Radiological Evidence of Early Cerebral Microvascular Disease in Young Children with Fabry Disease

Cabrera-Salazar, Mario A.; O’Rourke, Erin; Charria-Ortiz, Gustavo; Barranger, John A.

doi:10.1016/j.jpeds.2005.03.004

Cited by 37 publications

(20 citation statements)

References 13 publications

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“…29,30 Finally, microvascular cerebral abnormalities were detected in 2 male Fabry patients during childhood (ages 8 and 11 years), when they showed no clinical evidence of renal or cardiac disease. 31 In future studies, detailed analyses of cerebral MRI data may provide valuable information for predicting which patients are at high risk for strokes.…”

Section: Sims Et Al Stroke In Fabry Disease 791mentioning

confidence: 99%

Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events

Sims

Politei

Banikazemi

et al. 2009

Stroke

311

242

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Background and Purpose-Stroke is a common and serious clinical manifestation of Fabry disease, an X-linked lysosomal storage disorder caused by deficiency of ␣-galactosidase A activity. This study was undertaken to better understand the natural history of cerebrovascular manifestations of Fabry disease. Methods-Data from 2446 patients in the Fabry Registry were analyzed to identify clinical characteristics of patients experiencing stroke during the natural history period (ie, before enzyme replacement therapy

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Section: Sims Et Al Stroke In Fabry Disease 791mentioning

confidence: 99%

Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events

Sims

Politei

Banikazemi

et al. 2009

Stroke

311

242

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“…Although a higher susceptibility of the posterior circulation has been proposed, WML present with an asymmetric widespread pattern generally indistinguishable from the pattern seen in age-related WML (Fig. 2) [21,[46][47][48]. WML in FD seem to progress [43,49], and may be associated with silent ischemic stroke and cognitive dysfunction, similar to age-related WML.…”

Section: Prognosis and Treatment Of Stroke In Fabry Diseasementioning

confidence: 87%

“…WML in FD occur typically at a younger age than in patients without FD, and evidence of microvascular involvement in pediatric cases has been demonstrated [46]. In a longitudinal MRI study of 50 patients with FD (mean age 33 years) 52% had WML.…”

Section: Prognosis and Treatment Of Stroke In Fabry Diseasementioning

confidence: 99%

Stroke and Fabry disease

Viana-Baptista

2011

J Neurol

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Fabry disease (FD) is a rare inherited disorder of the metabolism, associated with renal, cardiac, and cerebrovascular complications. Ischemic and hemorrhagic stroke in FD present with a similar proportion to that observed in the general population, but usually at an early age. Ischemic stroke may result from cardiac embolism, large and small vessel disease, while hemorrhagic stroke is usually attributed to hypertension. Deposition of glycosphingolipids in endothelial cells results in a specific FD vasculopathy that contributes to the different vascular phenotypes. Neuroimaging features of cerebrovascular involvement in FD include white matter lesions, dolichoectasia, and the "pulvinar sign", a T1 MRI hyperintensity of the posterior thalamus. The role of enzymatic replacement therapy in the prevention of stroke remains to be established, but its utilization should be considered in FD stroke patients, for prevention of renal and cardiac complications, together with general prevention measures. Enzymatic replacement therapy increased our awareness of FD, underlining the importance of incomplete phenotypes in specific settings such as stroke. An overview of studies on the prevalence of FD in stroke patients is presented. Available data suggest that prevalence of FD is similar to some of the rare causes of stroke usually considered, and that classic features of the disease may be absent or more subtle. Moreover, FD should be considered in both cryptogenic and all-cause stroke. The role of FD in stroke on a multifactorial basis and the identification of a putative "stroke variant" are questions that need to be further elucidated in future studies.

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“…Diferencinė diagnostika: Fabry ligos sukeltą skausmą dažniausiai lydi karščiavimas ir kraujo tyrimuose pastebimas padidėjęs eritrocitų nusėdimo greitis, todėl dažnai klaidingai diagnozuojamas reumatoidinis artritas, jaunatvinis artritas, sisteminė raudonoji vilkligė, "augimo" skausmai [25]. Suaugusiesiems diferencijuojama su išsėtine skleroze.…”

Section: Diagnostikaunclassified

Fabry Liga: Klinikinis Atvejis Ir Literatūros Apžvalga

Kubiliūtė¹,

Gruodytė²,

Čerkauskaitė

et al. 2017

Medicinos Teorija Ir Praktika

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Reikšminiai žodžiai: Fabry liga, lizosomų kaupimo liga, lėtinė inkstų liga, pakaitinė fermentų terapija. Fabry liga – tai reta su X chromosoma paveldima liga, lemianti lizosomų fermento alfa-galaktozidazės A trūkumą, dėl kurio įvairiose kūno ląstelėse kaupiasi nesuskaldyti glikosfingolipidai. Tai antra pagal dažnumą lizosomų kaupimo liga, pasireiškianti 1:40 000–1:117 000 vyrų. Liga progresuoja pažeisdama daugelį organų: inkstus, širdį, smegenis, akis, todėl reikalingas daugelio sričių specialistų įvertinimas ir pastabumas. Progresuojantis substratų atsidėjimas audinių ląstelėse pamažu blogina organo veiklą iki visiško veiklos nepakankamumo. Ankstyva ligos diagnozė ir laiku pradėtas gydymas labai svarbus aspektas siekiant suvaldyti ligą. Specifinis gydymas pakaitine fermentų terapija gali užkirsti kelią komplikacijoms atsirasti ar sulėtinti ligos progresavimą. Lietuvoje nustatyta 14 šios ligos atvejų, keturiems taikoma pakaitinė fermentų terapija. Norime pristatyti vieną naujausių ligos atvejų, nustatytų Vilniaus miesto klinikinės ligoninės Nefrologijos skyriuje. 32 metų vyrą nespecifiniai simptomai vargino keletą metų, tačiau radus pakitimų šlapime, buvo įtarta genetinė nefropatija, todėl atlikta inksto biopsija. Morfologiniai pakitimai inkstų biopsijoje buvo panašūs į Fabry ligą, todėl pacientas išsiųstas į Vilniaus universiteto Santariškių klinikų Retų ligų koordinavimo centrą. Atlikus papildomus genetinius tyrimus, pacientui patvirtinta Fabry liga, paskirta pakaitinė fermentų terapija Algalzidaze alfa.

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Radiological Evidence of Early Cerebral Microvascular Disease in Young Children with Fabry Disease

Cited by 37 publications

References 13 publications

Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events

Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events

Stroke and Fabry disease

Fabry Liga: Klinikinis Atvejis Ir Literatūros Apžvalga

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