Glycogenosis Type Ii (Pompe)*– The Fourth Autopsy Case in Japan –

Abstract

An autopsy case of glycogenosis type II (Pompe's disease) was reported. The case is that of the fourth autopsy of this type of glycogen storage disease, caused by acid maltase (α‐1, 4‐glucosidase) deficiency, in Japan. In addition to routine histopathological studies on skeletal muscle biopsy and autopsy, also were employed biochemical analyses of the enzyme activities in peripheral white blood cells and skeletal muscle, scoring method of a PAS‐positlve granule In circulating lymphocytes, and electron microscopic studies on muscle biopsy specimen, and cardiac muscle and liver obtained at autopsy. Cardiomegaly is one of the most significant clinical signs of the disease and biochemical measurement of the enzyme activity in cells or tissues is clinically of most diagnostic value. Gytological study by scoring PAS‐posltive granules in circulating lymphocytes is also of great value and is a simple method for aid in establishing a clinical diagnosis. Special attention should be paid to this case on the point of a tendency of thrombus formation and peripheral vascular disorder as complications of the disease, which caused aneurysm and thrombosis of the meningeal arteries and renal infarction, possibly due to degenerative process in the vascular medial smooth muscle cells by excessive deposition of glycogen.

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

“…The pattern of accumulation included neurons and glial cells of the white matter, brainstem, and cerebellum, with relative sparing of cerebellar Purkinje cells. Glycogen accumulation has previously been reported throughout the central nervous system (Araoz et al 1974;Sakurai et al 1974;Asukata et al 1976;Nakamura et al 1979;Teng et al 2004;Thurberg et al 2006). The decedents also had extensive accumulation in anterior horn cells of the spinal cord and in intestinal ganglion cells, as described previously (Thurberg et al 2006;Martini et al 2001;Teng et al 2004).…”

Facial‐muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy

“…In infants with Pompe disease, it has been shown that glycogen accumulates in the tongue of an untreated infant (Sakurai et al 1974), but the effect of ERT on bulbar muscle pathology in these infants has not been studied. Only one case report addresses the effect of ERT on bulbar muscle pathology in an adult patient with Pompe disease and showed that, 21 months after treatment with ERT, residual storage of glycogen remained in the oesophagus (Kobayashi et al 2010).…”

CRIM‐negative infantile Pompe disease: 42‐month treatment outcome

“…The phenotype of Pompe disease is heterogeneous and primarily characterized by accumulation of glycogen in skeletal and cardiac muscle associated with progressive skeletal muscle weakness in all variants of the disease and by rapidly progressive hypertrophic cardiomyopathy and early death at about the age of 1 year in patients with the severe infantile variant (Hirschhorn and Reuser 2001;Kishnani and Howell 2004;Kishnani et al 2006a). Glycogen accumulation, however, has also been well documented in central (CNS) and peripheral (PNS) nervous systems (Gambetti et al 1971;Mancall et al 1965;Martin et al 1973;Sakurai et al 1974), also leading to cochlear dysfunction with subsequent hearing loss . In patients with clinical symptoms suggestive for Pompe disease, diagnosis is based on marked reduction of GAA activity in purified peripheral blood lymphocytes (Winchester et al 2008).…”