JNS-13167; No of Pages 2 Journal of the Neurological Sciences xxx (2014) xxx–xxx
Contents lists available at ScienceDirect
Journal of the Neurological Sciences journal homepage: www.elsevier.com/locate/jns
Letter to the Editor Neuroimaging findings in Hunter disease Keywords: Hunter disease Brain MRI Peripheral nerve sonography
A 36 year-old man previously diagnosed with Hunter disease (Supplemental Figure; panels A & B) on the basis of biochemical and molecular genetic findings was presented with gait impairment and progressive hand weakness. Neurological examination disclosed bilateral extensor plantar responses and bilateral first interosseous and abductor pollicis brevis atrophy (Supplemental Figure; panels C & D). Brain MRI showed Virchow–Robin perivascular space enlargement, “honeycomb-like” appearance of basal ganglia and thalami, diffuse periventricular and subcortical white matter hyperintensities (Fig. 1; panels A & B). Cervical MRI disclosed cranio-cervical junction malformation with dens subluxation, periodontoid tissue thickening, bullet shaped vertebrae and spinal canal stenosis (Fig. 1; panel C). Peripheral nerve sonography documented bilateral median and ulnar nerve compression at the level of carpal and cubital tunnel respectively that was confirmed by nerve conduction studies (Fig. 1; panel D). The present case highlights that the complex, multi-system involvement of Hunter disease requires comprehensive neuroimaging studies including brain and spinal cord MRI followed by peripheral nerve sonography [1–4]. Glycosaminoglycan deposition at the cubital or carpal tunnel as well as at the soft tissue around the odontoid process may result in the combination of multiple entrapment neuropathies with cervical myelopathy that can manifest with a clinical presentation including symptoms and signs of both upper and lower motor neuron dysfunctions [1–3]. In addition glycosaminoglycan storage in basal ganglia and around the brain vessels may lead to diffuse white-matter hyperintensities and marked enlargement of Virchow–Robin perivascular spaces that can be visualized with the characteristic “honeycomb-like” appearance on brain MRI [1,2]. Supplementary data to this article can be found online at http://dx. doi.org/10.1016/j.jns.2014.04.029.
Authorship contribution statement Georgios Tsivgoulis: Drafting and revising the manuscript. Matilda A. Papathanasiou: Data collection (review of neuroimaging findings) and critical comments during manuscript revision. Christos Krogias: Data collection (neurosonology examination) and critical comments during manuscript revision. Panagiotis Kokotis: Data collection (electrophysiological examination) and critical comments during manuscript revision.
Maria Chondrogianni: Data collection and critical comments during manuscript revision. Chrissoula Liantinioti: Data collection and critical comments during manuscript revision. Sokratis G. Papageorgiou: Data collection (neuropsychological evaluation) and critical comments during manuscript revision. Helen Michelakakis: Data collection (biochemical & molecular diagnosis) and critical comments during manuscript revision. Leonidas Stefanis: Study supervision and revising the manuscript. Disclosures All authors report no disclosures. Acknowledgments Dr Georgios Tsivgoulis has been supported by European Regional Development Fund — Project FNUSA-ICRC (No. CZ.1.05/1.1.00/02.0123). References [1] Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol 2013;34:5–13. [2] Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R. Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 2011;34:763–80. [3] Vedolin L, Schwartz IV, Komlos M, Schuch A, Azevedo AC, Vieira T, et al. Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings. Neurology 2007;69:917–24. [4] Finn CT, Vedolin L, Schwartz IV, Giugliani R, Haws CA, Prescot AP, et al. Magnetic resonance imaging findings in Hunter syndrome. Acta Paediatr Suppl 2008;97:61–8.
Georgios Tsivgoulis Second Department of Neurology, University of Athens, School of Medicine, “Attikon” University Hospital, Athens, Greece International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic Corresponding author at: Second Department of Neurology, University of Athens, School of Medicine, Iras 39, Gerakas Attikis 15344, Athens, Greece. Tel.: +30 6937178635; fax: +30 2105832471. E-mail address: [email protected]. Matilda A. Papathanasiou Second Department of Radiology, University of Athens, School of Medicine, “Attikon” University Hospital, Athens, Greece Christos Krogias Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany
http://dx.doi.org/10.1016/j.jns.2014.04.029 0022-510X/© 2014 Published by Elsevier B.V.
