Adrenocorticotropic Insufficiency: Important Differential Diagnosis in Neuropsychiatric Diseases

Abstract

The adrenal stress response is a neuroendocrine regulation system of essential importance. Current clinical symptoms of its impaired function are exercise intolerance, vertigo, syncope, confused consciousness, fatigue, mood depression, and hence neuropediatric presentations. Because of this unspecific presentation, patients are often suspected to have a psychiatric or dissociative disease. Patients: We report approximately 15 patients aged 5 to 17 years presenting with earlier mentioned symptoms, some of them with years of prehistory before approaching neuropediatric diagnostic work-up. Besides this, all of them received a stepwise testing of the adrenocorticotropic axis using a low dose adrenocorticotropic hormone—stimulation test und further stimulation tests if necessary. Results: Pf the 15 patients, 5 patients suffered from adrenal insufficiency, 3 with increased adrenal antibodies, 1 with X-ALD, and 1 unclear. The other 10 patients showed pituitary or hypothalamic malfunction, 7 unclear, 1 craniopharyngeoma, 1 prolactinoma, and 1 hypothalamic lipoma. One girl with autoimmune adrenal insufficiency also suffered from temporal lobe epilepsy. Of the 15 patients, 2 patients demonstrated with depressive symptoms. The two pituitary tumor patients also had additive hormonal impairments. Therapeutic substitution with hydrocortisone or dexamethasone led to clinical improvement in all patients. Discussion: Disturbed stress regulation often leads to unspecific symptoms overlapping the field of neuropediatric and psychogenic differential diagnosis. Basal diagnostic work-up using low dose ACTH testing regularly identifies patients with endocrine disease and should be part of the diagnostic protocol.