Two cases of chromosome 22q11.2 deletion syndrome diagnosed in 12-year-old boys with siezures
- 이지혜(의과대학 컴퓨터의학)
- Jun 17, 2022
- 1 min read
Abstract
Chromosome 22q11.2 deletion syndrome is the most common interstitial deletion syndrome. Major clinical manifestation includes hypocalcemia secondary to hypoparathyroidim. At least 10% of the patients with this syndrome had hypocalcemic seizures which are generally improved over the first year of life because of the increase of parathyroid gland hypertrophy and dietary calcium intake. We present two cases of this syndrome diagnosed in 12-year-old boys with new onset hypocalcemic seizures. This case report hopes to call attention to this syndrome as a potential cause of hypocalcemic seizures even after the neonatal period. Furthermore, our first patient showed inheritance from a paternal deletion which is not as common as maternal deletions. This is the first case report of hypocalcemic seizure with a paternally inherited 22q11.2 deletion in Korea.
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