Center for Rare Movement Disorders Innsbruck, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.
Institut for Neurogenetics, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764, Oberschleißheim, Munich-Neuherberg, Germany.
Orphanet J Rare Dis. 2022 Feb 16;17(1):55. doi: 10.1186/s13023-022-02218-8.
The genetic landscape of neurodevelopmental disorders is constantly expanding and children with early-onset neurological phenotypes increasingly receive a genetic diagnosis. Nonetheless, the awareness of the chronic course of these conditions, and consequently their recognition and management in the adult population, is still limited.
Herein, we describe four patients with rare neurodevelopmental disorders (SON, ZMYND11, DNMT1 and YY1-related diseases), who received a genetic assignment only in the adulthood. All these patients had an early developmental delay and displayed a movement disorder (dystonia/ataxia/tremor) which manifested for the first time, or worsened, in the adulthood, prompting the referral to a neurologist. This phenotypic combination led eventually to the genetic testing. We report previously unrecognized features and highlight the peculiarities of the adult presentation of four neurodevelopmental disorders.
This report expands the current knowledge on four rare neurodevelopmental disorders (SON, ZMYND11, DNMT1 and YY1), which was mainly based on reports from paediatric cases. This case series emphasize the importance of a tight neurological surveillance extending beyond the childhood.
神经发育障碍的遗传图谱不断扩大，越来越多的具有早发性神经表型的儿童接受基因诊断。尽管如此，这些疾病的慢性病程，以及随之而来的在成年人群中的识别和管理，仍然有限。
本文描述了 4 名患有罕见神经发育障碍（SON、ZMYND11、DNMT1 和 YY1 相关疾病）的患者，他们直到成年后才被确诊。这些患者均存在早期发育迟缓，并在成年后首次出现或恶化运动障碍（肌张力障碍/共济失调/震颤），促使他们向神经科医生就诊。这种表型组合最终导致了基因检测。我们报告了以前未被认识的特征，并强调了四种神经发育障碍在成年期表现的特殊性。
本报告扩展了对四种罕见神经发育障碍（SON、ZMYND11、DNMT1 和 YY1）的现有认识，这些障碍主要基于儿科病例的报告。该病例系列强调了超越儿童期进行密切神经监测的重要性。
