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Hallervorden Spatz disease
- Source :
- Indian journal of pediatrics. 70(6)
- Publication Year :
- 2003
-
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.
- Subjects :
- Dystonia
Pathology
medicine.medical_specialty
medicine.diagnostic_test
business.industry
Infant
Prenatal diagnosis
Magnetic resonance imaging
Substantia nigra
medicine.disease
Magnetic Resonance Imaging
Central nervous system disease
Pathogenesis
Consanguinity
Globus pallidus
nervous system
Gene mapping
Pediatrics, Perinatology and Child Health
Medicine
Humans
Female
business
Cognition Disorders
Pantothenate Kinase-Associated Neurodegeneration
Subjects
Details
- ISSN :
- 00195456
- Volume :
- 70
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Indian journal of pediatrics
- Accession number :
- edsair.doi.dedup.....1439fc66c951293158e9cbf2c0b2c8da