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

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Sandhu Preet, Shah Jignesh

Keywords: ROHHAD, weight gain, perinephric masses

1. To discuss etiologies of unilateral hyperlucent hemithorax in children. 2. To discuss radiographic and cross-sectional imaging features of various conditions leading to unilateral hyperlucent hemithorax. Read More

Meeting name: SPR 2023 Annual Meeting & Postgraduate Course , 2023

Authors: Shah Jignesh, Chauhan Ankita, Sandhu Preet

Keywords: Unilateral hyperlucent hemithorax, congenital lobar overinflation, congenital pulmonary airway malformation

1. To discuss anatomy and development of pelvic retroperitoneal structures 2. To discuss etiologies and pathogenesis of pelvic retroperitoneal masses in children 3. To review multimodality imaging features with implications on management Read More

Meeting name: IPR 2016 Conjoint Meeting & Exhibition , 2016

Authors: Shah Jignesh, Gupta Saurabh, Sandhu Preet, Cohen Harris

Keywords: presacral mass