Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease

Abstract

Our data show for the first time that asymptomatic and atraumatic vertebral fractures occur frequently in late-onset Pompe disease patients without a significant impairment of bone mass. Screening for asymptomatic vertebral fractures should be routinely performed in Pompe disease irrespective of the disease severity. Fracture risk should be confirmed in longitudinal studies.

Central nervous system involvement in late‐onset Pompe disease: clues from neuroimaging and neuropsychological analysis

“…Similarly to other lysosomal storage disorders (i.e. Fabry disease), vascular abnormalities have also been described in LOPD with a prominent involvement of the cerebrovascular system, mainly characterized by dilatation and increased tortuosity of the vertebrobasilar artery (VBA) up to the presence of aneurysms [3][4][5][6][7][8][9][10][11][12][13][14].…”

“…Late‐onset Pompe disease (LOPD) is usually characterized by a proximal/axial muscle weakness, associated early or later with respiratory impairment or pre‐symptomatic hyperCKemia, often with myalgia and/or easy fatigability . For a long time, it has been considered only as a muscle disorder but several reports have demonstrated the frequent involvement of other tissues, highlighting the multisystem nature of the disease .…”

“…Late-onset Pompe disease (LOPD) is usually characterized by a proximal/axial muscle weakness, associated early or later with respiratory impairment or pre-symptomatic hyperCKemia, often with myalgia and/or easy fatigability [2]. For a long time, it has been considered only as a muscle disorder but several reports have demonstrated the frequent involvement of other tissues, highlighting the multisystem nature of the disease [3][4][5][6][7][8][9]. The central nervous system involvement causing motor dysfunction has been evaluated in a few studies in Pompe (GaaÀ/À) mouse spinal cord, suggesting a widespread neuropathology [10,11].…”

Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)

“…In the last few years, several reports highlighted the systemic nature of Pompe disease, demonstrating glycogen accumulation and tissue damage in many organs and systems: central and peripheral nervous system (Montagnese et al 2015;DeRuisseau et al 2009), heart (Hobson-Webb et al 2012), lung (Gaeta et al 2013), bone (Bertoldo et al 2015), gastrointestinal tract (Karabul et al 2014), hearing system (Musumeci et al 2012) and bladder (Remiche et al 2012). The involvement of the cerebrovascular system has been documented, mostly, in sporadic cases presenting aneurysms, vertebrobasilar dolichoectasia (VBD) or dilative arteriopathy (Table 1).…”

Lack of vigilance is the main factor of late diagnosis of glycogen storage disease type II in the Republic of Kazakhstan

“…Для БППН характерны дистрофические изменения мышц, причем это каса-ется вовлечения паравертебральной мускулатуры уже на ранних стадиях болезни [10,11]. Вовлечение в па-тологический процесс параспинальных мышц с раз-витием слабости, а также остеопороз, как следствие основного процесса у пациентов с гликогенозом 2-го типа, часто сопровождаются патологическими пере-ломами тел позвонков [12]. Обнаруженный у пациент-ки патологический перелом тела позвонка L4 необ-ходимо рассматривать следствием изменения минеральной плотности костных структур и слабости паравертебральных мышц на фоне прогрессирования основного патологического процесса.…”