First seizure as late presentation of velo-cardio-facial syndrome

First seizure as late presentation of velo-cardio-facial syndrome

Congenital hypoparathyroidism caused by velo-cardio-facial syndrome (VCFS) typically presents with hypocalcemia in the neonatal period associated with other characteristic findings. We report the case of an 8-year-old boy presenting a hypocalcemic seizure (ionized calcium, 0.65 mM); he had a history...

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Veröffentlicht in:Journal of Pediatric Endocrinology and Metabolism 2013, Vol.26 (3-4), p.381-383
Hauptverfasser: Simão, Inês, Lourenço, Teresa, Lopes, Lurdes, Ramos, Margarida Paula
Format: Artikel
Sprache:eng
Schlagworte:
Age of Onset
Child
DiGeorge Syndrome - complications
DiGeorge Syndrome - diagnosis
Epilepsy - diagnosis
Epilepsy - etiology
Facies
Humans
Hypocalcemia - diagnosis
Hypocalcemia - etiology
Hypoparathyroidism - congenital
Hypoparathyroidism - diagnosis
Hypoparathyroidism - etiology
Male
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Zusammenfassung:Congenital hypoparathyroidism caused by velo-cardio-facial syndrome (VCFS) typically presents with hypocalcemia in the neonatal period associated with other characteristic findings. We report the case of an 8-year-old boy presenting a hypocalcemic seizure (ionized calcium, 0.65 mM); he had a history of velopharyngeal insufficiency and late development with language impairment; at presentation, minor dysmorphic features were noticed. Laboratory evaluation revealed a parathormone level of
ISSN:0334-018X
2191-0251
DOI:10.1515/jpem-2012-0348