A case of diencephalic syndrome presenting with isolated lipodystrophy. Issue 4 (October 2018)

• Record Type: Journal Article
• Authors: McDermott, John H.; Harris, Julie; Fédée, Joanne; Skae, Mars; Semple, Robert; Douzgou, Sofia
• Is Part Of: Clinical dysmorphology. Volume 27:Issue 4(2018:Oct.)
• Publication Date: 2018-10
• Subjects: congenital generalized lipodystrophy -- diencephalic syndrome -- lipodystrophy; Abnormalities, Human -- Periodicals; Genetic disorders -- Periodicals; Abnormalities -- periodicals; Abnormalities, Human; Periodicals; 616.042
• DOI: 10.1097/MCD.0000000000000235
• Languages: English
• ISSNs: 0962-8827

Abstract

Abstract : 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.