Abstract：
Individuals with biallelic TBCK pathogenic variants present in infancy with distinctive facial features, profound hypotonia, severe intellectual impairment and epilepsy. Although rare, it may mimic other neurogenetic disorders leading to extensive investigations. Improved understanding of the clinical phenotype can support early monitoring of complications due to respiratory insufficiency. We present six individuals who were found to have pathogenic biallelic TBCK variants. The clinico-radiological and diagnostic records were reviewed. Five individuals were diagnosed with hypoventilation, requiring respiratory support, highlighting the need for early respiratory surveillance. Characteristic brain imaging in our cohort included periventricular leukomalacia-like changes. We recommend screening for TBCK in hypotonic children with periventricular leukomalacia-like changes, particularly in the absence of prematurity.
摘要：
婴儿期存在双等位基因TBCK致病变异的个体，具有独特的面部特征，深度肌张力减退,严重的智力障碍和癫痫。虽然罕见，它可能模仿其他神经遗传疾病，导致广泛的研究。提高对临床表型的了解可以支持早期监测由于呼吸功能不全引起的并发症。我们介绍了六个被发现具有致病性双等位基因TBCK变体的个体。回顾了临床放射学和诊断记录。五人被诊断为通气不足，需要呼吸支持，强调早期呼吸监测的必要性。我们队列中的特征性脑成像包括脑室周围白质软化样变化。我们建议在脑室周围白质软化样改变的低张性儿童中筛查TBCK，特别是在没有早产的情况下。
