An lnteresting Presentation of X-linked Adrenoleukodystrophy: Recurrent Acute Encephalopathy

Abstract

Adrenoleukodystrophy is an X-linked peroxisomal disorder characterized with progressivedemyelination of central nervous system associated with adrenal cortical failure . The basic biochemical defect is the accumulation of very-longchain fatty acids (VLCFAs) in tissues, predominating in cerebral white matter and adrenal gland . lmpaired ability to oxidize peroxisomal VLCFAs is the explanation for this accumulation. Clinical expressionvaries considerably. Most affected boys are 5-1 O years of age. The fırst symptoms are usually an alteration in behaviour and poor school performance. Neurologic deterioration is then rapidly progressive and the patient ultimately goes to a vegetative state in approximately 2 years.In this article we report a case of X-linked adrenol eukodystrophy (X-ALD) showing a different clinical expression of the disease- recurrent encephalopathy.The boy was 8 years old and was diagnosed as X-ALD by cerebral magnetic resonance imaging (MRI) fındings and blood VLCFA analyses. We aim to attraet the attention to this extremely rare, interesting presentation and rapid progression of the disease, to emphasize that this entity should be taken into consideration in the differential diagnosis of encephalitis and to review the recent treatment modalities.