Endocrine Abstracts

Background: DiGeorge syndrome also known as Velo-Cardio-Facial syndrome is associated with microdeletion at chromosome 22q11.2. Its main features include dysmorphia, hypoparathyroidism, hypocalcemia, hypoplasia or aplasia of the thymus, cardiac anomalies, renal anomalies, and behavioral/ psychiatric issues. This incurable syndrome could be treated for its complications to increase the quality of life. We present a case report of 41-year-old male with background of learning disability who presented with recurrent hypocalcemia secondary to hypoparathyroidism and was diagnosed with DiGeorge syndrome.

Case summary: A 41-year-old male was referred due to recurrent hypocalcemia, during recurrent presentations to hospital he was treated for pseudo-obstruction of small bowel, long QT syndrome and hypocalcemia secondary to hypoparathyroidism. Bone density scan was normal. Echocardiogram showed preserved left ventricular systolic dysfunction. On examination he had BMI of 39.5, plethoric complexion, short neck, short stature, coarse facial features, high arched palate and enamel hypoplasia. He had no goiter and Chvostek’s sign was negative. He was born 4 weeks early but did not require any prolonged admission or special care. However, he had childhood history of tetanic spasms of hands which resolved with calcium supplements and also had known diagnosis of dyspraxia and learning disability. To find out cause of hypoparathyroidism microarray genetic testing was requested and diagnosis of DiGeorge syndrome was confirmed. Calcium substitution was initiated appropriately.

Discussion: An atypical disease course may delay the diagnosis and appropriate management of affected patients. In this case, confirmation of the diagnosis allowed the initiation of appropriate treatment and reducing the risk for further events. This case report demonstrates that DiGeorge syndrome should be considered as a differential diagnosis while investigating hypocalcemia and hypoparathyroidism in adulthood as this syndrome has very important implications on patient’s health and future family planning.