A Saudi Girl with Familial Glucocorticoid Deficiency Presented with Visual Hallucinations as a Sign of Adrenal Insufficiency Crises: Case Report and Literature Review

Abstract Introduction: Familial glucocorticoid deficiency (FGD) is a disease of ACTH resistance in which the cells of the zona fasciculata within the adrenal cortex fail to respond appropriately to stimulation by ACTH to produce cortisol. Genetic testing is essential in patients presented with familial isolated glucocorticoid deficiency (FGD)/ACTH resistance demonstrates mutations in the ACTH receptor gene melanocortin two receptors (MC2R), which indicates an apparent probability for causing primary adrenal insufficiency. FGD is manifested by glucocorticoid deficiency alone. Case description: 12 years old female who was in regular follow-up with an endocrinologist as a case of adrenal insufficiency and query IMAGe syndrome. The patient presented to the emergency department with a history of confusion state, frontal headache, blindness, visual hallucination, and vomiting. After presenting to ER, the patient was treated with corticosteroid, and she dramatically regained her level of consciousness and improved. Whole exome sequencing (WES) was sent and revealed a homozygous mutation in the melanocortin two receptors (MC2R) gene, indicating familial glucocorticoid deficiencies. Conclusions: Adrenal insufficiency should be suspected in a child with familial glucocorticoid deficiency who presents to the hospital with no specific psychiatric signs as visual hallucination. Early diagnosis and early management are crucial to address for a full recovery. Keywords: Familial glucocorticoid deficiency; Melanocortin 2 receptors (MC2R) gene; Adrenal insufficiency; Psychiatric manifestation; Visual hallucination