A Case of Rapid-Onset Obesity with Hypothalamic Dysfunction,Hypoventilation, Autonomic Dysregulation,and Neural Crest Tumor: Rohhadnet Syndrome |
| |
| Institution: | 1. Pediatric Endocrinology Department, Eylöl University Faculty of Medicine, Izmir, Turkey;2. Pediatric Neurology Department, Eylöl University Faculty of Medicine, Izmir, Turkey;3. Pediatric Intensive Care Unit, Eylöl University Faculty of Medicine, Izmir, Turkey;4. Pediatric Hematology and Oncology Department, Eylöl University Faculty of Medicine, Izmir, Turkey;5. Radiology Department of Dokuz, Eylöl University Faculty of Medicine, Izmir, Turkey;1. Sapienza University of Rome Experimental Medicine Department Medical Physiopathology, Food Science and Endocrinology Section Food Science and Human Nutrition Research Unit;1. Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan;2. Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan;3. Department of Neurology, National Hospital Organization Kyoto Medical Center, Kyoto, Japan;4. Department of Pediatrics, National Hospital Organization Kyoto Medical Center, Kyoto, Japan;5. Department of Endocrinology and Metabolism, Kin-i-kyo Chuo Hospital, Sapporo, Japan;1. Diabetes Care Center, Salinas, California, United States;2. IDIBELL-Hospital Universitari Bellvitge, CIBERDEM, Barcelona, Spain;;3. Florida Hospital, Orlando, Florida, United States;4. Department of Endocrinology, Ochsner Medical Center, New Orleans, Louisiana, United States;5. Novo Nordisk A/S, Sϕborg, Denmark;;6. Department of Medical and Surgical Sciences, University Magna Graecia of Catanzaro, Italy. |
| |
| Abstract: | ObjectiveRapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disorder that mimics both common obesity and genetic obesity syndromes along with several endocrine disorders during early childhood. We aim to present the clinical features, laboratory and imaging results, and treatment outcomes of a patient with ROHHAD syndrome.MethodsIn this case report, we describe a 26-month-old boy who was admitted to our emergency department with dyspnea and cyanosis and was suspected to have ROHHAD syndrome due to his rapid-onset obesity and alveolar hypoventilation.ResultsA thoracal and abdominal magnetic resonance imaging was performed to demonstrate a possible accompanying neural crest tumor and it provided a yet asymptomatic retroperitoneal ganglioneuroblastoma. Based on these findings, the patient was diagnosed as ROHHADNET syndrome.ConclusionBecause of the high prevalence of cardiorespiratory arrest and probability of accompanying tumors, early recognition of ROHHAD syndrome is important. To prevent presumptive mortality and morbidity, ROHHAD syndrome should be considered in all cases of rapid and early-onset obesity associated with hypothalamic-pituitary endocrine dysfunctions. (Endocr Pract. 2013;19:e13-e16) |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
