A newly identified mutation is responsible for an uncommon presentation of Pompe disease (PD), according to a study recently published in CNS Neuroscience & Therapeutics.

“The mutations identified in this case may be associated with the vascular phenotype of Pompe disease,” the authors wrote.

This case report describes a 39-year-old male who presented with double vision and dizziness over the course of 4 days. His past medical history includes hypertension, gout, and kidney stones, and he further reports feeling fatigued easily when performing sports.

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Relevant findings on the physical exam include left diplopia and horizontal nystagmus, with impaired bilateral of both eyes and difficulty walking in a straight line. Laboratory tests reported abnormal creatinine kinase at 458 U/L, lactate dehydrogenase at 259 U/L, and uric acid in the blood of 610 μmol/L.

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Finally, the GAA enzyme activity was below normal at 0.28 μmol/L/h. Upon these findings, the patient underwent genetic testing, revealing a novel 2 compound heterozygous missense mutations in the GAA gene in exon 16, hence diagnosing the patient with late-onset PD, as described by Si et al.

A cerebral magnetic resonance imaging showcased an acute lacunar infarct on the left pontine brain, and lacunar foci on the right pontine brain, while a computed tomography angiography demonstrated stenosis of both intracranial vertebral arteries. The healthcare providers added a brainstem infarction as a diagnosis, secondary to PD.

“Furthermore, the mutations of c.2296T>C and c.2238G>C both locate in exon 16, which may indicate the potential genetic risk of the ischemic stroke onset,” the authors explained.

The subject initiated treatment with enzyme replacement therapy, 100 mg of aspirin daily, 75 mg of clopidogrel daily, and 20 mg of atorvastatin daily. Other therapeutic recommendations were a diet low in salt and purines. In a control assessment 6 months later, he had resolved all visual abnormalities.


Si X, Zhang R, Yan S, Zhao G, Yin X, Zhang B. Late‐onset Pompe disease with a novel mutation and a rare phenotype: a case report. CNS Neurosci Ther. Published online July 7, 2022. doi:10.1111/cns.13903