Open AccessA 32‐year‐old Woman Diagnosed with 22q11.2 Deletion Syndrome and Complicated by Hypothyroidism
Author(s) -
Sasaki Yosuke,
Obara Haruo,
Shimabukuro Akira
Publication year - 2014
Publication title -
general medicine
Language(s) - English
Resource type - Journals
eISSN - 1883-6011
pISSN - 1346-0072
DOI - 10.14442/general.15.72
Subject(s) - facial dysmorphism , pathognomonic , hypoparathyroidism , medicine , short stature , pediatrics , hypertelorism , deletion syndrome , digeorge syndrome , surgery , disease , psychiatry , anatomy , biochemistry , chemistry , gene , phenotype
22q11.2 deletion syndrome (22qDS) resulting from a microdeletion of 22q11.2, is usually diagnosed in the postnatal period, and generally manifests as various combinations of cardiac defects, hypoparathyroidism, facial dysmorphism, palate deformity and cellular immunodeficiency. We report a case of a 32‐year‐old woman presenting with seizures and hypocalcemia, who was diagnosed with 22qDS, along with a literature review of adult cases. Physicians should recognize the 22qDS in adults presenting with any combinations of hypocalcemia, hypothyroidism, cardiac defects and psychiatric disorders. Pathognomonic facial dysmorphism or short stature can be the key to diagnosis.