Derrien C, Odent S, Henry C, De La Villemarque R, Poirier J Y, Maugendre D
Unité d'endocrinologie, Département de Médecine de l'adulte, CHU Hôpital Sud, 16, boulevard de Bulgarie, BP 56129, 35056 Rennes Cedex, France.
Ann Endocrinol (Paris). 2001 Dec;62(6):529-33.
We report the case of a 27-year old woman who presented hypocalcemia and hyperphosphoremia during her first pregnancy. Her phenotype was in favor of Albright's hereditary osteodystrophy: short stature, obesity, round face, brachymetacarpy and mental retardation. However, the diagnosis of pseudohypopara thyroidism type Ia was ruled out due to low PTH level (10 pg/ml). The patient's 22q11 microdeletion was suspected and identified because of the association of severe neonatal hypocalcemia, abnormal face and renal malformation in her children. Deletion 22q11 leads to various syndromes, including Di George syndrome, also referred to as CATCH 22 syndrome (Cardiac defect (C), Abnormal face (A), Thymic hypoplasia (T), Cleft palate (C) and Hypocalcemia (H)). Retrospectively, the patient presented with symptoms suggestive of CATCH 22: abnormal face, hypernasal voice suggestive of velopharyngeal insufficiency, mental retardation, recurrent otitis in childhood. It is also noteworthy that there was an idiopathic thrombocytopenic purpura. In conclusion, while the phenotype was suggestive of Albright's hereditary osteodystrophy, the constatation of a low PTH level would cast doubt on this diagnosis. Furthermore, the 22q11 microdeletion should be searched by FISH (Fluorescence In Situ Hybridization) in all patients with hypopara thyroidism of unknown origin, even in the absence of cardiac malformations. Finally, it seems that patients with CATCH 22 would be predisposed to auto-immune disease as a result of thymic dysfunction.
我们报告了一例27岁女性病例，该患者在首次怀孕期间出现低钙血症和高磷血症。她的表型符合奥尔布赖特遗传性骨营养不良：身材矮小、肥胖、圆脸、掌骨短和智力发育迟缓。然而，由于甲状旁腺激素水平较低（10 pg/ml），排除了I型假性甲状旁腺功能减退症的诊断。由于该患者的子女存在严重新生儿低钙血症、面部异常和肾脏畸形，怀疑并确定了其22号染色体长臂11区微缺失。22q11缺失会导致多种综合征，包括迪格奥尔格综合征，也称为CATCH 22综合征（心脏缺陷（C）、面部异常（A）、胸腺发育不全（T）、腭裂（C）和低钙血症（H））。回顾性分析，该患者表现出提示CATCH 22的症状：面部异常、提示腭咽闭合不全的高鼻音、智力发育迟缓、儿童期反复中耳炎。还值得注意的是，患者存在特发性血小板减少性紫癜。总之，虽然表型提示奥尔布赖特遗传性骨营养不良，但甲状旁腺激素水平较低这一情况会对该诊断产生怀疑。此外，对于所有不明原因甲状旁腺功能减退的患者，即使没有心脏畸形，也应通过荧光原位杂交（FISH）检测22q11微缺失。最后，似乎患有CATCH 22的患者由于胸腺功能障碍易患自身免疫性疾病。
