Key result
IV calcium gluconate followed by oral vitamin D resolves hypocalcemic convulsions in adult 22q11.2 deletion syndrome.
Why the study?
Hypocalcemia due to hypoparathyroidism is an important but often delayed diagnosis in adults with recurrent convulsions and complex medical histories.
Case Report (n=1)
Hypocalcemia due to hypoparathyroidism should be considered in the differential diagnosis of adult recurrent convulsions, which may be related to delayed diagnosis of 22q11.2 deletion syndrome.
Case A 49‐year‐old man had idiopathic epilepsy with recurrent convulsions and history of cleft palate, mental retardation, schizophrenia, and cataract. He had convulsions the day before and on the day of admission. Fosphenytoin was given i.v.; his convulsion stopped, but he lost consciousness 2 h later and was admitted. Glasgow Coma Scale score on arrival was 3. Cerebral computed tomography showed bilateral calcification in the basal ganglia. Laboratory tests showed decreased serum calcium and albumin and increased creatine kinase. He regained consciousness after i.v. calcium gluconate administration. Additionally, he showed decreased parathyroid hormone and 1,25(OH)2 vitamin D. Suspecting hypoparathyroidism, i.v. calcium gluconate was changed to oral vitamin D. His medical history and physical appearance suggested 22q11.2 deletion syndrome, confirmed by chromosomal analysis. Outcome The patient was discharged after 29 days and remains convulsion‐free. Conclusion Hypocalcemia due to hypoparathyroidism should be considered in the differential diagnosis of adult recurrent convulsions.
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Okazaki et al. (2016) conducted a case report in Recurrent convulsions, hypocalcemia, hypoparathyroidism, 22q11.2 deletion syndrome (n=1). Intravenous calcium gluconate and oral vitamin D was evaluated on Resolution of convulsions and recovery of consciousness. Intravenous calcium gluconate followed by oral vitamin D successfully treated recurrent convulsions and hypocalcemia in a 49-year-old man with delayed diagnosis of 22q11.2 deletion syndrome.
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