Znaczenie badania tomografii rezonansu magnetycznego mózgowia w diagnostyce deficytu kinazy pantotenowej (dawniej choroby Hallervordena-Spatza) : opis przypadku

Bibliogr. s. 120

Background: Panthotenate kinase deficiency is a rare metabolic disorder from the group of neuroaxonal dystrophy. It is characterized by symptoms of extrapiramidal system impairment, general dystonia, progressive gait disturbances, limbs rigidity, dyskinesias, choreoatetotic movements, dysarthria and progressive dementia. On the brain MRI, T2 - weighted images demonstrate typical, symmetrical "eye of the tiger" sign with hyperintensive signals from the central parts of the pallidum, surrounded by low signals in the pallidum and accompanied by hypointensity in substantia nigra resulting from iron deposition. Case report: We present a case of 13.5 year old boy with gait disturbances, increase muscles tone, dysartria, aggressive behavior and learning difficulties progressing from the early childhood. In the differential diagnosis a number of inborn errors of metabolism was excluded. Finding on the brain MRI in T2- weighted images typical picture of "eye of the tiger” led to a diagnosis of panthotenate kinase deficiency. In subsequent years of observation, despite attempts of baclofen and calcium panthotenate treatment, progression of pyramidal-extrapyramidal syndrome is observed. Conclusion: In children with symptoms of progressive extrapyramidal tract impairment, a sign of "eye of the tiger" with hyperintensive signals from the central parts of the pallidum, surrounded by low signals in the remaining part of the pallidum and accompanied by similar lesions in substantia nigra is typical for panthotenate kinase deficiency - a rare neurodegenerative disorder of central nervous system.