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 16 publications

(13 citation statements)

References 34 publications

(37 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…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

View full text Add to dashboard Cite

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

show abstract

Section: Poor Health Diagnosismentioning

confidence: 99%

Patient Safety: A Deep Concern to Caregivers

Mohiuddin

2019

Innov Pharm

View full text Add to dashboard Cite

show abstract

“…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

View full text Add to dashboard Cite

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.

show abstract

“…It is well-known that MS phenotype can share some peculiarities with several single-gene disorders, specifically, the presence of white matter lesions detectable by MRI (Weisfeld-Adams, Katz Sand, Honce, & Lublin, 2015). Episodes of misdiagnosis have been reported, above all with Fabry's disease (Colomba et al, 2018;Yau, Fabis-Pedrini, & Kermode, 2017) and adult-type metachromatic leukodystrophy (Chebel et al, 2009). A diagnostic problematic exists in particular with late manifestation of symptoms because of rare genetic diseases, during adolescence.…”

Section: Introductionmentioning

confidence: 99%

The role of Sphingolipids in myelination and myelin stability and their involvement in childhood and adult demyelinating disorders

Giussani¹,

Prinetti²,

Tringali³

2020

Journal of Neurochemistry

View full text Add to dashboard Cite

Demyelinating diseases affect both adults and children and encompass a large spectrum of disorders caused by different mechanisms including abnormal autoimmune or inflammatory responses, viral infections, metabolic alterations, genetic defects, etc. In adults, multiple sclerosis (MS) represents the most common demyelinating disease affecting the central nervous system (CNS). Its prevalence is about 50-300 per 100,000 people (Thompson, Baranzini, Geurts, Hemmer, & Ciccarelli, 2018). Despite the great efforts in research devoted to this field, the aetiology of the disease is intricate and is not still fully understood in all its relevant facets.

show abstract

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

Cited by 16 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

The role of Sphingolipids in myelination and myelin stability and their involvement in childhood and adult demyelinating disorders

Contact Info

Product

Resources

About