A case report: Featuring a young boy presenting with excessive hair growth & red colored urine

Abstract

A four-year-old boy from a rural town in Saudi Arabia presented at the pediatric clinic at King Abdul-Aziz University Hospital complaining of hypertricosis, skin pigmentations, abdominal pain, vomiting and red urine. We discovered upon laboratory investigations, disturbed liver enzymes, elevated serum ferritin and high uroporphyrin values. The constellation of symptoms and the elevated uroporphyrin suggested the diagnosis of Porphyria. We would like to believe this is an interesting case, which demonstrates a number of combined clinical features in a child, who is the product of a first-degree consanguineous marriage.

Keywords

• Hypertricosis, Red Urine, Porphyria, Hyperpigementation

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