Rare Diseases Symptoms Automatic Extraction

Erdheim-Chester disease: The role of video-assisted thoracoscopic surgery in diagnosing and treating cardiac involvement.

[erdheim-chester disease]

Erdheim-Chester disease is a rare, non-Langerhans histiocytosis in which pericardial involvement is diagnosed with increasing frequency and is associated with high mortality rates.A 53-year-old woman presented with progressive exertional dyspnea and pericardial effusion was discovered. Further investigations revealed the presence of a diffuse, infiltrating process and a diagnosis of Erdheim-Chester disease was made. An emergent pericardiocentesis by subxiphoid approach was completed but recurrent drainage obviated removal of the pigtail catheter. A pleuro-pericardial window was placed using video-assisted thoracoscopic surgery (VATS) and analysis of the resected specimen confirmed pericardial involvement.In this case, high pericardial fluid output demanded definitive treatment of the pericardial effusion. Traditionally this would be completed via thoracotomy. VATS is a minimally invasive alternative which permits exploration of the thoracic cavity and the creation of a pleuropericardial window.We describe, for the first time, the successful use of VATS for both diagnostic confirmation and therapeutic relief of recurrent pericardial fluid drainage due to pericardial involvement by Erdheim-Chester disease.

Diseases presenting "first time" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dentinogenesis imperfecta
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial mediterranean fever
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • holt-oram syndrome
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kallmann syndrome
  • liposarcoma
  • locked-in syndrome
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • pendred syndrome
  • phenylketonuria
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • trochlear dysplasia
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

You can validate or delete this automatically detected symptom