The outcome of treated patients remains heterogeneous despite attempts at immunomodulation. Failure to thrive at baseline and left ventricular dilation appear to be associated with poorer outcomes.
Glycogen accumulation in the central nervous system of patients with classical infantile onset Pompe disease (IOPD) has been a consistent finding on the few post-mortems performed. While delays in myelination and a possible reduction in processing speed have previously been noted, it has only been recently that the potential for clinically significant progressive white matter disease has been noted. The limited reports thus far published infer that in some IOPD patients, this manifests as intellectual decline in the second decade of life. We present a CRIM negative patient, immunomodulated with rituximab and methotrexate at birth, who despite an initial good clinical response to ERT, at the age of just under 4 years, presented with evolving spasticity in the lower limbs. The investigation of which revealed progressive central nervous system involvement. Given both the earlier onset of the symptoms and consanguineous familial pedigree, extensive biochemical and genetic investigation was undertaken to ensure no alternative pathology was elucidated. In light of these findings, we review the radiology and post-mortems of previous cases and discuss the potential mechanisms that may underlie this presentation.
Pompe's disease or glycogen storage disease type II is a genetic disorder affecting skeletal and cardiac muscle. The infantile form is associated with gross hypertrophic cardiomegaly and death in the early years. General anesthesia is associated with potential major morbidity in these patients. We present our experience of regional anesthetic blocks used in five patients with the infantile form of glycogen storage disease type II with and without sedation for 11 surgical procedures during a clinical trial of replacement therapy for this condition. Both femoral nerve blockade and caudal epidural blockade were used with good result. The relative merits of the type of block are discussed in addition to the choice of sedation and risks of general anesthesia. The avoidance of general anesthesia in the newly presenting patient with Pompe's disease may reduce potential morbidity until enzyme replacement has been established.
The orientation of the muscle fiber bundles within the mammalian left ventricle was examined in a variety of mammals. The hearts were arrested in situ in animals with an intact thorax by means of an isotonic K+ solution perfused via the aorta and coronaries. The hearts were then fixed by formalin perfusion through the same vessels and the hearts embedded in gelatin. Serial sections were prepared perpendicular to the Apex-Valve axis. On close examination, the muscle fibers show the change in orientation from endocardium to epicardium previously described by others. In addition, the clefts and voids of the inner one-third to inner one-half of the left ventricular wall add another dimension to the fiber direction: the fiber bundles appear to take a curving course from the middle of the wall to the endocardial surface. This pattern was visible in all studied hearts. Speculations are made on the significance of this anatomic arrangement.
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