Weiman Daniel I, Gillespie Meredith K, Hartley Taila, Osmond Matthew, Ito Yoko, Boycott Kym M, Kernohan Kristin D, Lines Matthew, McMillan Hugh J
University of Ottawa, Ottawa, ON, Canada.
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
Child Neurol Open. 2021 Oct 4;8:2329048X211031059. doi: 10.1177/2329048X211031059. eCollection 2021 Jan-Dec.
Allgrove or "Triple A" syndrome is characterized by alacrima, achalasia, and adrenocorticotropic hormone-resistant adrenal insufficiency, as well as central and peripheral nervous system involvement. Patients demonstrate heterogeneity with regard to their age of symptom onset, disease severity, and nature of clinical symptoms. Neurophysiological testing has also shown variability ranging from: motor neuron disease with prominent bulbar involvement, motor-predominant neuropathy, or sensorimotor polyneuropathy with axonal or mixed axonal and demyelinating features. We report an 11-year-old boy who presented with neurological symptoms of progressive spasticity and peripheral neuropathy. His neurophysiological testing confirmed a sensorimotor polyneuropathy with axonal and demyelinating features. Exome sequencing identified compound heterozygote variants in the gene. We summarize the neurophysiological findings in him and 29 other patients with Allgrove syndrome where nerve conduction study findings were available thereby providing a review of the heterogeneity in neurophysiological findings that have been reported in this rare disorder.
奥尔格罗夫综合征或“三 A”综合征的特征为无泪、贲门失弛缓症、促肾上腺皮质激素抵抗性肾上腺功能不全，以及中枢和周围神经系统受累。患者在症状出现年龄、疾病严重程度和临床症状性质方面表现出异质性。神经生理学检测也显示出变异性，范围包括：以延髓受累为主的运动神经元病、以运动为主的神经病，或具有轴索性或轴索与脱髓鞘混合特征的感觉运动性多神经病。我们报告一名11岁男孩，他出现进行性痉挛和周围神经病变的神经症状。他的神经生理学检测证实为具有轴索和脱髓鞘特征的感觉运动性多神经病。外显子组测序在该基因中鉴定出复合杂合子变异。我们总结了他以及其他29例有神经传导研究结果的奥尔格罗夫综合征患者的神经生理学发现，从而对这种罕见疾病中已报道的神经生理学发现的异质性进行综述。
