acid-phosphatase and Glycogen-Storage-Disease-Type-II

The clinical and histological presentations of the adult form of Pompe disease may be atypical. In such cases, identifying histological signs that point to the diagnosis would be crucial to avoid a delay in care. The aim of our study was to investigate the presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsies of patients with late-onset Pompe disease.. We retrospectively studied muscle biopsies of all cases of the adult form of Pompe disease diagnosed at the University Hospital of Caen. Three of these four cases showed atypical clinical signs, and diagnosis was established tardily based on family history or systematic analysis of acid maltase activity.. All biopsies showed some rimmed vacuoles. The acid phosphatase reaction showed positive inclusions and labelled vacuoles in biopsies of all patients.. The presence of rimmed vacuoles and acid phosphatase positivity in muscle biopsy should suggest the diagnosis of the adult form of Pompe disease, this is decisive since effective therapy is available.

Topics: Acid Phosphatase; Adult; Age of Onset; Biomarkers; Biopsy; Female; Glycogen Storage Disease Type II; Humans; Inclusion Bodies; Male; Middle Aged; Muscle, Skeletal; Retrospective Studies; Vacuoles

Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no typical vacuolated fibers but did show unique globular inclusions with acid phosphatase activity. The acid phosphatase-positive globular inclusions may be a useful diagnostic marker for adult-onset Pompe disease even when typical vacuolated fibers are absent.

Topics: Acid Phosphatase; Adult; Age of Onset; alpha-Glucosidases; DNA Mutational Analysis; Female; Genetic Markers; Glycogen Storage Disease Type II; Humans; Inclusion Bodies; Male; Middle Aged; Muscle, Skeletal; Mutation

Muscle cultures from patients with infantile and later-onset acid maltase deficiency (AMD) and from unaffected controls were studied immunocytochemically with anti-acid maltase (anti-AM) antibodies and fluorescein-labeled goat anti-rabbit IgG second antibody. In control muscle cells, an intense granular distribution of staining was seen, consistent with lysosomal localization of AM. Cultured muscle cells from two patients with infantile AMD (Pompe's disease) did not fluoresce, whereas cells from two patients with AMD of later onset did fluoresce, showing a distribution similar to that of controls.

Topics: Acid Phosphatase; Adult; alpha-Glucosidases; Child, Preschool; Culture Techniques; Fluorescent Antibody Technique; Glucan 1,4-alpha-Glucosidase; Glucosidases; Glycogen Storage Disease; Glycogen Storage Disease Type II; Histocytochemistry; Humans; Infant, Newborn; Male; Muscles

The pathology of canine glycogen storage disease type II (acid alpha-glucosidase deficiency, GSD II) was studied in three genetically related Lapland dogs and compared to the pathology of human GSD II (McKusick 23230). Canine GSD II closely parallels the infantile form of the human disease, except for the presence of oesophageal dilatation. Generalized glycogen storage particularly affected muscular tissues (skeletal, oesophageal, cardiac and smooth muscle). The altered cells showed glycogen accumulation in the cytosol and in autophagic membrane-bound vacuoles (glycogenosomes). They also showed increased acid phosphatase activity consistent with the lysosomal nature of this storage disorder. The cytopathology in canine and human GSD II appears to evolve from segregation of glycogen during regular cellular autophagy, phagolysosomal accumulation of the undigested glycogen, and eventually rupture of distended glycogenosomes. This study indicates that the usefulness of canine GSD II as an animal model of human disease, extends to the area of pathogenesis.

Topics: Acid Phosphatase; Animals; Brain; Cytoplasm; Disease Models, Animal; Dogs; Esophagus; Female; Glycogen; Glycogen Storage Disease; Glycogen Storage Disease Type II; Humans; Kidney; Liver; Male; Microscopy, Electron; Muscle, Smooth; Muscles; Myocardium; Neurons; Spinal Cord; Vacuoles