Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs

Colomba, Paolo; Zizzo, Carmela; Alessandro, Riccardo; Cammarata, Giuseppe; Scalia, Simone; Giordano, Antonello; Pieroni, Maurizio; Sicurella, Luigi; Amico, Luisa; Duro, Giovanni

doi:10.18632/oncotarget.23970

Cited by 14 publications

(12 citation statements)

References 34 publications

(37 reference statements)

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“…Some research suggests that 40% of people in the vegetative state are misdiagnosed [ 98 ]. Because the clinical features of FD overlap with those of other disorders, errors and delays in diagnosis are common [ 99 ]. Despite being an extensively studied condition, the causes of ADHD remain poorly understood and substantial in children, controversy exists regarding its correct diagnosis [ 100 ].…”

Section: Poor Health Diagnosismentioning

confidence: 99%

Patient Safety: A Deep Concern to Caregivers

Mohiuddin

2019

Innov Pharm

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Patient safety is a global concern and is the most important domains of health-care quality. Medical error is a major patient safety concern, causing increase in health-care cost due to mortality, morbidity, or prolonged hospital stay. A definition for patient safety has emerged from the health care quality movement that is equally abstract, with various approaches to the more concrete essential components. Patient safety was defined by the IOM as “the prevention of harm to patients.” Emphasis is placed on the system of care delivery that prevents errors; learns from the errors that do occur; and is built on a culture of safety that involves health care professionals, organizations, and patients. Patient safety culture is a complex phenomenon. Patient safety culture assessments, required by international accreditation organizations, allow healthcare organizations to obtain a clear view of the patient safety aspects requiring urgent attention, identify the strengths and weaknesses of their safety culture, help care giving units identify their existing patient safety problems, and benchmark their scores with other hospitals. Article Type: Commentary

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Section: Poor Health Diagnosismentioning

confidence: 99%

Patient Safety: A Deep Concern to Caregivers

Mohiuddin

2019

Innov Pharm

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“…However, MRI findings can be very heterogeneous, with an overall poor global diagnostic accuracy both in terms of specificity and sensitivity. For this reason, when evaluating brain images of FD patients, it is mandatory not only to have a good knowledge of all the radiological findings present in this condition but also an accurate evaluation of both systemic organ involvement and familial history, which is known to be useful in the diagnostic workup of patients with suspected FD [ 12 ]. A summary of the major conventional imaging findings in FD is shown in Table 1 .…”

Section: Conventional 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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“…Due to the heterogeneity of clinical and radiological presentations in MS, FD has been recently proposed as a possible under‐recognized diagnosis in some MS cases (Böttcher et al, ). Although a careful neurological examination, along with an accurate evaluation of systemic involvement, is undoubtedly central to achieve a correct diagnosis (Colomba et al, ), neuroimaging plays an essential role in the diagnostic workup of these patients.…”

Section: Discussionmentioning

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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Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs

Cited by 14 publications

References 34 publications

Patient Safety: A Deep Concern to Caregivers

Patient Safety: A Deep Concern to Caregivers

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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