Disease

Articles

• Hirschsprung disease
  6 October 2003

  Hirschsprung’s disease, congenital intestinal aganglionosis, digestive aganglionnosis; digestive aganglionoses PO1 PO2
  Definition: Aganglionic megacolon is associated with congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. The disorder is genetically heterogeneous.
  Digital cases
  HPC:90 : rectal mucosa biopsies
  HPC:98 : rectal mucosa biopsies
  HPC:151 : Hirschsprung disease - Rectal (...)

• focal nodular hyperplasia
  29 May 2003

  focal nodular hyperplasia of the liver, hepatic focal nodular hyperplasia, FNH (previous denomination: benign hepatoma, solitary hyperplastic nodule, focal sclerosis, hamartomatous cholangiohepatoma, mixed adenoma)

• Smith-Lemli-Opitz syndrome
  25 November 2003

  SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome

• cystic fibrosis
  27 June 2003

  mucoviscidosis

• thrombotic microangiopathy
  15 April 2005

  thrombotic microangiopathies, Moschkowitz syndrome, TMA

• Alzheimer disease
  20 October 2003

  Alzheimer’s disease

• extralobar pulmonary sequestration
  29 October 2003

  extra-pulmonary sequestration ; ELPS
  Definition: Extralobar pulmonary sequestration (ELPS) are segmentsof lung tissue ("accessory lungs") with a distinct pleural investment and complete anatomic and physiologic seprartion from the normal lung. Blood supply is usually by anomalous systemic artery with venous drainage into the azygos or hemizygos system.
  The abnormal tissue may be located either above or below the diaphragm, most often on the left side.
  Images
  Extrapulmonary (...)

• thanatophoric dysplasia
  5 July 2005

  thanatophoric dwarfism, thanatophoric dysplasias

• Erdheim-Chester disease
  8 October 2003

  Ent. Chester, 1930. Nom. Chester, 1930.
  Definition: Erdheim-Chester disease is a very rare xanthogranulomatous, non-Langerhans cell systemic histiocytosis with an unknown etiology and pathogenesis. It involves the marrow space of the long bones.
  Extraosseous sites most commonly affected include the eyes, lungs, pituitary glands, and kidneys.
  Images
  50 year old man with bone pain and bilateral symmetrical sclerotic lesions on plain films of his femurs (...)

• pentalogy of Cantrell
  19 December 2005

  THAS, TAS, thoracoabdominal syndrome, Cantrell syndrome, "shagreen skin" pentalogy

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