Neuroimaging and Pathology Findings Associated With Rapid Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome
Jaspreet Gharial, Aravind Ganesh, Colleen Curtis, Anvita Pauranik, Jennifer A. Chan, Kyle C. Kurek, Lucie Lafay‐Cousin
Abstract
Rapid onset Obesity, Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is a rare syndrome whose underlying pathophysiology and etiology remain elusive. We present the case of a 36-month-old boy with the classic symptoms of ROHHAD and a neuroendocrine tumor, who progressed rapidly and subsequently succumbed to cardiorespiratory arrest because of hypoventilation. His magnetic resonance imaging findings at the initial diagnosis and the brain autopsy results are detailed. The literature was reviewed to summarize the current understanding of the underlying mechanism of this rare disorder.
Topics & Concepts
HypoventilationEtiologyMedicineNeuroimagingPathophysiologyCardiorespiratory fitnessMagnetic resonance imagingObesity hypoventilation syndromeAutopsyNeurosciencePediatricsPathologyCardiologyObesityPsychologyInternal medicinePsychiatryRespiratory systemRadiologyNeuroscience of respiration and sleepCannabis and Cannabinoid ResearchDiet and metabolism studies