van den Berge K, Diderich K, Poddighe P, Berghout A
Department of Medicine, Medical Centre Rijnmond Zuid, Rotterdam, the Netherlands.
Neth J Med. 2009 Mar;67(3):102-4.
Congenital hypoparathyroidism usually manifests in early childhood with hypocalcaemia with or without clinical characteristics. This report describes a Caucasian woman who, at the age of 43 years, was diagnosed with dysgenesis of the parathyroid glands due to a de novo microdeletion in chromosome 22q11 or DiGeorge syndrome. This syndrome is characterised by a considerable variability in clinical symptoms, including heart defects, thymic hypoplasia and mental retardation. Our patient presented with generalised convulsions due to extreme, symptomatic hypocalcaemia. The convulsions had been apparent for 18 months at the time of the diagnosis. Remarkably, whereas parathyroid hormone levels were undetectable, the 1,25-dihydroxy vitamin D level was normal. Chromosome 22q11 deletion was confirmed by fluorescence in situ hybridisation analysis.
先天性甲状旁腺功能减退症通常在儿童早期表现为低钙血症，可伴有或不伴有临床特征。本报告描述了一名43岁的白种女性，她因22q11染色体新发微缺失或迪格奥尔格综合征被诊断为甲状旁腺发育不全。该综合征的临床症状差异很大，包括心脏缺陷、胸腺发育不全和智力迟钝。我们的患者因严重的症状性低钙血症出现全身性惊厥。诊断时惊厥已持续18个月。值得注意的是，甲状旁腺激素水平检测不到，而1,25-二羟维生素D水平正常。荧光原位杂交分析证实了22q11染色体缺失。
