|
KMID : 0918520140140020163
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2014 Volume.14 No. 2 p.163 ~ p.167
|
|
|
A DiGeorge Syndrome with both Basal Ganglia Calcification with 22q11.2 Deletion
|
|
Kim Young-Han
Choi Joong-Wan
Ryu Hye-Won
Bae Eun-Ju
Oh Phil-Soo
Lee Hong-Jin
|
|
|
Abstract
|
|
|
|
DiGeorge syndrome is a disorder caused by microdeletion in chromosome 22q11.2 with various abnormalities including cardiac anomaly, facial dysmorphism, thymic and parathyroid hypoplasia, cleft palate and immune dysfunction. The frequency of hypocalcemia caused by hypoparathyroidism is known to be approximately 60% of DiGeorge syndrome. It is known that the disorder mostly occurs in the neonatal period and the symptoms are improved afterwards. Herein we report a case of DiGeorge syndrome only accompanied by hypocalcemia caused by hypoparathyroidism without other abnormalities. She was first diagnosed only at the age of 22 with basal ganglia calcification that had been discovered in brain CT (Computed tomography).
|
|
|
KEYWORD
|
|
|
DiGeorge syndrome, 22q11.2 Microdeletion, Hypocalcemia, Hypoparathyroidism, Basal ganglia calcification
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|