Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by cerebellar atrophy and signal hyperintensity in the cerebellar cortex on MR T2-weighted images. We report a 2-year-old boy with psychomotor regression and hypotonia carrying a homozygous 5' splice site mutation in PLA2G6 gene, whose brain MRI revealed cerebellar atrophy with normal cerebellar cortex signal intensity.

Cyclosporin A in the treatment of juvenile chronic arthritis and childhood polymyositis-dermatomyositis. Results of a preliminary study.

In this study we have investigated the efficacy and safety of cyclosporin A (CyA) in a group of pediatric patients with juvenile chronic arthritis (JCA, 9 cases) and polymyositis-dermatomyositis (PM-DM, 3 cases). Of the 9 JCA patients, 7 had the systemic and 2 the polyarticular form of the disease. All of the patients received CyA after the failure of corticosteroids and/or cytotoxic drugs.