Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization

Pediatric Neurology
Cristelle ChowTerrence Thomas

Abstract

Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome has proved elusive. Most patients had neuroimaging after cardiorespiratory collapse, revealing a range of ischemic lesions. A 15-year-old obese boy with an acute febrile encephalopathy had hypoventilation, autonomic dysfunction, visual hallucinations, hyperekplexia, and disordered body temperature, and saltwater regulation. These features describe the ROHHAD syndrome. Cerebrospinal fluid analysis showed pleocytosis, elevated neopterins, and oligoclonal bands, and serology for systemic and antineuronal antibodies was negative. He improved after receiving intravenous steroids, immunoglobulins, and long-term mycophenolate. Screening for neural crest tumors was negative. Magnetic resonance imaging of the brain early in his illness showed focal inflammation in the periaqueductal gray matter and hypothalamus. This unique localization explains almost all symptoms of this rare autoimmune encephalitis.

References

Jul 1, 1994·Journal of Child Neurology·K N NorthI J Hopkins
Feb 12, 2002·Neuroscience and Biobehavioral Reviews·John S YeomansPaul W Frankland
Dec 16, 2003·Current Opinion in Rheumatology·Susanne Benseler, Rayfel Schneider
Jan 13, 2004·Physiological Reviews·José Antunes-RodriguesSamuel M McCann
May 21, 2008·Brain & Development·Jun-ichi TakanashiA James Barkovich
Jan 18, 2012·Neurology·Eduardo E Benarroch
Nov 21, 2012·The Journal of Pediatrics·Thaís ArmangueUNKNOWN Spanish Anti-N-methyl-D-Aspartate Receptor (NMDAR) Encephalitis Work Group
Apr 24, 2013·Neuroimaging Clinics of North America·Naila MakhaniManohar Shroff
Aug 14, 2013·Pediatrics·Karlien DhondtSebastiaan Overeem
Sep 14, 2013·Brain : a Journal of Neurology·Rhys H ThomasMark I Rees
Aug 19, 2014·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Robert A Avery

❮ Previous
Next ❯

Citations

Nov 12, 2015·Respiratory Physiology & Neurobiology·Sarah F BarclayDebra E Weese-Mayer
Jul 25, 2019·Clinical Diabetes and Endocrinology·Abdel Wahab Jalal EldinElif A Oral
Sep 30, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Maria FilippidouChristina Kanaka-Gantenbein
Feb 11, 2019·Current Treatment Options in Oncology·Anna J JanssBriana Patterson

❮ Previous
Next ❯

Related Concepts

Related Feeds

CSF & Lymphatic System

This feed focuses on Cerebral Spinal Fluid (CSF) and the lymphatic system. Discover the latest papers using imaging techniques to track CSF outflow into the lymphatic system in animal models.