1 - Department of Pediatrics, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, E.P.E.;
2 - Genetic Unit, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, E.P.E.
3 - Endocrinology Unit, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, E.P.E.
- DOI 10.1515/jpem-2012-0348 J Pediatr Endocr Met 2013; aop.
Abstract: 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 <1.0 pg/mL. VCFS was confirmed by fluorescence in situ hybridization study revealing the 22q11.2 deletion. High levels of calcium administration were needed to normalize serum calcium. In this case, signs of hypoparathyroidism only developed in late childhood, and the patient, despite the minor clinical signs of VCFS, remained symptom-free. He presented no cardiac malformations, immunologic abnormalities, or renal dysfunction often associated with this diagnosis. In a child with hypocalcemia, considering the hypothesis of VCFS, even if there are no other manifestations, is important both for clinical diagnosis and management and for genetic counseling.
Keywords: deletion 22q11.2; first seizure; hypocalcemia; hypoparathyroidism; velo-cardio-facial syndrome.