Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review.

ABSTRACT:

Background and aim

ROHHADNET (rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, neuroendocrine tumor) syndrome is a rare disease with grave outcome. Although early recognition is essential, prompt diagnosis may be challenging due to its extreme rarity. This study aimed to systematically review its clinical manifestation and to identify genetic causes.

Materials and methods

We firstly conducted a systematic review on ROHHAD/NET. Electronic databases were searched using related terms. We secondly performed whole exome sequencing (WES) and examined copy number variation (CNV) in two patients to identify genetic causes.

Results

In total, 46 eligible studies including 158 patients were included. There were 36 case reports available for indivi

SUBMITTER: Lee JM 

PROVIDER: S-EPMC6280256 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature