Hallervorden Spatz disease.
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.
Rao
Chandrika
C
Department of Pediatrics, M.S. Ramaiah Medical College and Hospital, Mathikere, Bangalore, India. docrao2000@yahoo.com
Murthy
Venkata
V
Hegde
Radhakrishna
R
Asha
Vishwanath
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