Rare Diseases Symptoms Automatic Extraction

Bochdalek hernia in a symptomatic adult.

[congenital diaphragmatic hernia]

Bochdalek hernias usually present in neonates with respiratory failure, need to be operated early and are associated with a high mortality. We describe an adult patient who came to the emergency department with nonspecific recurrent chest and abdominal pain. A computed tomography scan showed a large posterolateral diaphragmatic defect and an oversized spleen. The hernia was repaired by a thoracoabdominal approach and Gore-Tex patch. Congenital diaphragmatic hernias are rare and are associated with nonspecific symptoms in adults. With suspicious chest or abdominal radiographs, a computed tomography scan is essential to plan an individualized surgical intervention.

Diseases presenting "respiratory failure" symptom

  • achondroplasia
  • allergic bronchopulmonary aspergillosis
  • congenital diaphragmatic hernia
  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • heparin-induced thrombocytopenia
  • inclusion body myositis
  • junctional epidermolysis bullosa
  • lamellar ichthyosis
  • legionellosis
  • lymphangioleiomyomatosis
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • typhoid
  • von hippel-lindau disease

This symptom has already been validated