ORIGINAL ARTICLESA case of diencephalic syndrome presenting with isolated lipodystrophyMcDermott, John H.a,c; Harris, Juliee; Fédée, Joanneh; Skae, Marsb,d; Semple, Robertf,g; Douzgou, Sofiaa,cAuthor Information aManchester Centre for Genomic Medicine, St Mary’s Hospital bDepartment of Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester University NHS Foundation Trust cSchool of Biological Sciences, Division of Evolution and Genomic Sciences dSchool of Medical Sciences, University of Manchester, Manchester eDepartment of Paediatrics, Academic Health Sciences Centre, Addenbrooke’s Hospital, Cambridge Biomedical Campus fWellcome Trust-MRC Institute of Metabolic Science, University of Cambridge gThe National Institute for Health Research, Cambridge Biomedical Research Centre, Cambridge hDepartment of Paediatrics, Royal Lancaster Infirmary, Lancaster, UK Correspondence to John H. McDermott, MBChB (Hons), BSc (Hons), Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK Tel: +44 161 701 2661; fax: +44 161 276 6145; e-mail: [email protected] Clinical Dysmorphology: October 2018 - Volume 27 - Issue 4 - p 122-125 doi: 10.1097/MCD.0000000000000235 Buy Metrics 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. Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.