Eryılmaz Sema Kabataş, Baş Firdevs, Satan Ali, Darendeliler Feyza, Bundak Rüveyde, Günöz Hülya, Saka Nurçin
İstanbul University, İstanbul Faculty of Medicine, Department of Pediatrics, Pediatric Endocrinology Unit, İstanbul, Turkey.
J Clin Res Pediatr Endocrinol. 2009;1(3):151-4. doi: 10.4008/jcrpe.v1i3.46. Epub 2009 Feb 6.
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.
22q11缺失是最常见的遗传综合征之一。其表型谱具有广泛的变异性。我们报告一名11.9岁男孩，因甲状旁腺功能减退导致低钙血症而出现癫痫发作。荧光原位杂交（FISH）分析显示22q11.2处杂合子缺失。该综合征的阳性表现包括由于腭面部功能障碍导致的语言发育迟缓、幼儿期因潜在低钙血症引起的反复喉炎发作以及轻度畸形特征。该患者的发现表明，22q11缺失综合征可能有广泛的临床表现，即使在出现低钙血症的老年患者中也需要考虑这一诊断。
