Emphasizing autonomic dysregulation evaluation contributes to the diagnosis of ROHHAD syndrome.

ABSTRACT:

Objective

Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is rare, and manifestations of autonomic dysregulation are diverse and may be overlooked. We aimed to evaluate the incidence of these manifestations.

Methods

Patients with ROHHAD syndrome reported before and after 2019 were divided into groups 1 and 2. Patients who were diagnosed at three regional hospitals in China were included in group 3. We collected the age of each specific term of the ROHHAD (neurogenic tumor, NET) acronym and the detailed manifestations of each term, and compared them among the three groups.

Results

A total of 16 patients were diagnosed within the 2-year period. Two had neurogenic tumors and cognitive and behavioral abnormalities b

SUBMITTER: Wang Y 

PROVIDER: S-EPMC11562685 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature