| A Case of CATCH22 Syndrome with First Attack of Hypocalcemic Seizure at 13 Years of Age |
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Young Won An1, Mi Jin Jung1, Jee Suk Yu1, Young Seok Lee2, Han Wook Yoo3 |
1Department of Pediatrics, College of Medicine, Dankook University, Cheonan, Korea
2Department of Diagnostic Radiology, College of Medicine, Dankook University, Cheonan, Korea
3Department of Pediatrics, Medical Genetics Clinic & Laboratory, Asan Medical Center, Seoul, Korea |
| 13세에 처음 저칼슘혈증에 의한 경련을 보인 CATCH22 증후군 1례 |
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안영원1, 정미진1, 유지숙1, 이영석2, 유한욱3 |
1단국대학교 의과대학 소아과학교실
2단국대학교 의과대학 진단방사선과학교실
3서울아산병원 소아과 의학유전학 클리닉 및 검사실 |
Correspondence:
Jee Suk Yu, Email: dryujs@dankook.ac.kr
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| Abstract |
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The acronym 'CATCH22' is characterized by many clinical manifestations such as cardiac defects, abnormal face, thymic and parathyroid hypoplasia, cleft palate and hypocalcaemia. It is now known to arise from chromosome 22q11.2 microdeletion, and it is also called 22q11.2 deletion syndrome. Hypocalcemia occurs in more than 50% cases of this syndrome, most frequently in neonatal periods, with some exceptions. Our patient was not diagnosed until age 13, although he had a cleft palate and presented with nasal speech and learning disturbances. He had no clinical manifestations of hypocalcemia until age 13, when he developed generalized tonic-clonic convulsions several times in that year. Laboratory tests showed hypocalcemia, hyperphosphatemia, with normo-to-low parathyroid hormone levels in the serum. Chromosome analysis with FISH revealed a deletion on the proximal portion of the long arm of chromosome 22(22q11.2). The authors herein report a case of CATCH22 syndrome who showed hypocalcemic convulsions in late childhood with a review of the literature. |
| Key Words:
CATCH22 syndrome, 22q11.2 deletion syndrome, Hypocalcemia |
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