J Bone Metab.  2013 May;20(1):57-60. 10.11005/jbm.2013.20.1.57.

A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman

• Lee SK
• Lee MJ
• Lee HJ
• Kim BK
• Sohn YB
• Chung YS

• KMID: 2286315
• DOI: http://doi.org/10.11005/jbm.2013.20.1.57

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 prevalence 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 hypocalcemia 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 referred to mental change due to hypocalcemia and is diagnosed CATCH22. She was presented 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.

Keyword

Hypocalcemia; Hypoparathyroidism; DiGeorge Syndrome

MeSH Terms

Ambulatory Care Facilities
Calcium
Congenital Abnormalities
DiGeorge Syndrome
Female
Follow-Up Studies
Humans
Hypocalcemia
Hypoparathyroidism
Kidney
Kidney Diseases
Prevalence
Vitamin D
Wills
Calcium
Congenital Abnormalities
Kidney
Kidney Diseases
Vitamin D

Figure

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  Fig. 1 Abdominal computed tomography scan shows non-visualization of left kidney and normal position of the right kidney. No associated other genitourinary anomaly.

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  Fig. 2 Fluorescence in situ hybridization analysis. Red spot is TUPLE1 gene probe (DiGeorge/velo-cardio-facial syndrome region of chromosome 22q11.2) and green spot is ARSA control region (22q13.3) probe. Red spot is visible only in one of chromosomes number 22.

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