Blue Diaper Syndrome Clinical CharacteristicsOcular Features: A single patient has been reported with microcornea, optic nerve hypoplasia, and 'abnormal' eye movements. The full ocular phenotype is unknown but 'visual problems' are sometimes mentioned in other reports. Systemic Features: Nephrocalcinosis and blue urine are the major systemic manifestations of blue diaper syndrome. Symptoms of fever, constipation, poor weight gain, failure to thrive, and irritability can also be part of the syndrome. GeneticsThis is considered an autosomal recessive disorder although an X-linked defect cannot be ruled out since reported patients have been male. Parental consanguinity is present in some families. Nothing is known about the mutation or its locus. Intestinal transport of tryptophan is defective and bacterial degradation results in excessive indole production. Oxidation in the urine to indigo blue results in the characteristic discoloration. Pedigree: Autosomal recessiveTreatmentTreatment Options: Restriction of dietary tryptophan has been suggested. ReferencesArticle Title: The ocular abnormalities of blue diaper syndrome Chen Y, Wu L, Xiong Q. The ocular abnormalities of blue diaper syndrome. Metab Pediatr Syst Ophthalmol. 1991;14(3-4):73-5. PubMed ID: 1818237 The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria; A new familial disease, with definition of the metabolic abnormality Drummond KN, Michael AT, Ulstrom RA, Good, RA. The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria; A new familial disease, with definition of the metabolic abnormality. Am J Med. 1964 Dec;37:928-48. PubMed ID: 14246093 Read more about Blue Diaper Syndrome
The ocular abnormalities of blue diaper syndrome Chen Y, Wu L, Xiong Q. The ocular abnormalities of blue diaper syndrome. Metab Pediatr Syst Ophthalmol. 1991;14(3-4):73-5. PubMed ID: 1818237
The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria; A new familial disease, with definition of the metabolic abnormality Drummond KN, Michael AT, Ulstrom RA, Good, RA. The blue diaper syndrome: Familial hypercalcemia with nephrocalcinosis and indicanuria; A new familial disease, with definition of the metabolic abnormality. Am J Med. 1964 Dec;37:928-48. PubMed ID: 14246093
