Publications by authors named "Caio Robledo Quaio"
Background: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replacement Therapy (ERT) has provided significant benefits for patients, retarding the natural progression of the disease.
Results: The authors evaluated 17 patients from the same family with a mild form of MPS type II; the proband had developed acute decompensated heart failure refractory to clinical measurements at 23 years and needed a rather urgent heart transplant; however, he died from surgical complications shortly after the procedure.
Mucopolysaccharidosis type IVA is a rare lysosomal storage disease caused by a deficiency of N-acetylgalactosamine 6-sulfatase. Studies usually focus on skeletal abnormalities and their consequences. This study explores the neurological manifestations in a cohort of mucopolysaccharidosis type IVA patients, with a detailed focus on brain and spinal magnetic resonance imaging (MRI) findings.
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- Mucopolysaccharidosis type VI is a rare genetic disorder characterized by arylsulfatase B deficiency, and this study investigates neurological issues in affected patients undergoing enzyme-replacement therapy.* -
- A study of six patients revealed that while cognitive function was generally preserved, many had neurological symptoms like hearing loss and spinal cord compression, despite appearing asymptomatic.* -
- Findings suggest that neurological issues are common in these patients regardless of their clinical symptoms, indicating that regular imaging should be part of their care rather than relying solely on clinical assessments.*