ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.

ABSTRACT:

Background

ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients develop ROHHAD syndrome without obesity. The prevalence of this entity is currently unknown. Alteration of respiratory control as well as dysautonomic disorders often have a fatal outcome, thus early recognition of this syndrome is essential.

Material and methods

A retrospective, observational, multicenter study including all cases of ROHHAD without rapid-onset obesity diagnosed in France from 2000 to 2020.

Results

Four patients were identified. Median age at diagnosis was 8 years 10 months. Median body mass index was 17.4 kg/

SUBMITTER: Desse B 

PROVIDER: S-EPMC9471950 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature