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 (...)
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Disease
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Hirschsprung disease
6 October 2003 -
focal nodular hyperplasia
29 May 2003focal nodular hyperplasia of the liver, hepatic focal nodular hyperplasia, FNH (previous denomination: benign hepatoma, solitary hyperplastic nodule, focal sclerosis, hamartomatous cholangiohepatoma, mixed adenoma)
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Smith-Lemli-Opitz syndrome
25 November 2003SLOS, SLO syndrome, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, polydactyly-sex reversal-renal hypoplasia syndrome, letahl acrodysgenital syndrome
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cystic fibrosis
27 June 2003mucoviscidosis
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thrombotic microangiopathy
15 April 2005thrombotic microangiopathies, Moschkowitz syndrome, TMA
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Alzheimer disease
20 October 2003Alzheimer’s disease
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extralobar pulmonary sequestration
29 October 2003extra-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 2005thanatophoric dwarfism, thanatophoric dysplasias
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Erdheim-Chester disease
8 October 2003Ent. 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 2005THAS, TAS, thoracoabdominal syndrome, Cantrell syndrome, "shagreen skin" pentalogy