Challenging Diagnosis of Adrenoleukodystrophy as a Cause of Addison’s Disease

Abstract

Addison’s disease or primary adrenocortical insufficiency results from destruction or dysfunction of the adrenal cortex, leading to deficient adrenal production of glucocorticoids or mineralocorticoids. There are a number of causes of Addison’s disease. Of them, X-linked adrenoleukodystrophy (ALD) is a rare but important cause in men. It is characterized by neurological manifestation, e.g., cognitive dysfunction, behavioral problem, emotional lability, visual and gait disturbance, as well as primary adrenal insufficiency. This is the case of a 12-year-old boy who presented to us with gradual dimness of vision, progressive loss of memory, and stunted growth. After evaluation, he was diagnosed as a case of ALD, leading to cerebral features and primary adrenal insufficiency. Unlike other typical cases of primary adrenal insufficiency, this patient had no pigmentation, which suggests another rare entity termed as white Addison’s disease. Stepwise evaluation of his clinical presentation led us to reach the diagnosis.