Proteus syndrome: Rare cause of life-threatening haematuria

Abstract

Proteus syndrome is an extremely rare sporadic hamartomatous condition characterized by random overgrowth of connective, epidermal and bony tissue. Involvement of the genitourinary system in PS is extremely rare and if present, are usually caused by enlarging cysts or neoplasms. Infrequent reports of testicular, renal and bladder involvement have been reported. The involvement of the bladder is predominantly due to vascular malformations with only three previous cases reported in literature. We report the fourth case – one of a 14-year-old male with known Proteus syndrome that presented to the emergency unit with life threatening haematuria. He appeared acutely ill in haemorrhagic shock with a haemoglobin of 4.3 g/dL on index presentation. Initial acute management involved aggressive resuscitation of the patient with intravenous fluids and blood transfusion. Cystoscopy revealed an actively-bleeding extensive venous anomalies of the bladder wall that were successfully-sealed with electrocautery.

Keywords

haematuria Proteus syndrome vascular malformation bladder venous anomaly endourology

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