Association of Adrenal Insufficiency With Pediatric Pseudotumor Cerebri Syndrome

Questions Is there an association between adrenal insufficiency and pediatric pseudotumor cerebri syndrome? Findings In this case series, 5 children who were prepubertal, were nonobese, and had pseudotumor cerebri syndrome and optic nerve edema were found to have abnormal cortisol function consistent with adrenal insufficiency. Initiation of physiologic hydrocortisone to treat adrenal insufficiency resulted in the resolution of clinical pseudotumor cerebri syndrome symptoms and optic nerve edema and a shorter duration of conventional medical therapy. Meaning Pseudotumor cerebri syndrome is associated with hypocortisolism in the prepubertal pediatric population; identifying risk factors for adrenal insufficiency (exogenous glucocorticoid use), obtaining cortisol testing in the initial workup, and treatment based on causative mechanism may lead to improved outcomes. This case series describes 5 pediatric patients in whom pediatric pseudotumor cerebri syndrome was associated with adrenal insufficiency. Importance Pediatric pseudotumor cerebri syndrome pathophysiology is complex and not well delineated. Therefore, it is important to identify potential contributors or targets underlying the primary pathogenesis for its development. Objective To report cases highlighting the association of pediatric pseudotumor cerebri syndrome with adrenal insufficiency. Design, Setting, and Participants This noncontrolled, observational case series included pediatric patients diagnosed with pseudotumor cerebri syndrome and adrenal insufficiency at an urban academic children's hospital in Houston, Texas, from June 2015 to October 2019. Main Outcomes and Measures Monitoring optic nerve edema by clinical examination, fundus photography, and optical coherence topography images of the optic nerve. Results Data were collected from 5 pediatric patients (age range, 5-10 years) diagnosed with pseudotumor cerebri syndrome and adrenal insufficiency. One was a girl; all were White and prepubertal. Three patients had unrecognized glucocorticoid exposure. All patients had bilateral optic nerve edema that was initially treated with acetazolamide or topiramate, but cortisol functional testing by either 8amcortisol or cosyntropin stimulation tests revealed a diagnosis of central adrenal insufficiency. Treatment with physiological doses of hydrocortisone resulted in resolution of optic nerve edema and clinical symptoms of pseudotumor cerebri syndrome, as well as a shorter time receiving medical therapy. Conclusions and Relevance In this case series, adrenal insufficiency was associated with both primary and secondary prepubertal pediatric pseudotumor cerebri syndrome. As a potential target specific to causative mechanism, physiologic hydrocortisone therapy resolved the condition. To date, there remains a global unawareness among clinicians about the suppressive outcome that glucocorticoids may have on the developing hypothalamic-pituitary-adrenal axis, resulting in adrenal insufficiency and so-called episodic pseudotumor cerebri syndrome in young children. Ophthalmologists and pediatric subspecialists should implement cortisol testing via either 8amcortisol or cosyntropin stimulation tests at initial evaluation of all children with pseudotumor cerebri syndrome and risk factors for adrenal insufficiency, no predisposing causes, or nonresponse to conventional treatment. Further management and treatment should be in combination with ophthalmology and endocrine services.