Pompe disease is a lysosomal storage disorder caused by a deficiency of theenzyme acid alpha-glucosidase. Patients have skeletal muscle and respiratoryweakness with or without cardiomyopathy. The objective of our review was tosystematically evaluate the quality of evidence from the literature toformulate evidence-based guidelines for the diagnosis and management ofpatients with Pompe disease. The literature review was conducted usingpublished literature, clinical trials, cohort studies and systematicreviews. Cardinal treatment decisions produced seven management guidelinesand were assigned a GRADE classification based on the quality of evidence inthe published literature. In addition, six recommendations were made basedon best clinical practices but with insufficient data to form a guideline.Studying outcomes in rare diseases is challenging due to the small number ofpatients, but this is in particular the reason why we believe that informedtreatment decisions need to consider the quality of the evidence.

Acridine orange fluorochrome of nucleic acids was applied to sections of cerebral tissue from 20 patients showing acute or chronic reactive gliosis. The results were compared with the findings in 39 well differentiated and malignant astrocytomas. The orange cytoplasmic fluorescence of ribonucleic acid is lacking in reactive astrocytes of all ages including gemistocytes, but is uniformly present in astrocytoma cells. Acridine orange is a useful supplementary stain for distinguishing between astrocytosis and astrocytoma, paticularly for small cerebral biopsies showing scattered or diffusely infiltrating pleomorphic glial cells.

An infant of a diabetic mother lived 13 days after birth. She had a small dysplastic 12.6 gm. brain, partly forming a frontal encephalocele. The uncleaved forebrain contained a mass of poorly organized heterotopic cerebellar cortex. The cerebellum itself had normal lamination, but was small and continuous with the dysplastic tissue. The ventricular system was absent except for a few midline ependymal rosettes, and the cerebral cortex was not developed. The cerebellar dysplasia resembled a proliferative and invasive lesion by its rostral extension.

The muscles of four infants with cerebro-hepato-renal (Zellweger) syndrome were studied during life and/or at necropsy. A mitochondrial myopathy was demonstrated, similar to mitochondrial alterations demonstrated in liver and brain in this disease. Muscle fibers with red-staining subsarcolemmal aggregates were identified with Gomori trichome stain in two cases. Subsarcolemmal and intermyofibrillar zones of increased concentrations of NADH-TR, SDH, and cytochrome-c-oxidase activity were demonstrated histochemically in all four cases. Degenerative and cytoarchitectural changes in muscle fibers were not found. Ultrastructural studies showed large aggregates of mitochondria and increased lipid in the subsarcolemmal and intermyofibrillar spaces. Degenerative changes in mitochondria and lipid also were demonstrated, but paracrystalline inclusions were not seen. The distribution of these changes was not uniform between patients or between different muscles in the same patient. The diaphragm was affected more severely than proximal or distal muscles of the extremities. Direct involvement of muscle mitochondria in this disease may interfere with energy metabolism and contribute to the clinical findings of hypotonia, weakness, and respiratory insufficiency. The muscle biopsy with histochemistry and electron microscopy may be used as a diagnostic adjunct in suspected cases, but the variation encountered dictates caution in the interpretation of negative findings.