X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

ABSTRACT Objective: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. Methods: Specific data related to epidemiology, phenotype, diagnosis and treatment of 24 patients with X-linked adrenoleukodystrophy were collected. A qualitative cross-sectional and descriptive-exploratory analysis was performed using medical records from a reference center in Neuropediatrics in Curitiba, Brazil, as well as an electronic questionnaire. Results: The majority (79%) of patients had cerebral demyelinating inflammatory adrenoleukodystrophy, presenting aphasia, hyperactivity and vision disorders as the main initial symptoms. These symptoms appeared, on average, between six and seven years of age. There was a mean delay of 11 months between the onset of symptoms/signs and the diagnosis. Patients sought diagnosis mainly with neuropediatricians, and the main requested tests were dosage of very long chain fatty acids and brain magnetic resonance. Conclusions: All phenotypes of X-linked adrenoleukodystrophy, except for myelopathy in women, were presented in the studied population, which mainly consisted of children and adolescents. Prevalent signs and symptoms registered in the literature were observed. Most of the patients with cerebral demyelinating inflammatory adrenoleukodystrophy were not diagnosed in time for hematopoietic stem cell transplantation.

摘要：
研究目的：描述X连锁肾上腺脑白质营养不良（X-linked adrenoleukodystrophy）的四类表型：症状前型、脑脱髓鞘炎性肾上腺脑白质营养不良、肾上腺脊髓神经病以及单纯肾上腺功能不全型。
方法：本研究收集了24例X连锁肾上腺脑白质营养不良患者的流行病学特征、表型、诊断及治疗相关的特异性数据。研究依托巴西库里提巴市神经儿科参考中心的病历资料结合电子问卷，开展定性横断面研究与描述性探索性分析。
结果：本研究中79%的患者为脑脱髓鞘炎性肾上腺脑白质营养不良，其主要初始临床表现为失语、多动及视力障碍。该类症状的平均起病年龄为6~7岁。从症状/体征出现至确诊的平均延迟时长为11个月。患者主要就诊于神经儿科医师，临床送检的主要检查项目为极长链脂肪酸检测与颅脑磁共振检查。
结论：本研究纳入的人群以儿童及青少年为主，涵盖了X连锁肾上腺脑白质营养不良的所有表型（女性脊髓病表型除外）。研究观察到了文献中记载的常见临床体征与症状。多数脑脱髓鞘炎性肾上腺脑白质营养不良患者未能在造血干细胞移植（hematopoietic stem cell transplantation）的适宜时机前获得及时诊断。