6-year male child born to non-consanguineous marriage who was absolutely alright 4 days back when her mother noticed black discoloration of place where he micturated sometime back. There was no history of fever, pain in abd, trauma. No significant illness in past. No significant family history On examination height and weight and other anthropometric measurements were in range Patient was afebrile and vitals were stable, mild pallor was present, sclera was muddy but no icterus. Tonsils and oropharynx were normal. Joints were normal and not painful.
Systemic examination was also normal. Investigation- CBC-normal. Urine routine- colour- reddish brown, RBC-nil, pus cells-nil, epith cells-nil, specific gravity-normal, culture no growth. Considering to be a case of alkaptonuria I ordered urine homogentisate. After this report I started him on Vit C and asked relative to look for Nitisinone.…