Please cite this article as: Tsivgoulis G, et al, Neuroimaging findings in Hunter disease, J Neurol Sci (2014), http://dx.doi.org/10.1016/ j.jns.2014.04.029
2
Letter to the Editor
Fig. 1. Brain MRI showing characteristic honeycomb-like appearance of basal ganglia and thalami (arrows in panel A; axial T2 sequence) with diffuse white-matter hyperintensities (panel B; axial FLAIR sequence). Cervical MRI (panel C; sagittal T2 sequence) depicts dens subluxation (arrow) and periodontoid tissue thickening (arrowhead) causing spinal canal stenosis. Peripheral nerve sonography discloses marked median nerve enlargement [panel D1; B-mode sonography transverse plane: right median nerve cross-sectional area: 0.275 cm2 (normal values b0.11 cm2)] and nerve-compression under flexor retinaculum at the carpal tunnel (arrowheads panel D2; B-mode sonography longitudinal plane).
Panagiotis Kokotis First Department of Neurology, University of Athens, School of Medicine, “Eginition” University Hospital, Athens, Greece Maria Chondrogianni Chrissoula Liantinioti Sokratis G. Papageorgiou Second Department of Neurology, University of Athens, School of Medicine, “Attikon” University Hospital, Athens, Greece
Helen Michelakakis Department of Enzymology and Cellular Function, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece Leonidas Stefanis Second Department of Neurology, University of Athens, School of Medicine, “Attikon” University Hospital, Athens, Greece 7 April 2014 Available online xxxx
Please cite this article as: Tsivgoulis G, et al, Neuroimaging findings in Hunter disease, J Neurol Sci (2014), http://dx.doi.org/10.1016/ j.jns.2014.04.029
Contents lists available at ScienceDirect
Journal of the Neurological Sciences journal homepage: www.elsevier.com/locate/jns
Letter to the Editor Neuroimaging findings in Hunter disease Keywords: Hunter disease Brain MRI Peripheral nerve sonography
A 36 year-old man previously diagnosed with Hunter disease (Supplemental Figure; panels A & B) on the basis of biochemical and molecular genetic findings was presented with gait impairment and progressive hand weakness. Neurological examination disclosed bilateral extensor plantar responses and bilateral first interosseous and abductor pollicis brevis atrophy (Supplemental Figure; panels C & D). Brain MRI showed Virchow–Robin perivascular space enlargement, “honeycomb-like” appearance of basal ganglia and thalami, diffuse periventricular and subcortical white matter hyperintensities (Fig. 1; panels A & B). Cervical MRI disclosed cranio-cervical junction malformation with dens subluxation, periodontoid tissue thickening, bullet shaped vertebrae and spinal canal stenosis (Fig. 1; panel C). Peripheral nerve sonography documented bilateral median and ulnar nerve compression at the level of carpal and cubital tunnel respectively that was confirmed by nerve conduction studies (Fig. 1; panel D). The present case highlights that the complex, multi-system involvement of Hunter disease requires comprehensive neuroimaging studies including brain and spinal cord MRI followed by peripheral nerve sonography [1–4]. Glycosaminoglycan deposition at the cubital or carpal tunnel as well as at the soft tissue around the odontoid process may result in the combination of multiple entrapment neuropathies with cervical myelopathy that can manifest with a clinical presentation including symptoms and signs of both upper and lower motor neuron dysfunctions [1–3]. In addition glycosaminoglycan storage in basal ganglia and around the brain vessels may lead to diffuse white-matter hyperintensities and marked enlargement of Virchow–Robin perivascular spaces that can be visualized with the characteristic “honeycomb-like” appearance on brain MRI [1,2]. Supplementary data to this article can be found online at http://dx. doi.org/10.1016/j.jns.2014.04.029.
