2008, Number 6
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Rev Mex Pediatr 2008; 75 (6)
A case of Hallervorden-Spatz disease
Quezada CG, Quezada CSE, Mercado PG, Durán BM
Language: Spanish
References: 13
Page: 274-276
PDF size: 100.70 Kb.
ABSTRACT
Hallervorden-Spatz disease is a metabolic disorder rare autosomal recessive. Characteristic of this disease are pigmentation degeneration of globus pallid, substantia nigra and red nucleus. In 1992 went described for first time in 5 students that presented clinical manifestations of bradypsychia, dysarthria, athaxic walk, spasticity, tremors, dystonic (digestive and respiratory), mental deterioration and visual alteration. Diagnostic realize in base to image study, magnetic resonance is the best. In this study we can to watch hypotenses images to basal nucleus level with central hyperintensity and “eye of tiger” denominated, that indicate iron deposit and neuro-axonal degeneration.
REFERENCES
Hallervorden J, Spatz H. Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globos pallidus und der Substantia nigra: Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren. Z Ges Neurol Psychiat 1922; 79: 254-302.
Shah J, Patkar D et al. Departments of Radiology, Dr. Balabhai Nanavati Hospital and King Edward Memorial Hospital, Mumbai, India.
Angelini C, Nardocci N, Rumi V. Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life. J Neuro 1992; 239(2): 417-423.
Dooling E, Schoene W, Richardson E. Hallervorden-Spatz syndrome. Arch Neurol 1974; 30: 70-83.
Coppeto JR, Lessell S. A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. Neurology 1990; 40: 1359-63.
Ambrosetto P, Nonni R, Bacel A. Late onset familial Hallervorden-Spatz disease. 1974; 30: 70-83.
Swaiman KF. Hallervorden-Spatz and brain iron metabolism. Arch Neurol 1991; 48: 1285-93.
Rouault TA. Iron on the brain. Nat Genet 2001; 28: 299-300.
Zhou B, Westaway SK, Levinson B, Johnson MA, Gitschier J, Hayflick SJ. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. Nat Genet 2001; 28: 345-9.
Savoiardo M, Haliday WC, Nardocci N. Hallervorden-Spatz disease: MR and pathological findings. 1993; 14: 155-162.
Sacks OW, Anguilar MJ, Brown WJ. Hallervorden-Spatz disease - Pathogenesis and place among the axonal dystrophies. Acta Neuropathol 1966; 6: 164-174.
Eldelberg D, Sotrel A, Joachim C. Adult onset Hallervorden-Spatz disease with neurofibrillary pathology. Brain 1987; 110(5): 993-1013.
Curtis ARJ, Fey C, Morris CM et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001; 28: 350-54.