Case report: Recurrent pontine stroke and leukoencephalopathy in a patient with de novo mutation in COL4A1
Hui Zhang,
Kai-Li Fan,
Yue-Qi Zhang
et al.
Abstract:This report presents a case of pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) in a 35 year-old male patient. The patient exhibited a consistent history of recurrent ischemic strokes, concentrated primarily in the pons region, accompanied by concurrent manifestations of leukoencephalopathy and microbleeds. Genetic evaluation revealed a heterozygous missense mutation consistent with c.3431C>G, p. Thr1144Arg substitution within exon 40 of the COL4A1 gene. This mutation was als… Show more
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