A case of Miller-Dieker syndrome in a family with neurofibromatosis type I |
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Authors: | A King M Upadhyaya C Penney R Doshi |
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Institution: | (1) Department of Neuropathology, Institute of Psychiatry, De Crespigny Park, Denmark Hill, London SE5 8AF, UK Tel.: +44-171-9193274, Fax: +44-171-7083895, GB;(2) Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff Wales, GB;(3) Department of Neuroimaging, King’s College Hospital, Bessemer Road, London, UK, GB |
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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.
Received: 15 April 1999 / Revised, accepted: 30 July 1999 |
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Keywords: | Miller-Dieker Lissencephaly Migration Neurofibromatosis |
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