Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time.

ABSTRACT:

Background

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare syndrome with unknown etiology. Metabolic abnormalities are not known to be part of the syndrome. We present one of the oldest cases reported in the literature, who developed severe metabolic abnormalities and hepatic disease suggesting that these features may be part of the syndrome.

Case presentation

A 27-year-old woman, diagnosed with ROHHAD syndrome at age 15, who previously developed diabetes insipidus, growth hormone deficiency, hyperprolactinemia, and hypothyroidism in her first decade of life. This was followed by insulin resistance, NAFLD, liver fibrosis, and splenomegaly before age 14 years. Her regimen included a short course of growth horm

SUBMITTER: Jalal Eldin AW 

PROVIDER: S-EPMC6617654 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature