Service d'ElectroNeuroMyographie et Pathologie Neuromusculaire, Hôpital Neurologique et Neurochirurgical Pierre Wertheimer, HCL, 59 Boulevard Pinel, 69677 Lyon, Bron Cedex, France.
J Neurol. 2012 Jan;259(1):39-46. doi: 10.1007/s00415-011-6115-9. Epub 2011 Jun 9.
Triple-A or Allgrove syndrome is a rare multisystem disease classically associated with esophageal achalasia, adrenal insufficiency and alacrima. Here, we describe the poorly understood neurological characteristics often associated with this condition, through the clinical and electrophysiological analysis of eight patients. All patients were genetically confirmed and had a mutation in the ALADIN gene. They all displayed a classical picture of Triple-A syndrome: all suffered from achalasia and alacrima and half of them from adrenal insufficiency. However, all harbored a neurological picture characterized by a recognizable pattern of peripheral neuropathy. Other neurological features included cognitive deficits, pyramidal syndrome, cerebellar dysfunction, dysautonomia, neuro-ophthalmological signs and bulbar and facial symptoms. This neurological picture was prominent in all patients and misled the initial diagnosis in six of them, which had a late onset. We then review the previous neurological reports of this disease, to improve the understanding of this rare condition. Diagnosis of late-onset Triple-A syndrome is difficult when the clinical picture is mainly neurological and when endocrine or gastrointestinal signs are minor. The characteristics of the peripheral neuropathy, among other neurological signs, can be of help.
三 A 综合征或 Allgrove 综合征是一种罕见的多系统疾病，经典表现为食管失弛缓症、肾上腺皮质功能不全和眼干。在此，我们通过对 8 名患者的临床和电生理分析，描述了与这种疾病相关的尚未被充分认识的神经学特征。所有患者均经基因检测证实存在 ALADIN 基因突变。他们均表现出典型的三 A 综合征表现：均患有食管失弛缓症和眼干，一半患者患有肾上腺皮质功能不全。然而，他们都存在一种以可识别的周围神经病表现为特征的神经学表现。其他神经学特征包括认知障碍、锥体束征、小脑功能障碍、自主神经功能障碍、神经眼科征象以及延髓和面部症状。这种神经学表现在所有患者中都很突出，并在其中 6 例患者中误导了初始诊断，这些患者的发病较晚。然后，我们回顾了该病之前的神经学报告，以加深对这种罕见疾病的认识。当临床表现主要为神经学表现且内分泌或胃肠道表现较轻微时，诊断迟发性三 A 综合征较为困难。除其他神经学征象外，周围神经病的特征可能会有所帮助。
