Teaching Video NeuroImages Neurology Resident and Fellow Section A man with bent spine syndrome Teaching Video NeuroImages Neurology Resident and Fellow Section © 2017 American Academy of Neurology

Vignette A 56-year-old man presented with bent spine syndrome (BSS), an abnormal trunk anteroflexion of at least 45° which increases during walking and abates in supine position (Figure 1). He complained of axial weakness that progressively forced him to walk stretching his arms backward since his 20s (Video 1). Whole body muscle MRI revealed severe fatty replacement of lumbar paraspinal (Figure 2) and iliopsoas muscles. Spirometry showed restrictive ventilatory defect. Periodic acid-Schiff positive vacuoles and reduced acid alpha-glucosidase activity were demonstrated in muscle biopsy. Magrinelli F, et al. © 2017 American Academy of Neurology

Video Imaging Magrinelli F, et al. Video 1 Video 1: A 56-year-old man with genetically proven late-onset Pompe disease showing bent spine syndrome. He complained of axial weakness, which progressively forced him to walk stretching his arms backward since his 20s. Magrinelli F, et al. © 2017 American Academy of Neurology

Imaging Magrinelli F, et al. Figure 1 Figure 2 Figure 1: Clinical photographs of the patient with BSS (A) that is markedly improved on supine position (B). Figure 2: Sagittal T1-weighted MRI of the lumbar spine showing severe fatty replacement of lumbar paraspinal muscles. Magrinelli F, et al. © 2017 American Academy of Neurology

A man with bent spine syndrome Histological, biochemical and molecular findings were consistent with the diagnosis of late-onset Pompe disease (LOPD). BSS is described in parkinsonism and myopathies.1 While lumbar hyperlordosis is a typical feature of LOPD, other trunk abnormalities may appear early in the disease. LOPD must be included in the differential diagnosis of bent spine syndrome.2 References: 1. Azher SN, Jankovic J. Camptocormia: pathogenesis, classification, and response to therapy. Neurology 2005;65(3):355-359. 2. Taisne N, Desnuelle C, Juntas Morales R, et al. Bent spine syndrome as the initial symptom of late-onset Pompe disease. Muscle Nerve Epub 2016 Nov 15. Magrinelli F, et al. © 2017 American Academy of Neurology