Wirth M, Bonnemains C, Auger J, Raffo E, Leheup B
Pôle enfant, service de médecine infantile et génétique clinique, centre hospitalier universitaire, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.
Pôle enfant, service de médecine infantile et génétique clinique, centre hospitalier universitaire, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France; Pôle enfant, centre de référence des maladies héréditaires du métabolisme, centre hospitalier universitaire, rue du Morvan, 54500 Vandœuvre-lès-Nancy, France.
Arch Pediatr. 2016 Feb;23(2):159-62. doi: 10.1016/j.arcped.2015.11.006. Epub 2015 Dec 14.
Sandifer's syndrome is a dystonic movement disorder in infants with gastroesophageal reflux (GER). It is probably misdiagnosed as epileptic seizures. We report the case of a 5-month-old infant with no past medical history admitted to a pediatric unit for suspicion of infantile spasms. She presented with dystonic movements of the upper left limb with left blepharospasm and an occasional dystonic head posture. Physical examination, EEG, brain MRI, and blood analysis were normal. Since the baby experienced regurgitations, Sandifer's syndrome was suspected and confirmed by 24-h esophageal pH monitoring that documented pathological GER. The dystonic symptoms quickly disappeared under treatment with thickened infant formula and sodium alginate. Infantile spasms remain the first diagnosis to explore with axial or para-axial dystonic postural events. Sandifer's syndrome should be retained when neurological investigations are normal and abnormal movements disappear under treatment of proven GER. Prognosis is excellent.
桑迪弗综合征是一种发生于患有胃食管反流(GER)的婴儿的张力障碍性运动障碍。它很可能被误诊为癫痫发作。我们报告一例5个月大、无既往病史的婴儿,因疑似婴儿痉挛症入住儿科病房。她表现为左上肢体张力障碍性运动伴左侧眼睑痉挛以及偶尔出现的张力障碍性头部姿势。体格检查、脑电图、脑部磁共振成像和血液分析均正常。由于该婴儿有反流情况,怀疑为桑迪弗综合征,并通过24小时食管pH监测得以证实,该监测记录到病理性胃食管反流。在使用增稠婴儿配方奶粉和海藻酸钠治疗后,张力障碍症状迅速消失。对于轴向或旁轴性张力障碍姿势性事件,婴儿痉挛症仍是首先需要排查的诊断。当神经学检查正常且经证实的胃食管反流治疗后异常运动消失时,应考虑桑迪弗综合征。预后良好。