Adult-Onset Adrenoleukodystrophy Presenting With Atypical Location of White Matter Lesions. (6th December 2022)

• Record Type: Journal Article
• Authors: Sehrawat, Priyanka; Gupta, Anu; Garg, Ajay; Vishnu, Venugopalan; Rajan, Roopa; Bhatia, Rohit; Singh, Mamta Bhushan; Srivastava, M.V. Padma
• Is Part Of: Neurology. Volume 99:Number 23(2022)
• Page Start: 1051
• Page End: 1052
• Publication Date: 2022-12-06
• Subjects: Neurology -- Periodicals; Neurology -- Periodicals; Neurologie -- Périodiques; 616.8
• DOI: 10.1212/WNL.0000000000201437
• Languages: English
• ISSNs: 0028-3878

Abstract

Abstract : A 49 -year-old man presented with progressive limb stiffness, slowness, cognitive impairment, and urinary disturbance over 2 years. An examination revealed skin hyperpigmentation, apathy, attention deficit, spastic dysarthria, symmetric upper limb rigidity, lower limb spasticity, and hyperreflexia. An MRI of the brain is shown in Figure. Serum cortisol levels confirmed adrenal insufficiency. Plasma very long-chain fatty acids were elevated. A 5'splice site pathogenic variant in ABCD1(C.900+2T>A) confirmed adrenoleukodystrophy (ALD).