Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging from mild infantile hypotonia, movement disorders to early infantile severe encephalopathy. Neuroimaging has been reported as non-specific. We systematically analyzed brain MRIs in order to characterize and better understand neuroimaging changes and to re-evaluate the diagnostic role of brain MRI in iMNDs. 81 MRIs of 70 patients (0.1-52.9 years, 39 patients with tetrahydrobiopterin deficiencies, 31 with primary disorders of monoamine metabolism) were retrospectively analyzed and clinical records reviewed. 33/70 patients had MRI changes, most commonly atrophy (n = 24). Eight patients, six with dihydropteridine reductase deficiency (DHPR), had a common pattern of bilateral parieto-occipital and to a lesser extent frontal and/or cerebellar changes in arterial watershed zones. Two patients imaged after acute severe encephalopathy had signs of profound hypoxic-ischemic injury and a combination of deep gray matter and watershed injury (aromatic l-amino acid decarboxylase (AADCD), tyrosine hydroxylase deficiency (THD)). Four patients had myelination delay (AADCD; THD); two had changes characteristic of post-infantile onset neuronal disease (AADCD, monoamine oxidase A deficiency), and nine T2-hyperintensity of central tegmental tracts. iMNDs are associated with MRI patterns consistent with chronic effects of a neuronal disorder and signs of repetitive injury to cerebral and cerebellar watershed areas, in particular in DHPRD. These will be helpful in the (neuroradiological) differential diagnosis of children with unknown disorders and monitoring of iMNDs. We hypothesize that deficiency of catecholamines and/or tetrahydrobiopterin increase the incidence of and the CNS susceptibility to vascular dysfunction.

中文翻译：

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单胺类神经递质遗传性疾病的脑 MR 模式：对 70 名患者的分析

遗传性单胺类神经递质疾病 (iMNDs) 是一种罕见的疾病，其临床表现范围从轻度婴儿肌张力减退、运动障碍到早期婴儿重度脑病。据报道，神经影像学是非特异性的。我们系统地分析了脑 MRI，以表征和更好地了解神经影像学变化，并重新评估脑 MRI 在 iMND 中的诊断作用。回顾性分析了 70 名患者（0.1-52.9 岁，39 名四氢生物蝶呤缺乏症，31 名原发性单胺代谢紊乱患者）的 81 次 MRI，并回顾了临床记录。33/70 名患者出现 MRI 变化，最常见的是萎缩（n = 24）。八名患者，六名患有二氢蝶啶还原酶缺乏症（DHPR），具有双侧顶枕部的共同模式，以及在较小程度上在动脉分水岭区的额叶和/或小脑变化。两名在急性重度脑病后成像的患者有严重的缺氧缺血性损伤以及深部灰质和分水岭损伤（芳香l-氨基酸脱羧酶（AADCD），酪氨酸羟化酶缺乏（THD））。4名患者出现髓鞘形成延迟（AADCD；THD）；两个具有婴儿发病后神经元疾病的特征变化（AADCD，单胺氧化酶 A 缺乏症），以及 9 个中央被盖束的 T2 高信号。iMND 与 MRI 模式相关，这些模式与神经元疾病的慢性影响以及大脑和小脑分水岭区域重复性损伤的迹象一致，特别是在 DHPRD 中。这些将有助于对患有未知疾病的儿童进行（神经放射学）鉴别诊断和监测 iMND。我们假设儿茶酚胺和/或四氢生物蝶呤的缺乏会增加血管功能障碍的发生率和 CNS 易感性。