Developmental Pediatrics, Surrey and Borders Partnership NHS Foundation Trust, Leatherhead, UK
Developmental Pediatrics, Surrey and Borders Partnership NHS Foundation Trust, Leatherhead, UK.
BMJ Case Rep. 2023 Sep 7;16(9):e254741. doi: 10.1136/bcr-2023-254741.
Waardenburg syndrome is a rare genetic condition with an incidence of 1 in 212 000. The condition is classically associated with distinctive facial features, congenital hearing loss and pigmentary changes of the hair, iris and skin. There is a paucity of literature about the association of neurodevelopmental conditions with this syndrome. We present a toddler with Waardenburg syndrome type 1 who was referred to our service for developmental delay concerns. The child was diagnosed with the condition at birth, had distinctive facial features, but the hearing was normal. The child's father also shares a similar mutation. Following a multidisciplinary assessment, the child was diagnosed to have autism spectrum disorder with possible regression. We acknowledge that there may not be a causal relationship between autism spectrum and Waardenburg syndrome. However, this highlights the need for developmental surveillance among children diagnosed with Waardenburg syndrome and to consider its association with neurodevelopmental conditions.
瓦登伯格综合征是一种罕见的遗传性疾病，发病率为每 212000 人中 1 例。该疾病通常与独特的面部特征、先天性听力损失以及毛发、虹膜和皮肤的色素变化有关。关于该综合征与神经发育状况的关联，文献记载甚少。我们报告了一例 1 型瓦登伯格综合征的幼儿，因发育迟缓问题转诊至我们的服务机构。该患儿出生时即被诊断为该病，具有独特的面部特征，但听力正常。患儿的父亲也携带类似的突变。经过多学科评估，患儿被诊断为自闭症谱系障碍，可能伴有退行性变化。我们承认自闭症谱系障碍和瓦登伯格综合征之间可能不存在因果关系。然而，这凸显了对诊断为瓦登伯格综合征的儿童进行发育监测的必要性，并需要考虑其与神经发育状况的关联。
