Muscular hypertrophy of the oesophagus and "Alport-like" glomerular lesions in a boy.
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.
Legius
E
E
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Proesmans
W
W
Van Damme
B
B
Geboes
K
K
Lerut
T
T
Eggermont
E
E
D002386:Cataract / Q000150:complications; D002648:Child; D004938:Esophageal Neoplasms / Q000175:diagnosis*; D004947:Esophagus / Q000473:pathology*; D006801:Humans; D006984:Hypertrophy; D007678:Kidney Glomerulus / Q000473:pathology*; D007889:Leiomyoma / Q000175:diagnosis*; D008297:Male; D009394:Nephritis, Hereditary / Q000473:pathology*