18p缺失综合征中的运动障碍谱
Spectrum of Movement Disorders in 18p Deletion Syndrome.
作者信息
Crosiers David, Blaumeiser Bettina, Van Goethem Gert
机构信息
Department of Neurology Antwerp University Hospital Antwerp Belgium.
Center for Molecular Neurology, VIB Antwerp Belgium.
出版信息
Mov Disord Clin Pract. 2018 Dec 6;6(1):70-73. doi: 10.1002/mdc3.12707. eCollection 2019 Jan.
BACKGROUND
Deletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders.
METHODS
The 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome-wide single-nucleotide polymorphism array. We have performed a literature search and summarized all previously reported patients with 18p deletion syndrome and movement disorders.
RESULTS
We present a 41-year-old male patient with childhood-onset generalized dystonia. Dystonia is the most prevalent movement disorder in 18p deletion patients, with onset ranging from childhood to adulthood. Chorea, myoclonus, tremor, tics, and ataxia have been reported in a minority of these patients.
CONCLUSION
Dystonia is commonly observed in 18p deletion syndrome. The variable size of the deletion on 18p is probably responsible for the broad phenotypic variability of movement disorders in this syndrome.
背景
18号染色体短臂缺失导致18p缺失综合征。临床特征包括身材矮小、面部畸形、智力发育迟缓以及几种类型的运动障碍。
方法
我们通过核型分析诊断了该患者的18p缺失综合征，并通过全基因组单核苷酸多态性阵列进行了确认。我们进行了文献检索并总结了所有先前报道的患有18p缺失综合征和运动障碍的患者。
结果
我们报告了一名41岁的男性患者，其儿童期起病的全身性肌张力障碍。肌张力障碍是18p缺失患者中最常见的运动障碍，发病年龄从儿童期到成年期不等。少数此类患者还报告有舞蹈症、肌阵挛、震颤、抽动和共济失调。
结论
18p缺失综合征中常见肌张力障碍。18p上缺失片段大小的变化可能是该综合征运动障碍广泛表型变异的原因。
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