Anticonvulsant syndrome with multiple symptoms, including porphyria, IgA deficiency, and liver dysfunction.
A 19-year-old Japanese female who had been treated for epilepsy with a combined phenytoin-phenobarbital preparation for the past three years presented with increasing skin pigmentation and hirsutism. She had suffered two attacks of loss of consciousness after bilateral partial oophorectomy at the age of 16. Investigations revealed a marked increase in coproporphyrin levels in the urine and feces, a marked decrease in her serum IgA level, and liver dysfunction. All these manifestations gradually improved upon the withdrawal of her antiepileptic treatment. In vitro studies revealed B cell dysfunction producing IgA deficiency, which normalized within one year after discontinuation of the antiepileptic therapy. It was assumed that her treatment had worsened preexisting porphyria, which was misdiagnosed as epilepsy because of abnormal EEG findings. The type of porphyria appeared to be hereditary coproporphyria, despite the lack of a family history.
Ono
T
T
Department of Dermatology, Kumamoto University Medical School, Japan.
Johno
M
M
Kayashima
K
K
Omori
A
A
D000328:Adult; D000927:Anticonvulsants / Q000009:adverse effects*; D056486:Chemical and Drug Induced Liver Injury; D003951:Diagnostic Errors; D004827:Epilepsy / Q000175:diagnosis; D005260:Female; D006801:Humans; D017098:IgA Deficiency; D007070:Immunoglobulin A / Q000032:analysis; D011164:Porphyrias / Q000139:chemically induced* / Q000175:diagnosis; D011166:Porphyrins / Q000032:analysis; D012871:Skin Diseases / Q000139:chemically induced*; D013577:Syndrome
D000927:Anticonvulsants; D007070:Immunoglobulin A; D011166:Porphyrins