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Pseudotumor cerebri controlled with ventriculo-peritoneal shunt as a rare complication of ROHHAD syndrome: a case report

Background: rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare yet possibly fatal condition. It is similar to common obesity syndromes (whether exogenous or genetic) sideways with other endocrinopathy in early childhood. Objective of the study: this study aimed to present the clinical manifestations, laboratory and imaging results as well as complications and treatment particularly for ventriculo-peritoneal shunt for a ROHHAD patient with pseudotumor cerebri. Patient and methods: in this case report, a 10-year-old girl was presented to the emergency department with recurrent episodes of dyspnea, hypernatremia and cyanosis. Results: her obesity was controlled with sleeve surgery and hormonal evaluation showed high prolactin level and hypothyroidism. She continued to have symptomatic hypoventilation and severe Pseudo-Tumor Cerebri (PTC), idiopathic intracranial hypertension (IIH), in addition to significant reduction in her visual acuity. She was diagnosed with ROHHAD syndrome based on the clinical, laboratory and radiological findings. Brain and abdominal magnetic resonance imaging were performed to demonstrate a possible accompanying neural crest tumor, which was normal, but follow-up images were recommended. Conclusion: ROHHAD syndrome should be suspected in all cases of rapid onset obesity associated with hypothalamic-pituitary endocrine dysfunction. Also provided the high prevalence of cardiorespiratory arrest and potentially associated neural crest tumors, early recognition of ROHHAD syndrome is quite crucial to avert mortality and morbidity. Moreover, Early ventriculoperitoneal shunt insertion might be a lifesaving procedure to avoid visual impairment and subsequent blindness in severe pseudotumor cerebri.