Hyperhomocysteinemia secondary to cystathionine beta-synthetase deficiency. Presentation of an atypical case
DOI:
https://doi.org/10.53903/01212095.198Keywords:
Homocystinuria, Leukoencephalopathies, Magnetic resonance imagingAbstract
We describe the case of a 2-year-old boy with neurodevelopmental delay, in whom brain MRI showed diffuse white matter changes, diffusion restriction, and hyperintensity of the medial tegmental tract, prior to the diagnosis of hyperhomocysteinemia secondary to Cystathionine beta-synthase deficiency (classic homocystinuria). These findings are not typically described in this disorder, so its diagnosis may be delayed. This case illustrates the need to consider classical homocystinuria in the differential diagnosis of childhood white matter diseases, as well as within the causes of central tegmental tract hyperintensity.
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