Alpha‐glucosidase deficiency and basilar artery aneurysm: Report of a sibship

Abstract

Glycogen deposition in vascular smooth muscle has been demonstrated previously in alpha-glucosidase deficiency but has not been clinically significant. Three sons of healthy, nonconsanguineous parents developed progressive proximal muscular weakness secondary to alpha-glucosidase deficiency. Each patient developed a fusiform basilar artery aneurysm, which was complicated by fatal rupture in two patients and a cerebellar infarction in the third. Postmortem examination demonstrated severe vacuolation of skeletal muscle, liver, and vascular smooth muscle with accumulation of periodic acid-Schiff-positive, diastase-sensitive material. In the surviving brother, similar glycogen deposition was demonstrated in the smooth muscle of the superficial temporal artery. Basilar artery aneurysm formation in this sibship may be a consequence of alpha-glucosidase deficiency.

Pompe disease diagnosis and management guideline

“…As outlined in “General Medical Care” all patients should be thoroughly evaluated for sources of infection and considered for empiric treatment until a negative workup for infectious and inflammatory disorders is completed. There are also reports of glycogen accumulation in vascular smooth muscle resulting in aneurysms/rupture of blood vessels such as the basilar artery87,88 internal carotid artery and medial cerebral arteries in patients with late-onset Pompe disease 89,90. This has resulted in focal weakness and in the extreme instance even death.…”

Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

“…However, our adult Pompe patients had no to mild atherosclerosis and normal kidney function, and, as reported, most were younger (Yu et al 1982;Ubogu and Zaidat 2004;Ichikawa et al 2009). In some families with Pompe disease, the dilative arteriopathy accumulates at a premature age (Makos et al 1987;Matsuoka et al 1988;Cipullo et al 2013), indicating the importance of hereditary factors. The presence of cardiovascular risk factors was distributed evenly among patients and controls.…”

“…The diameters of distal ICA, BA and V4 increase with the duration of disease. In adult Pompe patients, dilative arteriopathy was histopathologically associated with glycogen accumulations, extensive vacuolar degeneration and necrosis within the vessel wall (Makos et al 1987;Matsuoka et al 1988;Kretzschmar et al 1990). Additionally, vasodilation, elongation and tortuosity of arteries supplying the brain are reported as consequences of increased CBF (Sho et al 2004;Hoi et al 2008).…”

Thrombus in Vertebrobasilar Dolichoectatic Artery Treated with Intravenous Urokinase

“…Most patients are men older than 50 years with atherosclerosis and hypertension [4]. Dolichoectasia has also been described, however, in patients without atherosclerosis, and in children [1, 25, 26]. Pathological examination in young patients with dolichoectasia has shown deficiencies in the muscular and internal elastic layers with irregular thickness of the media and regions of fibrosis.…”