A neonate presented with mucopolysaccharidosis-like phenotypic expression and typical signs of dysostosis multiplex but without urinary excretion of glycosaminoglycans. Investigations of lysosomal enzymes in cultured fibroblasts revealed a mucolipidosis type 2, known as I-cell disease. We describe the fatal course of the patient due to complications of an uncommon dilated cardiomyopathy in this...

A 2-year-old boy presented with delayed motor skills and language since birth. Family history disclosed consanguineous parents. Examination showed global muscular hypotonia, optic atrophy, oculomotor apraxia, and normal head circumference. Brain MRI showed optic atrophy and macrocerebellum (figure). Laboratory tests revealed deficient activity of a-L-iduronidase in peripheral blood leukocytes a...

After a herculean data-gathering effort, in this issue of Blood, Aldenhoven and colleagues from Europe and North America provide an eye-opening assessment of long-term neurocognitive, organ, joint, and tissue function after allogeneic transplantation of children with mucopolysaccharidosis type I–Hurler syndrome (MPS-IH), along with an analysis defining a path to better these outcomes.

Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of unprocessed glycosaminoglycans (GAGs) that manifests with severe to mild skeletal and cardiopulmonary abnormalities. We have developed a modif...

Pag. 1 Background 2 1. Lysosomal storage disease 2 Pathogenetic events in lysosomal storage diseases 2 New therapeutic options for lysosomal storage diseases 5 Gene therapy by retroviral vectors 10 2. Mucopolysaccharidosis IIIB 14 Aims of the PhD thesis 16 Matherials and Methods 17 Chemicals 17 Animals 17 Western Blotting 17 Primary cortical neuronal cultures 18 Confocal immunofluorescence anal...

Genetic and inherited disorders have accompanied humanity since its earliest existence. Many prehistoric and historic sites have revealed archeological remains with pathologies suggestive of inherited disorders. Paleopathology studies the identification of pathological conditions in ancient skeletal remains from many world sites revealed the presence of various hereditary or congenital conditio...

Introduction: We present the unexpected findings of a 59-years-old female patient who was admitted for an imaging investigation after the exclusion of rheumatoid arthritis and recurring carpal tunnel syndrome she was operated on both hands several years earlier. Case presentation: Magnetic resonance imaging of the cervical spine revealed severe scoliosis in the cervicothoracic junction with bic...