ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge

peer reviewedBackgroundROHHAD 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

Facteurs prédictifs d échec de la ventilation non invasive chez les nourrissons hospitalisés pour bronchiolite aiguë

La bronchiolite aiguë est une cause fréquente d insuffisance respiratoire aiguë du nourrisson et réalise des tableaux hypoxiques, hypercapniques ou mixtes. La ventilation non invasive (VNI), maintenant largement utilisée en première intention, a révolutionné leur prise en charge, diminuant la nécessité de l intubation. L utilisation de la VNI chez les patients hypoxiques est controversée en particulier chez l adulte. Les objectifs de notre étude sont de déterminer les facteurs prédictifs d échec de la VNI chez des nourrissons hospitalisés pour première bronchiolite et d étudier l impact de l hypoxie sur leur devenir. Nous avons recueilli les données cliniques et paracliniques de 114 nourrissons hospitalisés dans le service de réanimation de l hôpital Necker (Paris) entre 2007 et 2011. Une intubation et une ventilation invasive, définissant l échec de la VNI a été nécessaire chez 36 patients (31.6 %). Les facteurs prédictifs d échec étaient en analyse multivariée: un terme de naissance inférieur à 35 semaines d aménorrhée et un rapport PaO2/FiO2 bas. L échec de la VNI et l hypoxie étaient associés à un allongement des durées de ventilation, d oxygénothérapie, de séjour en réanimation et d hospitalisation. Nous avons constaté une diminution progressive du taux d intubation et une modification concomitante des profils respiratoires des patients inclus avec une augmentation de la proportion d enfants ayant une atteinte respiratoire peu sévère. La VNI est utilisée en première intention dans la prise en charge des bronchiolites sévères avec un taux d échec faible. Les enfants prématurés et/ou avec une atteinte hypoxique sous VNI doivent être surveillés de façon rapprochée.PARIS6-Bibl.Pitié-Salpêtrie (751132101) / SudocSudocFranceF

Table_1_ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.docx

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.</p