Endocrine Abstracts

Introduction: 11-Hydroxylase deficiency is a rare form of congenital adrenal hyperplasia characterized by glucocorticoid deficiency, hypertension, hypokalemia and virilization in females. We report a case of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency revealed by bilateral papilledema in the context of arterial hypertension.

Case report: A 13-year-old patient, with no medical history, presented with complains of headache, vomiting and bilateral visual blurring. Visual acuity was 10/10 in both eyes. The fundus examination showed bilateral papilledema. Brain magnetic resonance imaging was normal. The blood pressure was at 17/10. Holter monitoring of blood pressure revealed high blood pressure levels. The patient also presented with hirsutism. The etiological assessments concluded with an adrenal enzymatic block caused by 11-hydroxylase deficiency. The patient was successfully treated with glucocorticoids.

Discussion: 11beta-hydroxylase deficiency is the second cause after 21-hydroxylase deficiency of congenital adrenal hyperplasia, and accounts for about 5 to 8% of cases. 11beta-hydroxylase deficiency is clinically manifested by a syndrome of hyperandrogenism associated with arterial hypertension found in two out of three patients with this anomaly. In this case, the condition was revealed by bilateral stasis papilledema associated with arterial hypertension. Indeed, papilledema is the clinical expression of various conditions in children. Its management is urgent because vital and visual prognoses can be engaged. Stasis edemas are caused by general conditions, the leader of which is intracranial hypertension, whatever its etiology. A second cause that should not be overlooked is represented by malignant hypertension.

Conclusion: Papilledema in children poses many problems, including diagnostic ones. Its management is urgent because vital and visual prognoses can be engaged. The diagnosis and the treatment can be multidisciplinary involving ophthalmologist, radiologist and neuropediatrician and endocrinologist.