Muscular hypertrophy of the oesophagus and "Alport-like" glomerular lesions in a boy

Eur J Pediatr. 1990 Jun;149(9):623-7. doi: 10.1007/BF02034748.

Abstract

A patient with idiopathic muscular hypertrophy of the oesophagus, bilateral cataracts and an Alport-like nephropathy is described. Only 15 patients with a similar association have been described so far and autosomal dominant inheritance is most likely.

Publication types

  • Case Reports

MeSH terms

  • Cataract / complications
  • Child
  • Esophageal Neoplasms / diagnosis*
  • Esophagus / pathology*
  • Humans
  • Hypertrophy
  • Kidney Glomerulus / pathology*
  • Leiomyoma / diagnosis*
  • Male
  • Nephritis, Hereditary / pathology*