Hallervorden-Spatz syndrome: A rare cause of extrapyramidal manifestations

Abstract

Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. Here we present an unusual case of atypical Hallervorden-Spatz syndrome with onset during adolescence and rapid progression in a young female patient who showed the characteristic “eye of the tiger” appearance on magnetic resonance imaging [MRI] of brain. This reporting intends to highlight Hallervorden-Spatz syndrome as a rare cause of extrapyramidal manifestations and the interesting radiologic picture of the disease.

Change of the Writing-Hand: Unusual Manifestation of Hallervorden-Spatz Disease

“…HSD is a rare disease included under the broad category "neurodegeneration with brain iron accumulation" (NBIA) along with acaeruloplasminemia and neuroferritinopathy. The latter two may have similar neurological features, but can be distinguished from HSD by later onset during adulthood, MRI findings, laboratory tests (undetectable serum caeruloplasmin, low serum iron and elevated serum ferritin in acaeruloplasminemia / low serum ferritin in men and postmenopausal women in neuroferritinopathy), and genetic analysis (Tonekaboni & Mollamohammadi 2014, Vinod et al 2011). Initially, hyperintense areas are seen at the globus pallidus and substantia nigra.…”