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A Patient with 22q11.2 Deletion Syndrome: Case Report

Sciprofile linkSema Kabataş Eryılmaz, Firdevs Baş, Ali Satan, Feyza Darendeliler, Rüveyde Bundak, Hülya Günöz, Nurçin Saka
Journal of Clinical Research in Pediatric Endocrinology , Volume 1, pp 151-154; doi:10.4008/jcrpe.v1i3.46

Abstract: 22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.
Keywords: hypocalcemia / 22q11.2 deletion syndrome / Hypoparathyroidism

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