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Familial hemi‐polymicrogyria and neurofibromatosis type 1
Author(s) -
McLellan A.,
Harding B.,
Cross H.
Publication year - 2002
Publication title -
neuropathology and applied neurobiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.538
H-Index - 95
eISSN - 1365-2990
pISSN - 0305-1846
DOI - 10.1046/j.1365-2990.2002.39286_28.x
Subject(s) - polymicrogyria , epilepsy , cortical dysplasia , medicine , neurofibromatosis , neuropsychology , macrocephaly , psychology , neuroscience , pathology , cognition
Background: There have been rare reports of cerebral cortical malformations occurring in individuals with neurofibromatosis type 1 (NF1) but, to our knowledge, none with polymicrogyria. This communication concerns two brothers with right unilateral hemipolymicrogyria, one of who clinically has NF1. Observations: The index case, a boy, presented at 22 months of age with macrocephaly and developmental delay, cutaneous stigmata of NF1 and a mild left hemiplegia. He developed drug resistant epilepsy, which led to focal resective surgery. Full‐scale IQ was 64 with poor memory performance. MRI demonstrated right hemisphere polymicrogyria, while functional imaging involving passive movement of the left hand showed activation in the dysplastic right sensorimotor cortex. Neuropathological examination of the focal resection confirmed polymicrogyria. His older brother showed mild learning difficulties at school but does not have cutaneous signs of NF1 or epilepsy. Psychometry revealed IQ of 87 with difficulties in working memory. Structural and functional MRI studies were similar to his brother. Comment: Both brothers show extensive hemipolymicrogyria, with similar functional imaging and neuropsychological profiles, but only one brother has signs of NF1. Several maternal relatives also have NF1, and presently genetic studies are being undertaken to determine possible causal links or an independent mutation.