All issues > Volume 47(7); 2004

Case Report

Korean J Pediatr. 2004;47(7):794-798. Published online July 15, 2004.

A Case of CATCH22 Syndrome with First Attack of Hypocalcemic Seizure at 13 Years of Age

Young Won YW An¹, Mi Jin MJ Jung¹, Jee Suk JS Yu¹, Young Seok YS Lee², Han Wook HW 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

Correspondence Jee Suk JS Yu ,Email: dryujs@dankook.ac.kr

Abstract

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.

Keywords :CATCH22 syndrome, 22q11.2 deletion syndrome, Hypocalcemia