Rare Diseases Symptoms Automatic Extraction

Spontaneous diaphragmatic rupture related to local invasion by retroperitoneal liposarcoma.

[dedifferentiated liposarcoma]

We report a case of the female patient who was admitted to the hospital because of syncope experienced while climbing stairs. Diagnostic workup raised the suspicion of a right diaphragmatic rupture that was eventually confirmed by surgery (right-sided thoracotomy). Surgery also revealed tissue protruding through the rupture site from within the retroperitoneum that was proven subsequently to be a dedifferentiated liposarcoma. Second surgery was performed to completely remove the liposarcoma tissue and repair a coincident old right lumbar region hernia. The patient recovered fully. Spontaneous rupture of the diaphragm is rare and this is especially true for the right hemidiaphragm. We report the first case of diaphragmatic rupture caused by local infiltration by a retroperitoneal liposarcoma. This and similar reports emphasise that in cases with high clinical suspicion of diaphragmatic rupture, diagnosis should be pursued even in the absence of a preceding traumatic event.

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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