Authorship contribution statement Georgios Tsivgoulis: Drafting and revising the manuscript. Matilda A. Papathanasiou: Data collection (review of neuroimaging findings) and critical comments during manuscript revision. Christos Krogias: Data collection (neurosonology examination) and critical comments during manuscript revision. Panagiotis Kokotis: Data collection (electrophysiological examination) and critical comments during manuscript revision.
Maria Chondrogianni: Data collection and critical comments during manuscript revision. Chrissoula Liantinioti: Data collection and critical comments during manuscript revision. Sokratis G. Papageorgiou: Data collection (neuropsychological evaluation) and critical comments during manuscript revision. Helen Michelakakis: Data collection (biochemical & molecular diagnosis) and critical comments during manuscript revision. Leonidas Stefanis: Study supervision and revising the manuscript. Disclosures All authors report no disclosures. Acknowledgments Dr Georgios Tsivgoulis has been supported by European Regional Development Fund — Project FNUSA-ICRC (No. CZ.1.05/1.1.00/02.0123). References [1] Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol 2013;34:5–13. [2] Manara R, Priante E, Grimaldi M, Santoro L, Astarita L, Barone R. Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy. J Inherit Metab Dis 2011;34:763–80. [3] Vedolin L, Schwartz IV, Komlos M, Schuch A, Azevedo AC, Vieira T, et al. Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings. Neurology 2007;69:917–24. [4] Finn CT, Vedolin L, Schwartz IV, Giugliani R, Haws CA, Prescot AP, et al. Magnetic resonance imaging findings in Hunter syndrome. Acta Paediatr Suppl 2008;97:61–8.
Georgios Tsivgoulis Second Department of Neurology, University of Athens, School of Medicine, “Attikon” University Hospital, Athens, Greece International Clinical Research Center, St. Anne's University Hospital, Brno, Czech Republic Corresponding author at: Second Department of Neurology, University of Athens, School of Medicine, Iras 39, Gerakas Attikis 15344, Athens, Greece. Tel.: +30 6937178635; fax: +30 2105832471. E-mail address: [email protected]. Matilda A. Papathanasiou Second Department of Radiology, University of Athens, School of Medicine, “Attikon” University Hospital, Athens, Greece Christos Krogias Department of Neurology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany
http://dx.doi.org/10.1016/j.jns.2014.04.029 0022-510X/© 2014 Published by Elsevier B.V.
Please cite this article as: Tsivgoulis G, et al, Neuroimaging findings in Hunter disease, J Neurol Sci (2014), http://dx.doi.org/10.1016/ j.jns.2014.04.029
2
Letter to the Editor
Fig. 1. Brain MRI showing characteristic honeycomb-like appearance of basal ganglia and thalami (arrows in panel A; axial T2 sequence) with diffuse white-matter hyperintensities (panel B; axial FLAIR sequence). Cervical MRI (panel C; sagittal T2 sequence) depicts dens subluxation (arrow) and periodontoid tissue thickening (arrowhead) causing spinal canal stenosis. Peripheral nerve sonography discloses marked median nerve enlargement [panel D1; B-mode sonography transverse plane: right median nerve cross-sectional area: 0.275 cm2 (normal values b0.11 cm2)] and nerve-compression under flexor retinaculum at the carpal tunnel (arrowheads panel D2; B-mode sonography longitudinal plane).
Panagiotis Kokotis First Department of Neurology, University of Athens, School of Medicine, “Eginition” University Hospital, Athens, Greece Maria Chondrogianni Chrissoula Liantinioti Sokratis G. Papageorgiou Second Department of Neurology, University of Athens, School of Medicine, “Attikon” University Hospital, Athens, Greece
Helen Michelakakis Department of Enzymology and Cellular Function, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece Leonidas Stefanis Second Department of Neurology, University of Athens, School of Medicine, “Attikon” University Hospital, Athens, Greece 7 April 2014 Available online xxxx
Please cite this article as: Tsivgoulis G, et al, Neuroimaging findings in Hunter disease, J Neurol Sci (2014), http://dx.doi.org/10.1016/ j.jns.2014.04.029
