Blue diaper syndrome
Blue diaper syndrome (BDS) (Online Mendelian Inheritance in Man number 211000) (Drummond's syndrome)
- an extremely rare disorder that was first described in 1964
- characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants
- additional clinical features described patients included diarrhoea, inadequate weight gain, hypercalcaemia, and nephrocalcinosis
Aetiology:
- postulated that due to an intestinal defect of tryptophan absorption
- however, functional evidence for this theory is lacking
- there has been no genetic cause yet identified
Reference:
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