ACTB相关肌张力障碍-耳聋综合征的功能影像学相关性：一例病例报告

文献信息

中文摘要

肌张力障碍-耳聋综合征（DDS）是一种罕见的神经遗传性疾病，表现为先天性感音神经性听力损失和与ACTB突变相关的进行性肌张力障碍。一名22岁男性，患有先天性耳聋和言语障碍，青少年期起病出现震颤，逐渐进展为全身性肌张力障碍、头部摇晃和步态障碍。脑磁共振成像未见异常。氟脱氧葡萄糖-正电子发射断层扫描显示基底节代谢减低，在锝-99m标记的TRODAT-1单光子发射计算机断层扫描（TRODAT SPECT）成像中，右侧壳核和尾状核摄取严重减少。鉴定出ACTB基因的杂合致病性错义变异（c.547C>T；p.Arg183Trp），并伴有VPS16的额外杂合变异（c.1612C>A；p.Leu538Met）。ACTB变异解释了DDS的核心特征，而共存的VPS16变异则代表临床意义不确定的额外发现。本病例突出了ACTB相关DDS的功能影像学异常，并强调了多模态成像在评估遗传学确诊的复杂肌张力障碍中的价值。

英文摘要

Dystonia-deafness syndrome (DDS) is a rare neurogenetic disorder with congenital sensorineural hearing loss and progressive dystonia linked to ACTB mutations. A 22-year-old man with congenital deafness and speech impairment presented with adolescent-onset tremors evolving to generalized dystonia, titubation, and gait disturbances. Magnetic resonance imaging of the brain was unremarkable. Fluorodeoxyglucose-positron emission tomography showed basal ganglia hypometabolism, with severely reduced uptake in the right putamen and caudate on Technetium-99m labeled TRODAT-1 Single Photon Emission Computed Tomography (TRODAT SPECT) imaging. A heterozygous pathogenic missense variant in ACTB gene (c.547C>T; p.Arg183Trp) with an additional heterozygous variant in VPS16 (c.1612C>A; p.Leu538Met) was identified. The ACTB variant explains core DDS features, whereas the coexisting VPS16 variant represents an additional finding of uncertain clinical significance. This case highlights the functional imaging abnormalities in ACTB -related DDS and emphasizes the value of multimodal imaging in the evaluation of genetically confirmed complex dystonia.