Novel MRI and clinical findings in a boy with adenylosuccinate lyase deficiency

Abstract

Adenylosuccinate lyase (ADSL-E.C.4.3.2.2.) deficiency is a rare autosomal recessive metabolic disease of purines nucleotide synthesis affecting predominantly the central nervous system. We present a case of a 4.5-year-old boy with ADSL deficiency, developmental delay, hypotonia and epilepsy. In a series of three consecutive magnetic resonance examinations we observed not only reduced myelination and progressive atrophy of the brain that were reported before but also demyelination of previously normal white matter, correlating with clinical deterioration.