Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

Laforêt, Pascal; Petiot, P.; Nicolino, Marc; David, Olivier; Caillaud, Catherine; Pellegrini, N.; Froissart, Roseline; Petitjean, T.; Maire, I.; Chabriat, Hugues; Hadrane, L.; Annane, Djillali; Eymard, B.

doi:10.1212/01.wnl.0000313367.09469.13

Cited by 87 publications

(61 citation statements)

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“…This is a higher incidence that is reported for the general population, where the incidence of vertebrobasilar dolichoectasia was between 0.3 and 4.4% (Yu et al 1982;Ubogu and Zaidat 2004). The predominance of dolichoectasia in the vertebrobasilar circulation has already been reported in adult Pompe patients (Laforêt et al 2008;Sacconi et al 2010). In our patients, however, the MCA and the distal ICA were also enlarged although the diameters of the proximal ICA and CCA were normal, implicating a more widespread, but not generalised, arterial dilation.…”

Section: Discussionmentioning

confidence: 64%

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Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

et al. 2014

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Objective: Cerebrovascular abnormalities have been reported in adult patients with Pompe disease. The objective was to study these abnormalities by (1) determining the diameter and mean flow velocity (MFV) of large cerebral arteries and (2) estimating cerebral blood flow (CBF), resistance index (RI) and cerebrovascular reactivity (CVR) as functions of resistance vessels.Methods: In ten adults with Pompe disease and twenty controls, the diameter, peak systolic (PSV) and enddiastolic velocities (EDV) of arteries supplying the brain were quantified by MR angiography and sonography. MFV, RI and CBF were calculated. CVR in the middle cerebral artery (MCA) was determined by hyperventilation and acetazolamide injection.Results: MR angiography revealed dilation of cerebral arteries predominantly in the posterior circulation. Dilative arteriopathy was found in three patients; two of them showed vertebrobasilar dolichoectasia. Despite of the dilative arteriopathy, the MFV was normal, indicating increased CBF and dilated resistance vessels. RI of all examined arteries and CVR of MCA were normal.Conclusion: The data suggest that dilation of small and large cerebral arteries is a common feature in adults with Pompe disease. Increased CBF might be the consequence of dilated resistance vessels. However, dysfunction of resistance vessels was rarely found.Synopsis: In adults with Pompe disease, dilation of small and large cerebral arteries is a common feature and might be associated with increased cerebral blood flow.

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Section: Discussionmentioning

confidence: 64%

“…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).…”

Section: Introductionmentioning

confidence: 99%

Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

et al. 2014

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“…Dilated arteriopathy has been reported in adults with LOPD (Quenardelle et al 2014;El-Gharbawy et al 2011), and very recently in a longterm survivor of infantile Pompe disease (Patel et al 2013), in addition to dolichoectasia of the basilar artery and ectasia of the internal carotids (Sacconi et al 2010;Laforêt et al 2008). Glycogen accumulation in smooth muscle may affect cellular contractility and thus weaken blood vessel walls.…”

Section: Discussionmentioning

confidence: 99%

“…Some of the complications, such as bowel and urinary incontinence, arterial aneurysms, and dysphagia, overlap with known complications in late-onset Pompe disease (LOPD) (El-Gharbawy et al 2011;Prater et al 2012;Hobson-Webb et al 2012;Laforêt et al 2008). Additional findings, such as cardiac arrhythmias and ocular refractory errors, are emerging (Prakalapakorn et al 2014).…”

Section: Introductionmentioning

confidence: 99%

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

2015

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“…In advanced disease patient gets wheel chair dependent and presents diaphragmatic dysfunction and requires invasive ventilation or non-invasive ventilation (NIV) (12 or more hours daily) [7]. There are reports of basilar dolichoectasia [8,9], cerebral microbleeds [10], aneurysms [11,12], intraparenchymal haemorrhage [10] and aneurysmal thrombosis [13] in patients with LOPD. Microscopic glycogen-laden molecules deposits in arteries is thought to be underlying pathology.…”

Section: Introductionmentioning

confidence: 99%

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Stępień

Hendriksz

Roberts

et al. 2016

Molecular Genetics and Metabolism

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Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in life. We describe a retrospective observational cohort study including 22 patients with LOPD. The cohort was assessed at baseline before Enzyme Replacement Therapy (ERT) with alglucosidase alpha (20 mg/kg biweekly) was com-menced and subsequently relevant information was collected at 2, 4 and 5 years later. The median age of the patients at study entry was 44 years (16-64 years), with median disease duration of 11.5 years (4-31 years). At baseline, 10 patients (45%) could walk without support, 12 (55%) could walk with unilateral or bilateral sup-port including 3/12 were wheelchair bound. Mean predicted FVC % was 55.7 (95% CI 45-66) of predicted normal at baseline and showed no significant change after 5 years (54.6 (95% CI 43-66)), (all p = 0.9815). Mean FVC %supine was 41.8 (95% CI 33.8-49) of predicted normal at baseline and remained significantly unchanged at 5 years (48.4 (95% CI 37-59.6)), (all p = 0.8680). The overnight non-invasive ventilator dependence increased by 18.2% as compared with baseline and requirement of mobility aids increased during this period by 5.2% as compared with the baseline. Mean walking distance at 6 min walk test was 411.5 (95% CI 338-485) at baseline, 266.5 (95% CI 187-346) m at 2 years, 238.6 (95% CI 162-315) m at 4 years and 286.8 (95% CI 203-370) m at 5 years (p = 0.1981; ANOVA was completed only for 14 patients). A gradual decline in FVC% predicted was noted only in four cases and a decline in FVC% supine in two other. Only one patient showed a decline in both pulmonary function tests. In all remaining cases (17/22) respiratory function remains stable. In conclusion overall pulmonary function tests and mobility remained stable for 5 years in majority of patients on ERT. However, in some patients they continued to decline in spite of ERT resulting in increased number of patients requiring ventilation and increase wheel chair dependence at the end of 5 years.

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Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

Abstract: These observations, combined with previously reported cases, confirm that Pompe disease should be recognized as a predisposing condition to dilative arteriopathy and cerebral aneurysm formation, although the real incidence of these vascular complications remains unknown.

Cited by 87 publications

References 8 publications

Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

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

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

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