[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.
Department of Pediatrics, Jikei University School of Medicine, Tokyo.
J
J
Arita
K
K
Maekawa
H
H
Matsushima
Y
Y
Eto
T
T
Harada
H
H
Hano
T
T
Morikawa
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