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 Sp...

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Bibliographic Details
Published inIndian journal of pediatrics Vol. 70; no. 6; pp. 513 - 514
Main Authors RAO, Chandrika, MURTHY, Venkata, HEGDE, Radhakrishna, ASHA, VISHWANATH
Format Journal Article
LanguageEnglish
Published Heidelberg Springer 01.06.2003
Subjects
Biological and medical sciences
Cognition Disorders - etiology
Consanguinity
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Dystonia - etiology
Female
Humans
Infant
Magnetic Resonance Imaging
Medical sciences
Neurology
Pantothenate Kinase-Associated Neurodegeneration - complications
Pantothenate Kinase-Associated Neurodegeneration - diagnosis
Pantothenate Kinase-Associated Neurodegeneration - genetics
Tropical medicine
Asia
India
Human
Nervous system diseases
Neuroregression
MRl
Infant
Cerebral disorder
Genetic disease
Infection
Case study
Iron deposition
Viral disease
Central nervous system disease
Dystonia
Hallervorden Spatz disease
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
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ISSN:0019-5456
0973-7693
DOI:10.1007/BF02723145