Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who was referred to a clinical genetics service for investigation of lipodystrophy and failure to thrive. A broad range of genetic differential diagnoses were considered and investigated before a mass lesion was identified in the hypothalamus, confirming diencephalic syndrome. In the context of this case, we consider the relevant differentials and appropriate workup of a child with lipodystrophy presenting to a genetics service. This report also highlights the importance of considering diencephalic syndrome in cases such as this.

中文翻译：

---

一例脑外综合征，伴有脂肪代谢障碍。

二脑综合征是一种在儿童时期严重消瘦的疾病。疾病的稀有性加上非特异性症状意味着经常需要漫长的诊断过程。在这里，我们报告了一个儿童，该儿童被转诊到临床遗传学服务处以调查脂肪营养不良和to壮成长。在下丘脑中发现大块病变之前，考虑并调查了广泛的遗传学差异诊断，证实了双脑综合征。在这种情况下，我们考虑了遗传学服务的脂肪营养不良儿童的相关差异和适当的检查。该报告还强调了在这种情况下考虑脑性综合征的重要性。