A case of primary adrenal insufficiency unfolding itself as a genetic syndrome

Abstract

ABSTRACT Addison disease can occur at any age but most often presents during the second or third decades of life. An 11-year-old male child presented to us with complaints of pigmentation of the skin, decreased appetite, and weight loss from the last 1 year. He also had visual disturbances and learning disabilities from last 6 months. Investigations revealed the diagnosis of adrenal insufficiency and neuroimaging done was suggestive of diffuse demyelination. For further confirmation, a blood sample was sent for determination of very long chain fatty acids, which revealed accumulation of C26 fatty acids, thus confirming the diagnosis of adrenoleukodystrophy. He was treated with hydrocortisone, fludrocortisone, and anti-oxidants and was referred for bone marrow transplantation. X-linked adrenoleukodystrophy is a genetic disease, so a high index of suspicion is required to diagnose it in cases presenting primarily with non-neurological symptoms.