Cristelle Chow1, Marielle Valerie Fortier2, Lena Das3, Anuradha P Menon4, Rashida Vasanwala5, Joyce C M Lam6, Zhi Min Ng7, Simon Robert Ling1, Derrick W S Chan1, Chew Thye Choong1, Wendy K M Liew1, Terrence Thomas8. 1. Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore. 2. Department of Diagnostic Imaging, KK Women's and Children's Hospital, Singapore. 3. Rheumatology and Immunology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, Singapore. 4. Children's Intensive Care Unit, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, Singapore. 5. Endocrine Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore. 6. Haematology and Oncology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, Singapore. 7. Department of Paediatrics, KK Women's and Children's Hospital, Singapore. 8. Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore. Electronic address: Terrence.Thomas@kkh.com.sg.
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.
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 obeseboy 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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