A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman
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CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prev-alence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hy-pocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who re-ferred to mental change due to hypocalcemia and is diagnosed CATCH22. She was pre-sented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.
Abstract
CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prev-alence estimated at 1:3,000-1:9,000. Most deletions occurs sporadic, but autosomal dominant inheritance observed in 6-10% of cases. CATCH22 often diagnosed due to hy-pocalcemia during neonatal period or decreased immunity or facial defect, so it is very rare being diagnosed CATCH22 in adulthood. We report a 57 year old female who re-ferred to mental change due to hypocalcemia and is diagnosed CATCH22. She was pre-sented with hypoparathyroidism, single kidney due to renal agenesis, and mild facial defect. Our patient responded well to calcium and vitamin D treatment and she is on follow-up in outpatient clinic.
참고문헌 (9)
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