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Case of CATCH 22 syndrome complicated with pseudohypoparathyroidism and unilateral renal aplasia

The CATCH 22 acronym (cardiac defects, abnormal faces, thymic hypoplasia, cleft palate and hypocalcemia) outlines the main clinical features of 22q11.2 deletions, usually found in DiGeorge or velo-cardiofacial syndromes.1 A number of clinical symptoms in the CATCH 22 syndrome are due to impairment of embryological neural crest cells and bronchial arch. In patients with CATCH 22 syndrome, hypocalcemia is always secondary to hypoparathyroidism, because impaired neural crest cell migration is believed to influence the generation of the pharyngeal pouch and reduce secretion of parathyroid hormone (PTH) due to insufficient function of the parathyroid glands. Pseudohypoparathyroidism (PHP) is a disorder showing a lack of sensitivity to the biologic actions of PTH; serum concentrations of PTH are high despite hypocalcemia and hyperphosphatemia. We report a 14-year-old Japanese male with hypocalcemia who was diagnosed as having CATCH 22 syndrome. As the results of the laboratory tests showed serum concentrations of PTH were high despite hypocalcemia, the patient was also diagnosed as having PHP. A diagnosis of right renal aplasia was also made on the basis of contrast medium enhanced computed tomography (CT) findings. This is an extremely rare case of CATCH 22 syndrome complicated with PHP and unilateral renal aplasia.