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 "abdominal pain" symptom

  • 22q11.2 deletion syndrome
  • adrenal incidentaloma
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • congenital diaphragmatic hernia
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • focal myositis
  • liposarcoma
  • lymphangioleiomyomatosis
  • malignant atrophic papulosis
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • scrub typhus
  • sneddon syndrome
  • systemic capillary leak syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma

This symptom has already been validated