Case report

A man with late-onset Pompe disease (LOPD) was initially misdiagnosed with an inflammatory muscle disease called polymyositis, according to a case study highlighting the need to incorporate imaging tests in clinical practice to reduce the delay in diagnosis and treatment. After medication failed to improve his muscle strength, the…

No anesthesia complications were reported and surgery was successful for a man with late-onset Pompe disease and airway problems who broke a bone in his upper arm, according to a case report from Spain. The man, 47, underwent surgery for the broken left arm under a combined anesthesia approach after…

A newborn boy was diagnosed with both infantile-onset Pompe disease (IOPD) and sickle cell disease (SCD) in the first case study to report two co-existing genetic disorders. The boy was given enzyme replacement therapy (ERT), a standard Pompe treatment, and regular blood transfusions to prevent heart damage…

A woman was diagnosed with advanced late-onset Pompe disease after three decades of being misdiagnosed, according to a recent case report. After diagnosis, the woman began treatment with Myozyme (alglucosidase alfa), which led to marked improvements that enabled her to live independently. The findings underscore a need for…

A report describes the unusual case of a man with late-onset Pompe disease (LOPD) that manifested with abnormalities in blood flow in the brain causing stroke-like symptoms. Abnormalities affecting blood vessels in the brain may be an under-recognized complication of LOPD, the researchers said. The study, “…

A toddler girl with infantile-onset Pompe disease is able to walk independently and lives with a healthy heart after receiving treatment as a baby, according to researchers who used a combination of early enzyme replacement therapy (ERT) and immunotherapy. Immunotherapy helped tone down the body’s immune…

Adding L-alanine supplements to standard enzyme replacement therapy (ERT) for a young girl with Pompe disease led to improvements in several metabolic and body composition measures, a case report shows. According to researchers, this was the first known report of oral supplements of L-alanine — an amino acid,…

The discovery of a new combination of mutations causing infantile-onset Pompe disease, described in a case report, highlights the importance of screening for early detection of the rare genetic disorder. A sensitive and inexpensive screening system could improve the prognosis of infants with Pompe disease (PD), the researchers…

People with late-onset Pompe disease (LOPD) can develop damage to the nerves that run throughout their body, a recent case report about four patients shows. Such nerve damage in LOPD patients can worsen disability and needs special attention and care, such as physiotherapy. The report with those findings, “…

New genetic mutations and uncommon clinical symptoms, including skeletal alterations and developmental delay, were linked to juvenile-onset Pompe disease in three rare cases, making early recognition of these anomolies an important step to providing the best care for these patients, a study says. The cases were described by researchers from…