Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome May Have a Hypothalamus–Periaqueductal Gray Localization

Abstract Background 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. Patient Des...

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Published in:Pediatric neurology 2015-05, Vol.52 (5), p.521-525
Main Authors: Chow, Cristelle, MBBS, MRCPCH, MMed (Paeds), Fortier, Marielle Valerie, MD, FRCPC, Das, Lena, MD, FAAP, Menon, Anuradha P., MBBS, MRCPCH, MMed (Paeds), Vasanwala, Rashida, MBBS, MRCPCH, MD (Paeds), Lam, Joyce C.M., MBBS, MRCPCH, MMed (Paeds), Ng, Zhi Min, MBBS, MRCPCH, MMed (Paeds), Ling, Simon Robert, MBBS, FRACP, Chan, Derrick W.S., BMBS, MRCPCH, Choong, Chew Thye, MBBS, MMed (Paeds), Liew, Wendy K.M., MBChB, MRCPCH, Thomas, Terrence, MD, MRCPCH
Format: Article
Language:English
Subjects:
Adolescent
autoimmune encephalitis
Autonomic Nervous System Diseases - etiology
Humans
hypothalamus
Hypothalamus - pathology
Hypoventilation - etiology
Magnetic Resonance Imaging
Male
Neurology
Obesity - complications
Obesity - pathology
Pediatrics
Periaqueductal Gray - pathology
periaqueductal gray matter
ROHHAD syndrome
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Summary:Abstract Background 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. Patient Description 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. Conclusion 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.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2014.11.019