ROHHAD syndrome spectrum in an adult: a possible new variant.

Ángel Ortega-GonzálezRodrigo Perea-RozasAna Martínez-GarcíaFrancisco Rodríguez-ArgenteÁngel Ortega-Moreno

Published in: ERJ open research (2024)

This case report describes for the first time the evolution of a mature patient with all the diagnostic criteria for ROHHAD syndrome. It shows a rare case of central alveolar hypoventilation with hypothalamic impairment, dysautonomia and rapid weight gain. https://bit.ly/49AN3Vv.

Keyphrases

case report
weight gain
rare case
body mass index
birth weight
weight loss
physical activity
positive airway pressure
loop mediated isothermal amplification
sensitive detection