Article (Scientific journals)
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge
Desse, Blandine; Tran, Antoine; Butori, Mathilde et al.
2022In Frontiers in Pediatrics, 10
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Keywords :
Pediatrics, Perinatology and Child Health; ROHHAD
Abstract :
[en] BackgroundROHHAD 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 methodsA retrospective, observational, multicenter study including all cases of ROHHAD without rapid-onset obesity diagnosed in France from 2000 to 2020.ResultsFour patients were identified. Median age at diagnosis was 8 years 10 months. Median body mass index was 17.4 kg/m2. Signs of autonomic dysfunction presented first, followed by hypothalamic disorders. All four patients had sleep apnea syndrome. Hypoventilation led to the diagnosis. Three of the four children received ventilatory support, all four received hormone replacement therapy, and two received psychotropic treatment. One child in our cohort died at 2 years 10 months old. For the three surviving patients, median duration of follow-up was 7.4 years.ConclusionROHHAD syndrome without rapid-onset obesity is a particular entity, appearing later than ROHHAD with obesity. This entity should be considered in the presence of dysautonomia disorders without brain damage. Likewise, the occurrence of a hypothalamic syndrome with no identified etiology requires a sleep study to search for apnea and hypoventilation. The identification of ROHHAD syndrome without rapid-onset obesity is a clinical challenge, with major implications for patient prognosis.
Disciplines :
Pediatrics
Author, co-author :
Desse, Blandine
Tran, Antoine
Butori, Mathilde
Marchal, Sarah
Afanetti, Michael
Barthélemy, Sébastien
Bérard, Etienne
Baechler, Elisabeth
Debelleix, Stéphane
Lampin, Marie-Emilie
Macey, Julie
Massenavette, Bruno
Harvengt, Julie  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Trang, Ha
Giovannini-Chami, Lisa
More authors (5 more) Less
Language :
English
Title :
ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge
Publication date :
31 August 2022
Journal title :
Frontiers in Pediatrics
eISSN :
2296-2360
Publisher :
Frontiers Media SA
Volume :
10
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 05 September 2022

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