Pompe's Glycogen Storage Disease
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چکیده
The clinical spectrum is continuous and broad and three major forms are recognised: infantile, juvenile and adult-onset. [1] In the infantile form, accumulation of glycogen in cardiac muscle leads to cardiac failure. Accumulation may also occur in the liver, which results in hepatomegaly and elevation of hepatic enzymes. Glycogen accumulation in muscle and peripheral nerves causes hypotonia and weakness. Glycogen deposition in blood vessels may result in intracranial aneurysms.
منابع مشابه
Generalized glycogenosis type II (Pompe's disease).
Nihill, M. R., Wilson, D. S., and Hugh-Jones, K. (1970). Archives of Disease in Childhood, 45, 122. Generalized glycogenosis type II (Pompe's disease). The characteristic clinical features of 2 cases of Pompe's disease are presented, namely, signs of a cardiomyopathy with skeletal hypotonia and a characteristic ECG with a short PR interval and high voltage QRS complexes. Glycogen storage diseas...
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Pompe's disease (acid maltase deficiency, glycogen storage disease type II) is an autosomal recessive disorder caused by a deficiency of lysosomal acid α-1,4-glucosidase, resulting in excessive accumulation of glycogen in the lysosomes and cytoplasm of all tissues, most notably in skeletal muscles. We present a case of adult-onset Pompe's disease with progressive proximal muscles weakness over ...
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BACKGROUND Pompe's disease is a glycogen storage disease that manifests as progressive neuropathy, and myopathy. There are a few reports of vasculopathy in this disease, thought to be from small- and medium-vessel arteriopathy. We present a case of late-onset Pompe's disease with microhemorrhages and review of the pertinent literature. METHODS We describe a case of microhemorrhages in a patie...
متن کاملAcid maltase deficiency--Pompe's disease.
Mutation in genes encoding for proteins involved in glycogen synthesis, degradation or regulation results in various inborn errors of glycogen metabolism. The disorders that result in abnormal storage of glycogen are known as glycogen storage diseases (GSD). We report a rare and interesting case of a young boy who presented with generalized weakness and reduced muscle bulk since childhood. He w...
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The anaesthetic management of children with glycogen-storage disease type IIa (Pompe's disease) presents a variety of challenges. A modification of a femoral nerve block, the inguinal paravascular block, as described by Winnie, was used in conjunction with intravenous ketamine to provide anaesthesia for a diagnostic muscle biopsy in a 5.5-month-old infant with Pompe's disease. A peripheral nerv...
متن کاملPompe's disease or type IIa glycogenosis.
This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final ...
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