Hallervorden Spatz Disease

Abstract

A nine-month-old infant presented with fever and loss of milestones. Examination revealed intermittent rigidity and dystonic movements. Magnetic resonance imaging (MRI) shows decreased signal intensity in globus pallidus and substantia nigra, indicative of iron deposition, suggesting Hallervorden Spatz Disease. The dopamine-neuromelanine system has been postulated to be the possible pathogenesis. Gene mapping has located the defect to be in the coding sequence of a gene called PANK-2. Prenatal diagnosis is possible. The case is reported because of its rarity and early presentation.

Hallervorden Spatz disease (Pantothenate Kinase associated Neurodegeneration): a rare case report

“…The characteristic MRI brain pattern in T2 weighted image is "eye of the tiger" sign. Only six cases have been reported from India, clinical diagnosis based on clinical and MRI characteristics [3][4][5][6]. We report a clinically and radiologically proven case of Hallervorden Spatz disease from southern India.…”

Hallervorden spatz disease: MR and pathological findings of a rare case

“…Only six cases have been reported from India, clinical diagnosis based on clinical and magnetic resonance imaging characteristics. [1][2][3][4] (Table 1). We report a pathologically proven case of HSD from India.…”