title: A case of Miller-Dieker syndrome in a family with neurofibromatosis type I.
abstract: The Miller-Dieker syndrome (type I lissencephaly) is a neuronal migration disorder which is associated with microdeletions in the short arm of chromosome 17. Neurofibromatosis type I (NF1) is an autosomal dominant condition associated with mutations in the long arm of chromosome 17, and characterised by neurofibromas, café-au-lait spots and axillary freckling. The neonatal period for a female infant born at 39 weeks gestation by emergency Caesarean section was complicated by frequent epileptic seizures as well as hypotonia. A computed tomography scan revealed evidence of lissencephaly, and chromosomal analysis showed a microdeletion on the short arm of chromosome 17 (17p13.3), confirming the diagnosis as Miller-Dieker syndrome. The child died at the age of 4 years and examination of the brain confirmed lissencephaly with a thickened cortex, deficient white matter, and grey matter heteropias. The mother had café-au-lait spots, and axillary freckling. In addition, the mother's and maternal grandmother's genetic analysis showed identical mutations in the neurofibromatosis I gene on the long arm of chromosome 17, confirming the diagnosis of NF1. The child did not possess the mutation. This case illustrates a rare neuronal migration disorder appearing in a child from a family with a history of NF1.
authors.affiliation: Department of Neuropathology, Institute of Psychiatry, Denmark Hill, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: King
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: C
authors.initials: C
authors.lastname: Penney
authors.forename: R
authors.initials: R
authors.lastname: Doshi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D006801:Humans; D009456:Neurofibromatosis 1 / Q000235:genetics / Q000473:pathology*; D013577:Syndrome