Rare Diseases Symptoms Automatic Extraction

Sneddon's syndrome presenting with severe disabling bilateral headache.

[sneddon syndrome]

Sneddon's syndrome is a rare vascular disease affecting mainly skin and brain arterioles leading to their occlusion due to excessive endothelial proliferation. The two main features of this syndrome are livedo reticularis and lacunar subcortical infarcts. Here, we describe the case of a 64-year-old woman presenting with a 4-year history of a throbbing, bilateral, parieto-occipital headache associated with facial pain, but without any other accompanying symptom. The pain, initially misdiagnosed as atypical trigeminal neuralgia, worsened up to chronic daily and such severely disabling headache that she was constrained to bed. She presented with reduced cognitive functions, diffuse and severe livedo reticularis, severe myalgias and mild stiffness. All diagnostic test for different diseases were performed and other diseases excluded except for Sneddon's syndrome. Her symptoms were reduced firstly using acetylsalicylic acid, then ticlopidine 250 mg bid was begun and then Pentoxyphillin, resulting in a significant improvement of symptoms with the disappearance of headache. Her worsening in the first year was characterized by obsessive-compulsive behaviours, body-image misperceptions and panic attacks, improved for a period using olanzapine. Considering this case, we remark the importance of using headache classification to avoid diagnostic errors, secondly, we describe an atypical manifestation of Sneddon's syndrome and therapeutic efficacy of using ticlopidine and pentoxyphillin.

Diseases presenting "headache" symptom

  • acute rheumatic fever
  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • cadasil
  • cushing syndrome
  • cutaneous mastocytosis
  • erdheim-chester disease
  • esophageal squamous cell carcinoma
  • familial mediterranean fever
  • hereditary cerebral hemorrhage with amyloidosis
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • legionellosis
  • locked-in syndrome
  • malignant atrophic papulosis
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • typhoid
  • von hippel-lindau disease

This symptom has already been validated