Cerebroretinal vasculopathy mimicking a brain tumor

Niedermayer, Isolde; Graf, Norbert; Schmidbauer, Joerg; Reiche, W.; Feiden, W.; Weil, S; Reifenberger, Guido; Dudel, C.; Yousry, TA; Schriever, S.; Noachtar, Soheyl

doi:10.1212/wnl.54.9.1878-a

Cited by 14 publications

(11 citation statements)

References 3 publications

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“…Interestingly, in contrast to HSA, disease penetrance seems to be very low in HRV since only 6,9 % of all HRV family members present retinopathy, while retinopathy is present in all our affected HSA patients. Vascular retinopathy was also reported in a French family [6] and in CRV [28], where it may occur together with focal cerebral calcifications [15,16]. Compared to HSA, these syndromes are less systemic in nature, although hepatic involvement has been suspected in two CRV patients [22,28].…”

Section: Discussionmentioning

confidence: 94%

“…Furthermore, the clinical symptoms in HERNS patients neither include prominent liver and gastrointestinal dysfunction nor myopathy or cardiopathy [7,21]. An autosomal recessive cerebroretinal vasculopathy with cerebral calcifications has recently been reported in a German sister pair [15,16,20]. This disorder, however, differs from HSA by the juvenile onset, the presence of microcephaly and the absence of systemic disease manifestations.…”

Section: Discussionmentioning

confidence: 99%

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Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

et al. 2008

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

et al. 2008

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“…Histopathological examination of brain lesions (which often form intracerebral masses mimicking a brain tumour on neuroimaging: Weil et al. 1999; Niedermayer et al. 2000a,b) reveal arterial wall thickening, perivascular fibrosis, thrombosis and occlusion of small vessels, with fibrinoid necrosis and adjacent marked oedema and astrogliosis.…”

Section: Hereditary Small‐vessel Diseasementioning

confidence: 99%

Retinal vascular image analysis as a potential screening tool for cerebrovascular disease: a rationale based on homology between cerebral and retinal microvasculatures

et al. 2005

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The retinal and cerebral microvasculatures share many morphological and physiological properties. Assessment of the cerebral microvasculature requires highly specialized and expensive techniques. The potential for using noninvasive clinical assessment of the retinal microvasculature as a marker of the state of the cerebrovasculature offers clear advantages, owing to the ease with which the retinal vasculature can be directly visualized in vivo and photographed due to its essential two-dimensional nature. The use of retinal digital image analysis is becoming increasingly common, and offers new techniques to analyse different aspects of retinal vascular topography, including retinal vascular widths, geometrical attributes at vessel bifurcations and vessel tracking. Being predominantly automated and objective, these techniques offer an exciting opportunity to study the potential to identify retinal microvascular abnormalities as markers of cerebrovascular pathology. In this review, we describe the anatomical and physiological homology between the retinal and cerebral microvasculatures. We review the evidence that retinal microvascular changes occur in cerebrovascular disease and review current retinal image analysis tools that may allow us to use different aspects of the retinal microvasculature as potential markers for the state of the cerebral microvasculature.

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“…An additional unrelated Ashkenazi-Jewish family was reported at the same time (5,22). Subsequently, a separate Ashkenazi-Jewish family (6) and two other families were reported (16,27). Historically, reports on this cluster of patients highlighted retinal and cerebral manifestations but less prominent systemic manifestations were noted clinically (Grand and Atkinson, unpub.…”

Section: Introduction History and Naming Conventionsmentioning

confidence: 99%

Neuropathology and Genetics of Cerebroretinal Vasculopathies

et al. 2014

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Cerebroretinal vasculopathy (CRV) and the related diseases hereditary endotheliopathy with retinopathy, neuropathy, and stroke (HERNS), hereditary vascular retinopathy (HVR) and hereditary systemic angiopathy (HSA) [subsequently combined as retinovasculopathy and cerebral leukodystrophy (RVCL)] are devastating autosomal-dominant disorders of early to middle-age onset presenting with a core constellation of neurologic and ophthalmologic findings. This family of diseases is linked by specific mutations targeting a core region of a gene. Frameshift mutations in the carboxyl-terminus of three prime exonuclease-1 (TREX1), the major mammalian 3' to 5' DNA exonuclease on chromosome 3p21.1-p21.3, result in a systemic vasculopathy that follows an approximately 5-year course leading to death secondary to progressive neurologic decline, with sometimes a more protracted course in HERNS. Neuropathological features include a fibrinoid vascular necrosis or thickened hyalinized vessels associated with white matter ischemia, necrosis and often striking dystrophic calcifications. Ultrastructural studies of the vessel walls often demonstrate unusual multilaminated basement membranes.

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Cerebroretinal vasculopathy mimicking a brain tumor

Cited by 14 publications

References 3 publications

Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

Hereditary Systemic Angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy

Retinal vascular image analysis as a potential screening tool for cerebrovascular disease: a rationale based on homology between cerebral and retinal microvasculatures

Neuropathology and Genetics of Cerebroretinal Vasculopathies

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