Redefining the Pulvinar Sign in Fabry Disease

Cocozza, Sirio; Russo, Camilla; Pisani, Antonio; Olivo, Gaia; Riccio, Eleonora; Cervo, Amedeo; Pontillo, Giuseppe; Feriozzi, Sandro; Veroux, Massimiliano; Battaglia, Yuri; Concolino, Daniela; Pieruzzi, Federico; Mignani, Renzo; Borrelli, Pasquale; Imbriaco, Massimo; Brunetti, Arturo; Tedeschi, Enrico; Palma, Giuseppe

doi:10.3174/ajnr.a5420

Cited by 26 publications

(33 citation statements)

References 40 publications

(59 reference statements)

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“…All patients with a GLA mutation underwent a complete genetic screening extended to relatives, an evaluation of kidney functionality and the following investigations: Cardiovascular evaluation, including echocardiography, nailfold videocapillaroscopy with post-occlusive reactive hyperemia, color doppler ultrasound of carotid arteries and magnetic resonance imaging (T1 mapping) of heart; Nephrological evaluation, including doppler ultrasound of kidney and evaluation of the estimated glomerular filtration rate by using the Chronic Kidney Disease Epidemiology Collaboration creatinine equation, microalbuminuria and proteinuria [ 22 ]; Neurologic investigation, including trans-cranial Doppler ultrasound and magnetic resonance imaging of the brain (T2 mapping) [ 23 , 24 ]; Ophthalmologic investigation, including confocal microscopy (Confoscan 4, Fortune Technologies, Italy); Dermatologic examination, including dermatoscopy; Gastroenterological and endocrinological examinations; Pneumological examination; Psychological and psychiatric examinations. …”

Section: Methodsmentioning

confidence: 99%

Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team

et al. 2020

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Fabry disease (FD) is a rare cause of end-stage renal disease requiring kidney transplantation. Data on the incidence of unrecognized FD in kidney transplant recipients are scarce and probably underestimated. This study evaluated the incidence of FD in a population of kidney recipients, with a particular focus of the multidisciplinary approach for an early clinical assessment and therapeutic approach. Two hundred sixty-five kidney transplant recipients were screened with a genetic analysis for α-galactosidase A (GLA) mutation, with measurement of α-Gal A enzyme activity and Lyso Gb3 levels. Screening was also extended to relatives of affected patients. Seven patients (2.6%) had a GLA mutation. Two patients had a classic form of FD with Fabry nephropathy. Among the relatives, 15 subjects had a GLA mutation, and two had a Fabry nephropathy. The clinical and diagnostic assessment was completed after a median of 3.2 months, and mean time from diagnosis to treatment was 4.6 months. This study reported a high incidence of unrecognized GLA mutations in kidney transplant recipients. Evaluation and management by a multidisciplinary team allowed for an early diagnosis and treatment, and this would result in a delay in the progression of the disease and, finally, in better long-term outcomes.

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Section: Methodsmentioning

confidence: 99%

Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team

et al. 2020

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“…Originally thought to be pathognomonic of the disease, its role has been widely reconsidered in recent years. Its real incidence has been recently settled in around 3% of FD cases, with a clear predilection for males with impaired renal function [ 29 ], while a positive pulvinar sign has been only anecdotally reported in female FD patients [ 58 ]. In this minority of cases, the pulvinar sign could be interpreted as a neuroradiological epiphenomenon of a long-term accumulation of undegraded metabolites, whose systemic manifestations gradually appear during the years.…”

Section: Conventional Imagingmentioning

confidence: 99%

“…The use of qMRI techniques allows for a quantitative assessment of brain tissue relaxometry parameters and magnetic susceptibility, measuring physical parameters intrinsically related to tissue microstructure and allowing for an accurate in vivo characterisation of brain tissue pathology [ 88 – 90 ]. Although very promising, a qMRI approach has only been used in two studies in FD, exploring the relevance and the pathological substrate of the pulvinar sign [ 29 ] and the possible iron accumulation in the striatonigral pathway of these patients [ 75 ]. However, considering the feasibility of this technique for subtle quantitative evaluations, qMRI should be strongly considered in future studies aimed to detect not only markers of neurodegeneration but also the presence of possible glycosphingolipid accumulation in the brain, providing a tool for monitoring disease progression and the treatment’s efficacy.…”

Section: Advanced Imagingmentioning

confidence: 99%

Neuroimaging in Fabry disease: current knowledge and future directions

et al. 2018

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Fabry disease (FD) is a rare X-linked disorder characterised by abnormal progressive lysosomal deposition of globotriaosylceramide in a large variety of cell types. The central nervous system (CNS) is often involved in FD, with a wide spectrum of manifestations ranging from mild symptoms to more severe courses related to acute cerebrovascular events. In this review we present the current knowledge on brain imaging for this condition, with a comprehensive and critical description of its most common neuroradiological imaging findings. Moreover, we report results from studies that investigated brain physiopathology underlying this disorder by using advanced imaging techniques, suggesting possible future directions to further explore CNS involvement in FD patients.Teaching Points • Conventional neuroradiological findings in FD are aspecific. • White matter hyperintensities represent the more consistent brain imaging feature of FD • Abnormalities of the vasculature wall of posterior circulation are also consistent features. • The pulvinar sign is not reliable as a finding pathognomonic for FD. • Advanced imaging techniques have increased our knowledge about brain involvement in FD.

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“…According to previous reports (Cocozza, Olivo, et al, ; Cocozza, Russo, et al, ), a modified Fazekas score (Fazekas et al, ) was used to identify the presence of WMLs, evaluating two different locations (periventricular and deep hemispheric white matter), each ranging from 0 (indicating absence of WMLs) to 3 (suggesting high WMLs load), with a total score that ranged from 0 to 6.…”

Section: Methodsmentioning

confidence: 99%

Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis

et al. 2018

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Background and PurposeMultiple Sclerosis (MS) has been proposed as a possible differential diagnosis with Fabry Disease (FD). We evaluated the incidence of infratentorial lesions in FD patients, investigating whether their presence could help in differentiating these two conditions. We explored the diagnostic accuracy of this sign alone and in combination to the involvement of corpus callosum (CC).MethodsWhite Matter lesions were retrospectively evaluated on FLAIR images available from 136 MS and 144 FD patients. Infratentorial involvement was assessed considering the whole cerebellum, and the part of the brainstem included between the occipital foramen and the upper edge of the red nucleus. Furthermore, the presence of callosal lesions was also recorded, evaluating the portion of CC included between the two external walls of the lateral ventricles.ResultsInfratentorial involvement was detectable in 119/136 (87.5%) MS patients, while it was present in only 17/144 (11.8%) FD patients. When the diagnostic performance of a positive infratentorial involvement was evaluated in combination with the presence of CC lesions, a specificity of 97%, with a positive predictive value of 96% was reached.ConclusionsWe concluded that the absence of infratentorial lesions, especially when combined to the evaluation of other typical imaging features, can help in the differential diagnosis between MS and FD.

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Redefining the Pulvinar Sign in Fabry Disease

Cited by 26 publications

References 40 publications

Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team

Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team

Neuroimaging in Fabry disease: current knowledge and future directions

Absence of infratentorial lesions in Fabry disease contributes to differential diagnosis with multiple sclerosis

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