Un caso inusual de oclusión de rama arterial retiniana: posible variante del síndrome de Sneddon / Unusual case of retinal arterial branch occlusion: Possible variant of Sneddon syndrome

El síndrome de Sneddon (SS) se manifiesta por múltiples accidentes cerebrovasculares y livedo reticularis. La vasculopatía livedoide (VL) se caracteriza por una larga historia de ulceración de pies y piernas y una histopatología que indica un proceso trombótico. Se describe una oclusión de rama arterial retiniana en un varón de 52años con VL. No presentó anomalías de laboratorio perceptibles, como anticuerpos antifosfolípidos, ni antecedentes de accidentes cerebrovasculares. La oclusión de arteria retiniana acompañada de VL podría ser una variante del síndrome de Sneddon. Con angiografía por tomografía de coherencia óptica se observó en la mácula en el ojo asintomático una reducción de las capas vasculares, lo que indica cambios microvasculares localizados como marcador evolutivo en la patogénesis del SS.(AU)

Sneddon's syndrome (SS) manifests through multiple strokes and livedo reticularis. Livedoid vasculopathy (LV) is characterized by a long history of foot and leg ulceration and histopathology indicating a thrombotic process. Arterial retinal branch occlusion is described in a 52-year-old male with LV. He did not present noticeable laboratory abnormalities, such as antiphospholipid antibodies, or a history of strokes. Retinal artery occlusion accompanied by LV could be a variant of Sneddon's syndrome. Optical coherence tomography angiography revealed a reduction in the macula's vascular layers in the asymptomatic eye, indicating localized microvascular changes as an evolving marker in the pathogenesis of SS.(AU)

Antiphospholipid antibody positive Sneddon syndrome: a case report.

Sneddon syndrome may present with neurological findings such as transient ischemic stroke, strokes, seizures and/or headaches. However, a purplish, spider web-like skin finding called livedo reticularis may accompany the skin and precede neurological findings. Sneddon syndrome often affects women. Since it is vasculopathy affecting small and medium vessels, other organ findings may accompany. We present a 44-year-old Sneddon syndrome patient with monoparesis in her left lower extremity, livedo reticularis on her back and legs, and hypertension.

Unusual case of retinal arterial branch occlusion: possible variant of Sneddon syndrome.

Sneddon's syndrome (SS) manifests through multiple strokes and livedo reticularis. Livedoid vasculopathy (VL) is characterized by a long history of foot and leg ulceration and histopathology indicating a thrombotic process. Arterial retinal branch occlusion is described in a 52-year-old male with VL. He did not present noticeable laboratory abnormalities, such as antiphospholipid antibodies, or a history of strokes. Retinal artery occlusion accompanied by VL could be a variant of Sneddon's syndrome. Optical coherence tomography angiography revealed a reduction in the macula's vascular layers in the asymptomatic eye, indicating localized microvascular changes as an evolving marker in the pathogenesis of SS.

Obstructive valve thrombosis after transcatheter aortic valve replacement (TAVR) in Sneddon syndrome without antiphospholipid antibodies.

We study a case of early obstructive leaflet thrombosis following a transcatheter aortic valve replacement (TAVR) in a woman in her 50s with a history of Sneddon syndrome treated by antiplatelet therapy. The thrombosis regressed following the use of vitamin K antagonists (VKA) for 6 weeks. Subacute TAVR leaflet thrombosis reappeared after discontinuation of VKA use. The main takeaways of this study were the detection of high-risk patients that could benefit from systematic post-TAVR anticoagulation and the early diagnosis of obstructive leaflet thrombosis associated with elevated transvalvular gradient, whose management differs from that of subclinical leaflet thrombosis.

Antiphospholipid-negative Sneddon's syndrome: A comprehensive overview of a rare entity.

The term Sneddon's syndrome (SS) has been used since 1965 to describe a vasculopathy characterized by a combination of cerebrovascular disease with livedo racemosa. SS may be classified as antiphospholipid+ (aPL+) or antiphospholipid- (aPL-). Little is known about aPL- SS; in this review we describe the epidemiology and pathogenesis of aPL- SS, as well as the clinical and histologic features. We discuss recent findings in terms of neurologic and cardiac involvement. Moreover, differential diagnoses of conditions that may present with both livedo racemosa and stroke are discussed. Finally, we discuss real-life practical issues such as the initial investigations to be performed, long-term follow-up, and therapeutic management of aPL- SS patients.

The diagnostic value of skin biopsies in Sneddon syndrome.

BACKGROUND: Sneddon syndrome (SS) is defined by widespread livedo reticularis (LR) and stroke. There is no single diagnostic test for SS and diagnosis can be solely based on clinical features. This cross-sectional case-control study aimed to determine the diagnostic value of skin biopsies in SS patients. MATERIALS AND METHODS: We studied skin biopsies from patients with a clinical diagnosis of SS or isolated LR. We also studied controls with vitiligo or normal skin. Biopsies were considered standardized if 3 biopsies were taken from the white centre of the livedo and reached until the dermis-subcutis border. Biopsies were scored for features of an occlusive microangiopathy without knowledge of the clinical features. Sensitivity and specificity of the biopsy findings were calculated with the clinical criteria as the reference standard. RESULTS: We included 34 SS patients, 14 isolated LR patients and 41 control patients. Biopsies of 17 patients with SS (50%), 4 with isolated LR (31%) and 10 control patients (24%) showed at least one artery in the deep dermis with a thickened vessel wall combined with recanalization or neovascularization (sensitivity 50% and specificity 69% with LR as reference). Standardized biopsies increased the sensitivity to 70%. In a post hoc analysis the combination of an occlusive microangiopathy and the presence of a livedo pattern in the superficial dermis increased the specificity to 92%. CONCLUSIONS: Standardized skin biopsies can support the clinical diagnosis of SS. An occlusive microangiopathy as the only positive criterion for the diagnosis of SS had insufficient specificity for a definite diagnosis.

Síndrome de Sneddon não relacionada a anticorpos antifosfolípides / Sneddon's syndrome not related to antiphospholipid antibodies

RESUMO A Síndrome de Sneddon é uma vasculopatia trombótica não inflamatória rara, caracterizada por livedo reticular generalizado e eventos cerebrovasculares isquêmicos recorrentes. Sua forma idiopática, ou seja, aquela não relacionada a positividade de anticorpos ou presença de outras doenças, é a mais incomum. As inúmeras manifestações que podem se relacionar à síndrome refletem a heterogeneidade dos casos, ressaltando a importância da investigação clínica e seguimento desses pacientes. Relatamos um caso de Síndrome de Sneddon idiopática em paciente feminina a qual apresentou livedo reticular generalizado como manifestação inicial, seguido de acidentes vasculares cerebrais. PALAVRAS-CHAVE: Síndrome de Sneddon, anticorpos antifosfolípides, livedo reticular

ABSTRACT Sneddon Syndrome is a rare non-inflammatory thrombotic vasculopathy characterized by generalized reticular livedo and recurrent ischemic cerebrovascular events. Its idiopathic form, that is, that not related to antibody positivity or the presence of other diseases, is the most uncommon. The numerous manifestations that may be related to the syndrome reflect the heterogeneity of cases, highlighting the importance of clinical investigation and follow-up of these patients. We report a case of idiopathic Sneddon's Syndrome in a female patient who presented generalized livedo reticularis as the initial manifestation, followed by cerebrovascular accidents. KEYWORDS: Sneddon's Syndrome, antiphospholipid antibodies, livedo reticularis

Afectación renal en el síndrome de Sneddon / Renal involvement in Sneddon síndrome

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Sneddon syndrome: a comprehensive clinical review of 53 patients.

BACKGROUND: The presence of livedo reticularis in patients with ischaemic stroke is associated with Sneddon syndrome (SS). Our objective was to present the clinical features of SS patients and to assess the role of antiphospholipid antibodies (APL). METHODS: Consecutive patients, diagnosed with SS between 1996 and 2017, were retrospectively reviewed for their demographic, neurological, dermatological, cardiac and extracerebral vascular features. Diagnosis of SS was made only if other causes of stroke were excluded. Patients with and without APL were included and compared for their clinical features. RESULTS: Fifty-three patients (79% female) were included, of whom 14 patients were APL-positive. Median age at diagnosis was 40 years. Approximately 60% of the patients had ≥ 3 cardiovascular risk factors. There were 129 previous vascular events (66 ischaemic strokes, 62 TIAs and 1 amaurosis fugax) during a median period of 2 years between the first event and diagnosis of SS. Skin biopsy was positive for SS in 29 patients (67%), mostly showing a thickened vessel wall with neovascularization in the deep dermis. After a median follow-up of 28 months, 4 patients, either on antiplatelet or oral anticoagulation therapy, had a recurrent stroke. There were few statistically significant differences between APL-negative and APL-positive patients, including the number of vascular events before diagnosis. CONCLUSIONS: SS predominantly affects young women with a relatively large number of cardiovascular risk factors. Clinical features of SS are comparable across different studies. We found no differences in the main clinical features between APL-positive and APL-negative patients.

Three cases of Sneddon syndrome: A comparison with lymphocytic thrombophilic arteritis.

Lymphocytic thrombophilic arteritis and Sneddon syndrome can have very similar clinical presentations with chronic persistent widespread blanchable livedo racemosa. Lymphocytic thrombophilic arteritis has only recently been described and generally is associated with a benign prognosis. Sneddon syndrome is associated with the development of multiple cerebrovascular accidents and progressive neurological impairment. We present three cases of Sneddon syndrome and compare them with lymphocytic thrombophilic arteritis to identify patients at risk of neurological events.

Sneddon syndrome: under diagnosed disease, complex clinical manifestations and challenging diagnosis. A case-based review.

Herein, we report a case-based review of the Sneddon Syndrome (SS), a rare chronic condition which affects small to medium blood vessels. It is known by its skin presentation, livedo racemosa (LRC), and the relapsing cerebrovascular events. However, neither LRC nor cerebrovascular events are exclusive to SS. A 36-year-old female with history of mitral valve prolapse, hypothyroidism, Raynaud phenomenon, hypertension, migraines, and four episodes of transient ischemic attacks (TIA), presented to our clinic with new skin findings, suggestive of LRC. Based on her previous history, current presentation and skin biopsy results, she was diagnosed with SS secondary to antiphospholipid syndrome. The present report illustrates the difficulty in recognizing SS and how the heterogeneity of the disease may be contributing to the difficulty making a distinct diagnosis.

Characteristic imaging features of neurovascular involvement in primary Sneddon's syndrome: an analysis of 12 cases.

OBJECTIVE: Sneddon's syndrome is a cerebrocutaneous non-inflammatory progressive distal arteriopathy, characterized by livedo racemosa, stroke, and neuropsychiatric symptoms. Our aim was to highlight the characteristic neuroimaging features of Sneddon's syndrome that might be helpful to clinicians in timely diagnosis of this entity. METHODS: Twelve patients (median age 49 years, 11 female) with primary Sneddon's syndrome, diagnosed in last 10 years, were analyzed from the perspective of magnetic resonance imaging (MRI) features. In addition, a novel pseudoangiomatosis score was defined for grading angiographic abnormalities (range: 0 to 6). RESULTS: Median interval from the onset of neurological symptoms to diagnosis was 6 years. Presentation was with acute stroke in 5, seizures in 3, dementia/speech problems in 2, seizures plus cognitive dysfunction in 1, and chronic progressive hemiparesis in 1. All patients had a typical lesion pattern on MRI. This included multiple (median 3) cortical-subcortical supratentorial and cerebellar non-territorial infarcts, accompanied by multifocal cerebral atrophy. Of note, large territorial infarcts due to cerebral parent artery occlusion, an embolic pattern with multi-territorial involvement on diffusion-weighted imaging, small vessel disease features like severe white matter involvement or lacunar infarcts, and cerebral hemorrhage in the absence of anticoagulation were not observed. MRI lesion severity was not correlated with angiographic arteriopathy severity, clinical stage, or presentation symptoms. CONCLUSION: Sneddon's syndrome is characterized by highly typical clinico-radiological features. Brain MRI has diagnostic value. By knowing the characteristics of the syndrome, misdiagnosis and potentially harmful treatment can be prevented in this entity that might pose a diagnostic challenge.

Clinical and Histopathologic Characteristics of the Main Causes of Vascular Occusion - Part II: Coagulation Disorders, Emboli, and Other. / Dermatopatología de la oclusión intraluminal vascular: parteII (coagulopatías, émbolos y miscelánea).

Vascular occlusion has multiple, diverse clinical manifestations, some of which can have grave consequences for patients. It also has a wide variety of causes, including thrombi, which we recently addressed in partI of this review. In this second part, we look at additional causes of vascular occlusion.

A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.

Sneddon syndrome is a rare disorder affecting small and medium-sized blood vessels that is characterized by the association of livedo reticularis and stroke. We performed whole-exome sequencing (WES) in 2 affected siblings of a consanguineous family with childhood-onset stroke and identified a homozygous nonsense mutation within the epidermal growth factor repeat (EGFr) 19 of NOTCH3, p.(Arg735Ter). WES of 6 additional cases with adult-onset stroke revealed 2 patients carrying heterozygous loss-of-function variants in putative NOTCH3 downstream genes, ANGPTL4, and PALLD. Our findings suggest that impaired NOTCH3 signaling is one underlying disease mechanism and that bi-allelic loss-of-function mutation in NOTCH3 is a cause of familial Sneddon syndrome with pediatric stroke.