Abstract

LOPEZ PEREZ, Juan José  and  PAEZ GAITAN, Hernán Felipe. Homocystinuria, Case Report. Rev. Med [online]. 2019, vol.27, n.1, pp.73-84.  Epub Nov 26, 2022. ISSN 0121-5256.  https://doi.org/10.18359/rmed.4116.

This article presents the case of a 13-year-old girl with a 2-year history of headache, which has been studied for lens subluxation and Marfanoid phenotype. To carry out this research, a simple brain tomography was performed that showed thrombosis of several sinuses. Subsequently, the patient was hospitalized in the intensive care unit and anticoagulated with enoxaparin. A study was requested for thrombophilia along with homocysteine in blood, on suspicion of homocystinuria. After confirming the diagnosis, pyridoxin and folic acid were prescribed, with which the patient evolved satisfactorily and recovered lost functions. Follow-up on this case for the research allowed us to find a decrease in homocysteine greater than 20 %, without its levels being below 50 µmol/L, which makes the patient partially responsive to pyridoxine.

Keywords : Cerebral venous thrombosis; homocystinuria; cystathionine B-synthase; lens subluxation.

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