ROHHAD(NET) syndrome: Systematic review of the clinical timeline and recommendations for diagnosis and prognosis

Abstract

Dysregulation and Neural Tumor Syndrome (ROHHHAD(NET)) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. Objective: To describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. Design: We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. Methods: All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the PRISMA individual patient data (IPD) guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, outcome. Results: 43 IPD were analyzed. The timeline of the disease shows rapid onset obesity