■遗传性感觉和自主神经神经病(HSANs)是一组异质性遗传疾病,主要表现为感觉和自主神经功能障碍。它们是一组不同的外周神经系统疾病,其特征是严重的远端感觉丧失以及各种自主神经和运动障碍。
■本研究的主要目的是向儿科医生描述HSAS患儿的临床表现。我们介绍了在加拿大三级儿科中心随访的HSN患者的临床特征和遗传病因,包括监测的建议,管理,和长期随访。
■对从2000年到2021年的所有HSN患者进行回顾性图表回顾。收集的数据包括患者的人口统计学,临床特征,成像,和管理。
■纳入8例患者。诊断时的平均年龄为3.19±2.83岁。对疼痛不敏感(100%)自主神经失调(100%),全球发展延迟(87.5%),呕吐(62.5%),自我损伤(62.5%)是HSN最常见的表现。最常见的合并症是胃食管反流病(50%),阻塞性睡眠呼吸暂停(37.5%),注意缺陷多动障碍(37.5%),缺铁(37.5%)。管理是多学科的,涉及神经学家,矫形器,发育儿科医生,睡眠专家,还有精神病医生.
■HSANs是一类多样化的疾病,以深度远端感觉丧失为特征,肢端残缺,和可变的自主神经紊乱。重要的是要认识到诊断在儿科医生的办公室,以建立监测和预防并发症。
UNASSIGNED: Hereditary sensory and autonomic neuropathies (HSANs) are a group of heterogeneous genetic disorders presenting predominantly with sensory and autonomic dysfunction. They are a diverse group of diseases of the peripheral nervous system characterized by profound distal sensory loss and various autonomic and motor disturbances.
UNASSIGNED: The primary objective of this study was to describe the clinical presentation of children with HSAN to paediatricians. We present clinical features and genetic etiology of patients with HSAN followed in a Canadian tertiary paediatric centre, including suggestions for their monitoring, management, and long-term follow-up.
UNASSIGNED: A retrospective chart review of all patients with HSAN followed from the years 2000 through 2021 was performed. Collected data consisted of patients\' demographics, clinical characteristics, imaging, and management.
UNASSIGNED: Eight patients were included. The average age at diagnosis was 3.19 ± 2.83 years. Insensitivity to pain (100%), dysautonomia (100%), global development delay (87.5%), emesis (62.5%), and self-injury (62.5%) were the most prevalent manifestations of HSAN. The most common co-morbidities were gastroesophageal reflux disease (50%), obstructive sleep apnea (37.5%), attention-deficit hyperactivity disorder (37.5%), and iron deficiency (37.5%). Management was multi-disciplinary, involving neurologists, orthopeds, developmental paediatricians, sleep specialists, and psychiatrists.
UNASSIGNED: HSANs are a diverse group of diseases, characterized by profound distal sensory loss, acral mutilations, and variable autonomic disturbances. It is important to recognize the diagnosis in the paediatrician\'s office in order to set up surveillance and prevent complications.