Partial Seizures With Focal Epileptogenic Electroencephalographic Patterns in Three Related Female Patients With Fragile-X Syndrome

Journal of Child Neurology - Tập 14 Số 2 - Trang 108-112 - 1999
Rita Singh1, Grant R. Sutherland2, James Manson3
1Department of Neurology, Women's and Children's Hospital, North Adelaide, Australia, South Australia.
2Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, Australia
3Department of Neurology, Women's and Children's Hospital, North Adelaide, Australia

Tóm tắt

Epilepsy and abnormal electroencephalographic (EEG) patterns have been reported in mentally retarded males with fragile-X syndrome, but the high incidence of epilepsy in such persons has been recognized only recently. These individuals have focal spikes in the EEG similar to the benign rolandic pattern. Female carriers have very rarely been reported to have epilepsy or nonspecific abnormal EEG patterns. We report partial seizures with a focal epileptogenic EEG pattern in two sisters and their grandmother, who are all carriers of fragile-X syndrome. The sisters have mild developmental delay, but the grandmother is of normal intelligence. The mother of the two sisters is known to be a carrier of the fragile-X chromosome and is of normal intelligence, with no history of seizures. It is important for physicians to be aware of the possibility that females presenting with partial seizures of unknown cause may be fragile-X carriers, and enquiry for a family history of intellectual disability should be pursued. (J Child Neurol 1999;14:108-112).

Từ khóa


Tài liệu tham khảo

Lubs HA, 1969, Am J Hum Genet, 21, 231

10.1002/ajmg.1320380274

Sutherland GR, 1994, Acta Paediatr Sin, 35, 94

Mulley JC, 1994, Fetal Matern Med Rev, 6:1

10.1002/ajmg.1320020410

10.1002/ajmg.1320440502

10.1111/j.1528-1157.1988.tb05096.x

10.1002/ajmg.1320380276

10.1136/jmg.25.6.407

10.1002/ajmg.1320310220

Hagerman RJ, 1991, Fragile X Syndrome. Diagnosis, Treatment and Research

10.1002/ajmg.1320230153

10.1002/ajmg.1320380267

Lastochkina NA, 1992, Zh-Neveropatol-Psikhiatr, 92, 28

10.1111/j.1528-1157.1975.tb06059.x

10.1111/j.1528-1157.1987.tb03655.x

10.1093/brain/118.1.61

Aicardi J.: Diseases of the Nervous System in Childhood. London , MacKeith Press, 1992, p 1343.

Thông tin
Thông tin xuất bản

Journal of Child Neurology

Tập 14 Số 2

108-112

Thông tin tác giả