Infantile convulsions and paroxysmal kinesigenic choreoathetosis in a patient with idiopathic hypoparathyroidism.
We reported a 15-year-old boy with idiopathic hypoparathyroidism who presented with paroxysmal kinesigenic choreoathetosis at age 10. Calcium levels were low and intact parathyroid hormones were undetectable in serum. Computed tomography showed calcifications in the basal ganglia, thalamus, and cerebral white matter. He had a history of infantile convulsions with a benign outcome. The convulsions occurred in clusters at age 2.5 months, but they never recurred. This patient's clinical features were phenotypically indistinguishable from those of infantile convulsions and choreoathetosis (ICCA) syndrome
Hattori
H
H
Department of Pediatrics, Kyoto University School of Medicine, Kyoto, Japan. hhat@kuhp.kyoto-u.ac.jp
Yorifuji
T
T
D000293:Adolescent; D001264:Athetosis / Q000175:diagnosis*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002114:Calcinosis / Q000000981:diagnostic imaging; D002819:Chorea / Q000175:diagnosis*; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis*; D008297:Male; D013036:Spasms, Infantile / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed