Rare Diseases Symptoms Automatic Extraction

[Antiphospholipid antibodies in a female patient with the Sneddon syndrome].

[sneddon syndrome]

Sneddon was the first one to describe the association of cerebrovascular insult (CVI) and skin changes by livedo reticularis type. Angiography of this patient revealed normal brain blood vessels, occlusive changes or the changes similar to those in moya-moya disease. Computed tomography (CT) of the brain most frequently revealed ischemic lesions and/or diffuse atrophy of the brain, although the normal finding was also possible. Considering the frequent finding of the increased titer of anticardiolipin antibodies (ACA) in those patients, those antibodies could be the most important in the pathogenesis of Sneddon's syndrome. A case of female patient, aged 66 years, with livedo reticularis and recurrent CVI was presented in this study. By panangiography were revealed normal blood vessels of the brain, by scintigraphy two ischemic lesions and by CT ischemic lesions with pronounced cortical and subcortical reductive changes. In laboratory findings were observed increased immunocomplexes and the presence of lupus-like anticoagulants, increased ACA titer, the increase in fibrinogen value associated with increased ESR. The result of bone marrow examination was normal, while the borreliosis test was negative. Vasculitis was excluded by skin biopsy. Solid improvement was noticed after the immunosuppresive therapy was administered, but in the last disease exacerbation with new CVI, the outcome was lethal 3 years since the disease onset.

Diseases presenting "female patient" symptom

  • achondroplasia
  • adrenal incidentaloma
  • alexander disease
  • aniridia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • coats disease
  • cohen syndrome
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentinogenesis imperfecta
  • epidermolysis bullosa simplex
  • esophageal squamous cell carcinoma
  • fabry disease
  • holt-oram syndrome
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • x-linked adrenoleukodystrophy

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