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Persistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report
Pauline Harper1, Carl-Johan Törnhage2,3, Eliane Sardh4,5
1Department of Medical Biochemistry and Biophysics, Centre for Inherited Metabolic Diseases, Porphyria Centre Sweden, Karolinska Institutet Karolinska University Hospital Stockholm Sweden.
Clinical Case Reports
|October 20, 2025
Summary
Porphyria cutanea tarda (PCT) is rare in children, often diagnosed late. Early suspicion can arise from reddish urine, especially with family history, aiding timely diagnosis in pediatric cases.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Dermatology
Background:
- Porphyria cutanea tarda (PCT) is a rare disorder in children.
- Porphyria Center Sweden has diagnosed 1400 PCT cases since 1987, with only five in children.
- Children diagnosed were heterozygous for pathogenic UROD gene variants and homozygous for hemochromatosis.
Purpose of the Study:
- To highlight diagnostic challenges and delays in pediatric PCT.
- To emphasize the importance of considering non-cutaneous symptoms for early detection.
- To present case reports illustrating varied presentations of PCT in children.
Main Methods:
- Retrospective review of pediatric PCT cases at Porphyria Center Sweden.
- Analysis of clinical presentation, genetic findings, and diagnostic timelines.
- Case report documentation of children with PCT.
Main Results:
- Diagnosis of pediatric PCT is often delayed, even with skin symptoms.
- Reddish urine, without skin lesions, prompted suspicion in two cases.
- Family history and maternal recognition of "beetroot red" urine aided diagnosis in some cases.
Conclusions:
- Pediatric PCT diagnosis requires heightened clinical suspicion, especially with family history.
- Non-cutaneous signs like discolored urine can be crucial early indicators.
- Timely diagnosis and management are essential for children with PCT.
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