The existence of previous cases of glycogenosis associated with malformations of cortical development led us to believe that glycogen storage during pregnancy may act as a harmful prenatal event. On the other hand, the presence of a lesion associated with severe neurologic deficits in one patient with a milder form of glycogenosis is in disagreement with the idea that there is a strong correlation between the severity of the central nervous system lesion and that of the disease.
Laboratory of Clinical Neurophysiology, University of São Paulo Medical School, São Paulo, Brazil.
Silvia
S
Vincentiis
Kette D
KD
Valente
Marcelo
M
Valente
D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology*; D005260:Female; D006010:Glycogen Storage Disease Type III / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D009421:Nervous System Malformations / Q000473:pathology