Late-onset Pompe disease in a patient with cerebellar hemorrhage
Year: 2025
Type: article
Study design: Case Report
Abstract: Pompe disease (glycogen storage disease type II) is a rare autosomal recessive multisystem disorder characterized by the deposition of glycogen in skeletal muscles and internal organs. The late-onset form is characterized by slow progression with proximal muscle damage, respiratory failure, and less severe internal organ damage than the infantile form. The article presents a case report of a 61-year-old female patient who underwent inpatient treatment. The patient had been having progressive muscle weakness for over 20 years and had a positive family history, but the reason for further evaluation and treatment was hemorrhage in the left cerebellar hemisphere. Laboratory and instrumental data are presented and clinical manifestations are discussed.
DOI: 10.17816/acen.1257
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4409123498