[A patient with epilepsy, congenital alopecia and mental retardation: combination of atypical absence in waking and nocturnal partial seizure].
We report a 7-year-old girl with epilepsy, congenital alopecia, and mental retardation. She was hairless at birth. Very scanty hair, eyebrows and eyelashes appeared at 2 years of age. Developmental delay was first recognized at 6 years. Nocturnal partial seizures occurred at 4 years, and atypical absence in waking at 6 years. Electroencephalogram showed spike-waves in the centrotemporal area which increased and developed into a generalized continuous spike and wave complexes upon sleeping at the age of 7 years 1 month. Ictal electroencephalogram in atypical absence showed generalized 3 c/s spike and wave complexes. Skin biopsy of the scalp showed scanty, immature hair follicles and immature sebaceous glands. Whether this case is related to ectodermal dysplasia is unclear.
Arita
J
J
Department of Pediatrics, Jikei University School of Medicine, Tokyo.
Maekawa
K
K
Matsushima
H
H
Eto
Y
Y
Harada
T
T
Hano
H
H
Morikawa
T
T
D000505:Alopecia / Q000151:congenital*; D002648:Child; D002940:Circadian Rhythm; D004476:Ectodermal Dysplasia; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000150:complications* / Q000503:physiopathology; D004832:Epilepsy, Absence / Q000150:complications* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D012890:Sleep / Q000502:physiology; D014851:Wakefulness / Q000502:physiology