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

AI Article Synopsis

  • ROHHAD syndrome is characterized by rapid-onset obesity and various neurological dysfunctions, but its anatomical roots have been hard to identify, often only observed after serious medical events.
  • A case study of a 15-year-old boy presented with multiple symptoms, including hypoventilation and hallucinations, which fit the ROHHAD profile, and his cerebrospinal fluid showed signs of inflammation despite negative tests for other conditions.
  • Early MRI revealed inflammation in specific brain areas linked to his symptoms, suggesting that the hypothalamus and surrounding regions play a crucial role in this form of autoimmune encephalitis.

Article 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.

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Source
http://dx.doi.org/10.1016/j.pediatrneurol.2014.11.019DOI Listing

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