Published online January 3, 2005
PEDIATRICS Vol. 115 No. 2 February 2005, pp. e242-e244 (doi:10.1542/peds.2004-1878)
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ELECTRONIC ARTICLE

Molecular Diagnosis of Pseudohypoparathyroidism Type Ib in a Family With Presumed Paroxysmal Dyskinesia

Farid H. Mahmud, MD*, Agnès Linglart, MD{ddagger}, Murat Bastepe, MD, PhD{ddagger}, Harald Jüppner, MD{ddagger} and Aida N. Lteif, MD*

* Department of Pediatric Endocrinology and Metabolism, Mayo Clinic, Rochester, Minnesota
{ddagger} Endocrine and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts

We describe 2 sisters diagnosed initially with paroxysmal kinesigenic choreoathetosis, a condition characterized by brief episodes of spasms precipitated by sudden movement. However, subsequent testing showed hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone levels consistent with pseudohypoparathyroidism 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 family. It also reinforces the importance of metabolic testing in the evaluation of pediatric patients with movement disorders.

Key Words: pseudohypoparathyroidism type Ib • paroxysmal dyskinesia • genetics (molecular)

Abbreviations: PHP, pseudohypoparathyroidism • PTH, parathyroid hormone • AHO, Albright's hereditary osteodystrophy • AD-PHP-Ib, autosomal dominant form of pseudohypoparathyroidism type Ib • PKC, paroxysmal kinesigenic choreoathetosis • Gs{alpha}, {alpha} subunit of the stimulatory G protein

Accepted Sep 22, 2004.




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