Case report: Co-occurrence of Wilson's and Alexander's diseases revealed by genetic analysis.

ABSTRACT: Wilson's disease (WD) and Alexander's disease (AxD) are two prevalent genetic illnesses in clinical practice. However, cases of concurrent WD and AxD have not been reported. A mutation in the ATP7B gene causes improper copper metabolism, whereas AxD is caused by a mutation in the GFAP gene, which causes glial fibrillary acidic protein to accumulate in astrocytes. We present the first instance of concurrent WD and AxD in order to increase the diagnosis accuracy of this type of disease and provide a more precise treatment plan for the patient. A 10-year-old girl who appeared with diminished speech, limb weakness, trouble walking, and mental behavioral problems within the last 2 months. The patient's copper biochemistry results and clinical manifestations supported the diagnosis of WD, howeve

SUBMITTER: Ge S 

PROVIDER: S-EPMC11938389 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature