Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.

J Inherit Metab Dis

Department of General Pediatrics and Neonatology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.

Published: November 2023

Classical homocystinuria is caused by pathogenic variants in the CBS gene leading to a deficiency of the vitamin B6-dependent enzyme cystathionine beta synthase. The disease is typically associated with high blood homocysteine concentrations. Clinical features include developmental delay/intellectual disability, psychiatric problems, thromboembolism, lens dislocation, and marfanoid habitus. We report on a child with classical homocystinuria presenting with acute episodes of dystonia and symmetrical basal ganglia abnormalities mimicking a mitochondrial disease. After starting treatment with vitamin B6, homocysteine levels rapidly normalized and dystonic episodes did not re-occur. Moreover, brain-imaging findings almost completely disappeared. The case illustrates that homocystinuria should be considered as a treatable differential diagnosis of dystonia.

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Source
http://dx.doi.org/10.1002/jimd.12680DOI Listing

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