We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoat hetosis,a condition characterized by brief episodes of spasms precipitated by s udden movement.However,subsequent testing showed hypocalce...We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoat hetosis,a condition characterized by brief episodes of spasms precipitated by s udden movement.However,subsequent testing showed hypocalcemia,hyperphosphatemi a,and elevated parathyroid hormone levels consistent with pseudohypoparathyroid ism type Ib.This diagnosis was confirmed by genetic testing,which identified a 3-kilobase deletion on chromosome 20q13.3.Our report describes the neurologic presentation,metabolic derangement,and underlying genetic mutation in a famil y.It also reinforces the importance of metabolic testing in the evaluation of p ediatric patients with movement disorders.展开更多
文摘We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoat hetosis,a condition characterized by brief episodes of spasms precipitated by s udden movement.However,subsequent testing showed hypocalcemia,hyperphosphatemi a,and elevated parathyroid hormone levels consistent with pseudohypoparathyroid ism type Ib.This diagnosis was confirmed by genetic testing,which identified a 3-kilobase deletion on chromosome 20q13.3.Our report describes the neurologic presentation,metabolic derangement,and underlying genetic mutation in a famil y.It also reinforces the importance of metabolic testing in the evaluation of p ediatric patients with movement disorders.
