A Rare Presentation of Classical Homocystinuria: Cerebral Thrombophlebitis in an Adolescent

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Thrombophlebitis of the left sigmoid sinus occurred in a 13-year-old with homocystinuria, emphasizing rare complications of the disease.
Elevated plasma homocysteine levels (155 µmol/L) and increased methionine in blood confirmed the diagnosis, guiding appropriate treatment.
Treatment with folic acid, pyridoxine, and vitamin B12 stabilized clinical signs, indicating potential therapeutic approaches for homocystinuria.
Early recognition of homocystinuria's neurovascular risks is crucial to minimizing complications and enhancing patient outcomes.

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This case describes cerebral thrombophlebitis in an adolescent with homocystinuria, highlighting diagnostic challenges and complications.

Agarrab et al. (2025) studied this question.

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