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:

• Distelmaier F et al. Blue Diaper Syndrome and PCSK1 Mutations.Pediatrics. 2018 Apr;141(Suppl 5):S501-S505