Bhalla Deepali, Sati Sunil, Basel Donald, Karody Vijender
Medical College of Wisconsin, Milwaukee, WI, United States.
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, United States.
Front Pediatr. 2024 Apr 2;12:1341841. doi: 10.3389/fped.2024.1341841. eCollection 2024.
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive disorder that is characterized by bowing of long bones, dysautonomia, temperature dysregulation, swallowing and feeding difficulties, and frequent respiratory infections. Respiratory distress and hyperthermic events are the leading causes of early neonatal death, and most patients are not expected to survive past infancy. Here, we report on the survival of a 5-year-old male with SWS, discussing his case presentation, providing a brief clinical course, and discussing the outcome. This case adds to the literature surrounding rare instances of childhood survivors of SWS and raises awareness for this syndrome to facilitate an earlier recognition, intervention, and genetic counseling for the families, thereby improving understanding of this disease and the health outcomes for the children affected by this condition.
施特维-维德曼综合征（SWS）是一种罕见的常染色体隐性疾病，其特征为长骨弯曲、自主神经功能障碍、体温调节异常、吞咽和喂养困难以及频繁的呼吸道感染。呼吸窘迫和高热事件是新生儿早期死亡的主要原因，大多数患者预计无法存活至婴儿期以后。在此，我们报告一名患有SWS的5岁男性的存活情况，讨论其病例表现，提供简要的临床病程，并探讨结果。该病例补充了有关SWS儿童幸存者罕见病例的文献，并提高了对该综合征的认识，以便为家庭提供更早的识别、干预和遗传咨询，从而增进对这种疾病的了解以及改善受该疾病影响儿童的健康结局。
