Sandhu Preet,  Shah Jignesh

Final Pr. ID: Poster #: CR-078

We present a case of a rare entity, ROHHAD syndrome. A 2 year and 11 month old previously healthy caucasian girl was seen at an outside hospital, and was noticed to have hypothermia (90-93 degree F), bradycardia (heart rate of 30), and decreased blood oxygen saturation (40%). She was transferred to our emergency room. Past medical history was positive for viral meningitis in infancy, and asthma. Additional history of sudden weight gain since 1 ½ years of age was noted. Concern for ROHHAD syndrome, a rare entity was raised in light of sudden weight gain, and signs of autonomic dysfunction. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) of the brain were performed, which were positive for mild parenchymal volume loss. CT of the abdomen was performed which showed multiple enhancing left perinephric and paraspinal masses, concerning for neural crest tumors. Iodine-123-Meta-iodobenzylguanidine (MIBG) scan was performed which was positive. Urine Homovanillic and Vanillylmandelic acid/g creatinine were elevated. Patient underwent resection of left perinephric masses and pathology showed neuroblastoma with intermixed Ganglioneuroblastoma elements.
ROHHAD is a rare disease and only 100 cases have been reported. Anatomic malformations of Autonomic nervous system including tumors of neural crest origin occur in 40 % of cases. Term ROHHADNET- Rapid Onset obesity with Hypothalamic Dysregulation, Hypoventilation and Autonomic Dysregulation and neuroendocrine tumors has been used to describe these cases. Read More

Authors:  Sandhu Preet , Shah Jignesh

Keywords:  ROHHAD, weight gain, perinephric masses