Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle‐aged man
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 la...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2016-10-01
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| Series: | Acute Medicine & Surgery |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ams2.216 |
| _version_ | 1818938568552218624 |
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| author | Tomoya Okazaki Toru Hifumi Tomohiro Ibata Arisa Manabe Hideyuki Hamaya Takuo Yoshimoto Hitomi Imachi Koji Murao Kenya Kawakita Yasuhiro Kuroda |
| author_facet | Tomoya Okazaki Toru Hifumi Tomohiro Ibata Arisa Manabe Hideyuki Hamaya Takuo Yoshimoto Hitomi Imachi Koji Murao Kenya Kawakita Yasuhiro Kuroda |
| author_sort | Tomoya Okazaki |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-20T06:09:55Z |
| format | Article |
| id | doaj.art-93948f74e17e434b813ef849e130df98 |
| institution | Directory Open Access Journal |
| issn | 2052-8817 |
| language | English |
| last_indexed | 2024-12-20T06:09:55Z |
| publishDate | 2016-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Acute Medicine & Surgery |
| spelling | doaj.art-93948f74e17e434b813ef849e130df982022-12-21T19:50:43ZengWileyAcute Medicine & Surgery2052-88172016-10-013439739910.1002/ams2.216Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle‐aged manTomoya Okazaki0Toru Hifumi1Tomohiro Ibata2Arisa Manabe3Hideyuki Hamaya4Takuo Yoshimoto5Hitomi Imachi6Koji Murao7Kenya Kawakita8Yasuhiro Kuroda9Emergency Medical Center Kagawa University Hospital Miki Kita Kagawa JapanEmergency Medical Center Kagawa University Hospital Miki Kita Kagawa JapanDepartment of Endocrinology Kagawa University Hospital Miki Kita Kagawa JapanEmergency Medical Center Kagawa University Hospital Miki Kita Kagawa JapanEmergency Medical Center Kagawa University Hospital Miki Kita Kagawa JapanDepartment of Endocrinology Kagawa University Hospital Miki Kita Kagawa JapanDepartment of Endocrinology Kagawa University Hospital Miki Kita Kagawa JapanDepartment of Endocrinology Kagawa University Hospital Miki Kita Kagawa JapanEmergency Medical Center Kagawa University Hospital Miki Kita Kagawa JapanEmergency Medical Center Kagawa University Hospital Miki Kita Kagawa JapanCase 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.https://doi.org/10.1002/ams2.216Convulsionhypocalcemiahypoparathyroidism22q11.2 deletion syndrome |
| spellingShingle | Tomoya Okazaki Toru Hifumi Tomohiro Ibata Arisa Manabe Hideyuki Hamaya Takuo Yoshimoto Hitomi Imachi Koji Murao Kenya Kawakita Yasuhiro Kuroda Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle‐aged man Acute Medicine & Surgery Convulsion hypocalcemia hypoparathyroidism 22q11.2 deletion syndrome |
| title | Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle‐aged man |
| title_full | Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle‐aged man |
| title_fullStr | Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle‐aged man |
| title_full_unstemmed | Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle‐aged man |
| title_short | Recurrent convulsions, hypocalcemia, and hypoparathyroidism related to delayed diagnosis of 22q11.2 deletion syndrome in a middle‐aged man |
| title_sort | recurrent convulsions hypocalcemia and hypoparathyroidism related to delayed diagnosis of 22q11 2 deletion syndrome in a middle aged man |
| topic | Convulsion hypocalcemia hypoparathyroidism 22q11.2 deletion syndrome |
| url | https://doi.org/10.1002/ams2.216 |
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