Marfan syndrome (MFS)

Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1.

Hirschsprung disease

Congenital megacolon characterized by lack of ganglion cells/enteric nervous plexuses (Auerbach and Meissner plexuses) in distal segment of colon.

Intussusception (ISS)

Telescoping/invagination of a proximal bowel segment into a distal segment, commonly at the ileocecal junction. Males > females M/C in children (peak at 5-10 months age) Terminology: Apex: Advancing part Intussuscipiens: Receiving end (outer sheath) Intusssusceptum: Advancing tube (middle & inner sheaths) Etiopathogenesis Idiopathic (M/C, 90%) Pathological lead point: Children (1⁄3 cases after 2 years…

Chronic pancreatitis

Continuing inflammatory disease of pancreas characterised by irreversible morphological change typically causing pain and/or permanent loss of function.