title: 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.
authors.affiliation: Department of Pediatrics, M.S. Ramaiah Medical College and Hospital, Mathikere, Bangalore, India. docrao2000@yahoo.com
authors.forename: Chandrika
authors.initials: C
authors.lastname: Rao
authors.forename: Venkata
authors.initials: V
authors.lastname: Murthy
authors.forename: Radhakrishna
authors.initials: R
authors.lastname: Hegde
authors.lastname: Asha
authors.lastname: Vishwanath
mesh_terms: D003072:Cognition Disorders / Q000209:etiology; D003241:Consanguinity; D004421:Dystonia / Q000209:etiology; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000150:complications / Q000175:diagnosis* / Q000235:genetics