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Data from: Clinical reasoning: a 14-year-old girl with headache, seizures, and confusion

Citation

Xiao, Lijun et al. (2019), Data from: Clinical reasoning: a 14-year-old girl with headache, seizures, and confusion, Dryad, Dataset, https://doi.org/10.5061/dryad.6cc5h8f

Abstract

In this report, we characterized describe a 14-year-old girl who developed progressive cerebral venous sinus thrombosis (CVST) and, with multiple organs and systems disfunction in 7 days which are similar to Marfan Syndrome in partial clinical characteristics. Through clinical phenotype and gene detection information, During our workup we uncovered we found two novel compound heterozygous mutations of cystathionine beta-synthase (CBS) gene, c.551 T>C and c.949 A>G, leading to hyperhomocysteinemia (HHcy). This, which suggested an irreplaceable correlation in likely led to her CVST and was a well answer for the multiple organs and systems failure in the case multiorgan dysfunction. This case highlights that (1) HHcy is of great clinical significance in CVST young patients; and (2) for patients with HHcy, excluding all exogenous factors of HHcy such as dietary deficiency of vitamins, genetic factors. neurologists should recognize the potential genetic component to this disorder, especially when there is a strong family history and multisystem failure, should be paid much more attention, especially accompanied with multiple organs and systems disfunction and/or patient family history.

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