Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A DiGeorge Syndrome with both Basal Ganglia Calcification with 22q11.2 Deletion

  • Kim, Young Han (Department of Pediatrics, Hallym University College of Medicine) ;
  • Choi, Joong Wan (Department of Pediatrics, Hallym University College of Medicine) ;
  • Ryu, Hye Won (Department of Pediatrics, Hallym University College of Medicine) ;
  • Bae, Eun Ju (Department of Pediatrics, Hallym University College of Medicine) ;
  • Oh, Phil Soo (Department of Pediatrics, Hallym University College of Medicine) ;
  • Lee, Hong Jin (Department of Pediatrics, Hallym University College of Medicine)
  • Published : 2014.12.25
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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).

Keywords

References

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