Rapidly progressive cerebral form of X-linked adrenoleukodystrophy

Abstract

Infantile cerebral X-linked adrenoleukodystrophy is a rapidly progressive disease caused by extensive infl ammatory demyelination of the central nervous system. A seven-year-old boy with rapidly progressive cerebral form of X-linked adrenoleukodystrophy, characterized by demyelination of the brain, adrenal insuffi ciency, epilepsy, cognitive and psychiatric disorders, and blindness is presented. The patient’s uncle suff ers from adrenomyelodystrophy, while the patient’s mother and some other female members of his mother’s family are carriers of the gene for X-linked adrenoleukodystrophy. The boy was born from third, uneventful pregnancy and delivery; his early psychomotor development was normal. At the age of 6.5 years, after chickenpox with a severe clinical course, psychomotor disorders were observed including attention defi cit, slowness and impaired fi ne motor skills. Progression of neurologic disorders had occurred with each new febrile state. Magnetic resonance imaging with contrast showed changes of the occipital white matter with characteristic borderline imbibition. Analysis of long-chain fatty acids confi rmed increased accumulation of hexacosanoic (C26) and tetracosanoic (C24) acids, as well as an increased ratio of C24/C22 and C26/C22. Genetic analysis confi rmed the patient to be hemizygote for the known p.Gly512Ser mutation in exon 6 of the ABCD1 gene. This article describes a case where the clinical manifestation of the disease induced by chickenpox showed a more severe clinical course, in which the progression of neurologic disorders occurred with each consecutive febrile state. In this patient, the disease progressed rapidly to death only ten months after the fi rst symptoms.