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

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

Dynamics of acute phase of ischemic stroke and initial computed tomography findings

Surprisingly, there is a small number of papers on comparison of ischemic stroke course within its acute phase with initial stage of nervous tissue, assessed with neuroimaging. The aim of the study was to determine whether the dynamic of acute phase of ischemic stroke depends on earlier lesion of nervous tissue, including ischemic foci probably developed before present stroke, evaluated by computed tomography (CT) examination, and especially, whether the early CT changes might be a prognostic factor of the course of stroke in its acute phase. The prospective study were done on 126 patients with ischemic stroke, divided in two groups: I - 69 individuals with reversible ischemic neurological deficit (RIND) and II - 57 patients with complete stroke (CS) or progressive stroke (PS). It was found that probability of worse clinical course of stroke becomes involved per se by prior vascular lesion of the brain, visible on CT scans, including ischemic foci probably developed before the actual stroke. It also turned out that the size of ischemic foci on CT, and first of all, their the longest dimension appears to be the important risk factor of worse course of acute phase of ischemic stroke. The number of ischemic foci on CT scans does not involve the clinical course of stroke.Zaskakująco mało prac dotyczy porównania różnych form dynamiki udaru niedokrwiennego w ostrej fazie epizodu naczyniowego z wyjściowym stanem tkanki nerwowej, ocenianym w badaniach neuroobrazowych. Celem pracy była próba odpowiedzi, czy dynamika ostrej fazy udaru niedokrwiennego zależy od wcześniejszego, w tym prawdopodobnie pochodzącego sprzed obecnego udaru, naczyniopochodnego uszkodzenia tkanki nerwowej mózgowia, ocenianego za pomocą tomografii komputerowej (CT), a zwłaszcza, czy obraz tych zmian można wykorzystać jako czynnik prognostyczny dalszego przebiegu ostrej fazy udaru. W badaniach prospektywnych oceniano 126 chorych. Grupę I stanowiło 69 pacjentów z udarem odwracalnym (RIND), grupę II - 57 osób z udarem dokonanym (CS) lub postępującym (PS). Badania wykazały, że ryzyko gorszego przebiegu udaru wiąże się z samą obecnością ognisk niedokrwiennych, powstałych zarówno podczas obecnego epizodu niedokrwiennego, jak i najprawdopodobniej przed nim. Ponadto stwierdzono, że wielkość ognisk niedokrwiennych w CT, a zwłaszcza ich największy wymiar, jest istotnym czynnikiem ryzyka gorszego przebiegu ostrej fazy udaru. Liczba ognisk niedokrwiennych nie wpływa natomiast na dynamikę ostrej fazy udaru