Late-onset acid maltase deficiency associated with intracranial aneurysm

Abstract

The autopsy findings in a patient with late-onset acid maltase deficiency who died following rupture of a basilar artery aneurysm are reported. The patient developed muscular weakness and wasting at the age of 20 years and died 9 years later after suddenly falling into a coma. At autopsy a giant fusiform aneurysm was found in the basilar artery which had ruptured at the base of the pons, leading to a large haematoma in the pons. The cerebral arteries and arterioles showed extensive vacuolar degeneration of smooth muscle cells in the media. It is suggested that the aneurysm was induced by fragility of the arterial wall due to this smooth muscle change.

Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities

“…We recently reported the presence of increased aortic stiffness in a subset of patients from this study compared to controls, possibly due to glycogen deposition in the smooth muscle cells of the aortic wall [38]. In addition, there are several reports on the occurrence of aneurysms in Pompe disease which may be related to the same phenomenon [39,40]. At present, the clinical consequences of these findings are not fully clear and need further research.…”

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).…”

“…Dilation, elongation and tortuosity (dolichoectasia) of large cerebral arteries were also reported. Cerebrovascular symptoms in adults with Pompe disease are headache, cerebral compression symptoms, ischemia or haemorrhage (Matsuoka et al 1988;Kretzschmar et al 1990;Laforêt et al 2008;Sacconi et al 2010).…”