A patient in his early 20's presenting with Adrenoleukodystrophy and Addison's disease; A case report

Abstract

Adrenoleukodystrophy (ALD) is an X-linked disorder caused by ABCD1 gene hemizygous mutation. Patients with ALD have central nervous system (CNS) demyelination and Primary adrenal insufficiency (PAI). We are presenting here a case of 21-year-old boy with Addison's disease type of ALD. The patient had hyperpigmentation of skin for 3-years, body rash, bouts of diarrhoea, gradual weight loss of 21 kg from 60 to 49 kg and inability to walk for last 3-months. His labs showed elevated CPK (678 U/L), Serum cortisol A.M (1.5µg/dL), and ACTH (1774 pg/mL), USG was normal, contrast enhanced Brain MRI showed abnormal signal areas. Based on clinical presentation and lab results he was diagnosed as primary adrenal insufficiency. The patient was discharged and started on prednisolone 5mg, omeprazole 40mg, calcium supplements, Baclofen 10mg, and pregabalin 75mg, and was counselled for regular follow-up. Patients with ALD should be evaluated for PAI for early diagnosis as it results in better prognosis of the disease.