ROHHAD

ROHHAD

ROHHAD stands for rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. It is a genetically related and inherited dysregulation syndrome that may develop in children who are obese or have a family history of related disorders such as Prader-Willi syndrome. Symptoms of ROHHAD include rapid weight gain, breathing difficulties, and problems with the autonomic nervous system.From: Section 10: Obesity hypoventilation in children [2018]

Familial Neuroblastoma

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Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020

Dongyou Liu

In addition, neuroblastoma may sometimes constitute part of cancer predisposition syndromes, including ROHHAD syndrome (rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysfunction, which overlaps clinically with CCHS but lacks PHOX2B mutation), RASopathies (e.g., Costello syndrome [HRAS mutation], Noonan syndrome [PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, MEK1, and RIT1 mutations], neurofibromatosis type 1 [NF1 mutation], Beckwith–Wiedemann syndrome [BWS, CDKN1C mutation], Li–Fraumeni syndrome [LFS, TP53 mutation], and hereditary pheochromocytoma/paraganglioma syndrome, etc.) [11–13]. However, genetic causes for about 15% of familial neuroblastoma cases have yet to be identified.

Section 10: Obesity hypoventilation in children

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Published in Canadian Journal of Respiratory, Critical Care, and Sleep Medicine, 2018

Manisha Witmans, Ian MacLusky, David Zielinski, Reshma Amin

Obesity can lead to altered breathing during wakefulness and sleep. Central hypoventilation (related to excessive load on respiratory muscles, decreased function of the ventilatory drive or a combination of both) is addressed in this section, with a specific focus on hypoventilation associated with obesity, also known as obesity hypoventilation syndrome (OHS). OHS may develop either as an isolated disorder associated with obesity or as part of a constellation of genetically related and inherited dysregulation syndromes, such as Prader-Willi syndrome and rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood (ROHHAD).

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Familial Neuroblastoma

Section 10: Obesity hypoventilation in children