Ebrahimi-Fakhari Darius, Hildebrandt Clara, Davis Peter E, Rodan Lance H, Anselm Irina, Bodamer Olaf
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Division of General Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Mov Disord Clin Pract. 2018 Mar-Apr;5(2):149-155. doi: 10.1002/mdc3.12573. Epub 2017 Dec 10.
Movement disorders are a significant clinical problem in lysosomal storage diseases (LSD) and account for substantial morbidity. The spectrum of movement disorders in childhood-onset LSD, however, remains poorly defined.
To define the spectrum of movement disorders in a well-characterized cohort of children with LSD.
A retrospective chart review at a single tertiary care center (Boston Children's Hospital, Boston, MA, USA). Patients up to the age of 18 years with a clinical, genetic and/or biochemical diagnosis of an LSD and at least one predefined movement disorder (parkinsonism, dystonia, ataxia, tremor, chorea, myoclonus, ballism, restless leg syndrome) were included.
96 patients were identified and 76 patients had a sufficiently document biochemical and/or genetic diagnosis. Of these, 18 patients met inclusion criteria (mean age: 10.3±5.8 (SD) years, range: 3-18 years; 72% male). The most common LSD associated with a movement disorder was Niemann-Pick disease type C (NPC), followed by several types of neuronal ceroid lipofuscinosis (NCL) and different mucopolysaccharidoses. The most common movement disorder was ataxia followed by rest tremor, dystonia and myoclonus. The other predefined movement disorders were rare. The majority of patients presented with more than one movement disorder. The movement disorder was slowly progressive in all patients. Brain MRI changes included diffuse cerebral volume loss, white matter abnormalities with thinning of the corpus callosum, and cerebellar atrophy.
Movement disorders develop in a significant number of LSD patients. Ataxia, often in patients with NPC and NCL, is the most common phenotype but significant heterogeneity exists within and between different LSD.
运动障碍是溶酶体贮积病（LSD）中的一个重要临床问题，导致相当高的发病率。然而，儿童期起病的LSD中运动障碍的范围仍未明确界定。
明确一组特征明确的LSD患儿的运动障碍范围。
在美国马萨诸塞州波士顿市波士顿儿童医院这一单一三级医疗中心进行回顾性病历审查。纳入18岁及以下、经临床、基因和/或生化诊断为LSD且至少有一种预定义运动障碍（帕金森症、肌张力障碍、共济失调、震颤、舞蹈症、肌阵挛、投掷症、不宁腿综合征）的患者。
共识别出96例患者，其中76例有充分记录的生化和/或基因诊断。其中，18例符合纳入标准（平均年龄：10.3±5.8（标准差）岁，范围：3 - 18岁；72%为男性）。与运动障碍相关的最常见LSD是C型尼曼 - 匹克病（NPC），其次是几种类型的神经元蜡样脂褐质沉积症（NCL）和不同的黏多糖贮积症。最常见的运动障碍是共济失调，其次是静止性震颤、肌张力障碍和肌阵挛。其他预定义运动障碍较少见。大多数患者出现不止一种运动障碍。所有患者的运动障碍均呈缓慢进展。脑部MRI改变包括弥漫性脑容量减少、白质异常伴胼胝体变薄以及小脑萎缩。
大量LSD患者会出现运动障碍。共济失调，常见于NPC和NCL患者，是最常见的表型，但不同LSD内部和之间存在显著异质性。
