Top

BMC Neurology

Published in:

01-12-2020 | Myotonic Dystrophy | Case report

Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review

Authors: Junyang Wang, Ming Liu, Wenjie Shang, Zhongqin Chen, Guoping Peng

Published in: BMC Neurology | Issue 1/2020

Abstract

Background

Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognitive impairment and urinary incontinence. The association between DM1 and NPH is extremely rare. We report a Chinese female patient with DM1 in association with NPH.

Case presentation

The patient presented with a history of 3-year of walking instability and cognitive impairment. Her brain MRI showed ventriculomegaly with normal cerebrospinal fluid (CSF) pressure and the CSF tap-test was positive, which indicated the diagnosis of probable NPH. DM1 was confirmed by genetic testing.

Conclusions

Four patients with DM1-NPH association were found before. The association between NPH and DM1 may not be just a coincidence, NPH may occur in DM1 later in life and it is vital to recognize the association as a shunt surgery may improve patients’ quality of life.

Udd B, Krahe R. The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol. 2012;11(10):891–905. https://doi.org/10.1016/S1474-4422(12)70204-1.CrossRefPubMed

Heatwole C, Bode R, Johnson N, Quinn C, Martens W, McDermott MP, et al. Patient-reported impact of symptoms in myotonic dystrophy type 1 (PRISM-1). Neurology. 2012;79(4):348–57. https://doi.org/10.1212/WNL.0b013e318260cbe6.CrossRefPubMedPubMedCentral

Meola G. Myotonic dystrophies. Curr Opin Neurol. 2000;13(5):519–25.CrossRef

Nagamitsu S, Ashizawa T. Myotonic dystrophies. Adv Neurol. 2002;88:293–314.PubMed

Portwood MM, Wicks JJ, Lieberman JS, Duveneck MJ. Intellectual and cognitive function in adults with myotonic muscular dystrophy. Arch Phys Med Rehabil. 1986;67(5):299–303.PubMed

Perini GI, Menegazzo E, Ermani M, Zara M, Gemma A, Ferruzza E, et al. Cognitive impairment and (CTG)n expansion in myotonic dystrophy patients. Biol Psychiatry. 1999;46(3):425–31.CrossRef

Mathieu J, Allard P, Potvin L, Prevost C, Begin P. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology. 1999;52(8):1658–62. https://doi.org/10.1212/wnl.52.8.1658.CrossRefPubMed

Groh WJ, Groh MR, Saha C, Kincaid JC, Simmons Z, Ciafaloni E, et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med. 2008;358(25):2688–97. https://doi.org/10.1056/NEJMoa062800.CrossRefPubMed

Golz L, Ruppert FH, Meier U, Lemcke J. Outcome of modern shunt therapy in patients with idiopathic normal pressure hydrocephalus 6 years postoperatively. J Neurosurg. 2014;121(4):771–5. https://doi.org/10.3171/2014.6.JNS131211.CrossRefPubMed

10.

Andren K, Wikkelso C, Tisell M, Hellstrom P. Natural course of idiopathic normal pressure hydrocephalus. J Neurol Neurosurg Psychiatry. 2014;85(7):806–10. https://doi.org/10.1136/jnnp-2013-306117.CrossRefPubMed

11.

Hakim S, Adams RD. The special clinical problem of symptomatic hydrocephalus with normal cerebrospinal fluid pressure. Observations on cerebrospinal fluid hydrodynamics. J Neurol Sci. 1965;2(4):307–27.CrossRef

12.

Jaraj D, Rabiei K, Marlow T, Jensen C, Skoog I, Wikkelso C. Prevalence of idiopathic normal-pressure hydrocephalus. Neurology. 2014;82(16):1449–54. https://doi.org/10.1212/WNL.0000000000000342.CrossRefPubMedPubMedCentral

13.

Relkin N, Marmarou A, Klinge P, Bergsneider M, Black PM. Diagnosing idiopathic normal-pressure hydrocephalus. Neurosurgery. 2005;57(3 Suppl):S4–16; discussion ii-v. https://doi.org/10.1227/01.neu.0000168185.29659.c5.CrossRefPubMed

14.

Christensen PB. Normal pressure hydrocephalus in myotonic dystrophy. Eur Neurol. 1988;28(5):285–7. https://doi.org/10.1159/000116285.CrossRefPubMed

15.

Riggs JE, Rubenstein MN, Gutmann L. Myotonic dystrophy and normal-pressure hydrocephalus. Neurology. 1985;35(10):1535.CrossRef

16.

Delavallee M, Raftopoulos C. Normal pressure hydrocephalus in a patient with myotonic dystrophy: case report with a 10-year follow-up. Neurosurgery. 2006;58(4):E796; discussion E. https://doi.org/10.1227/01.NEU.0000204879.83077.C9.CrossRefPubMed

17.

Graff-Radford NR. Normal pressure hydrocephalus. Neurol Clin. 2007;25(3):809–32, vii-viii. https://doi.org/10.1016/j.ncl.2007.03.004.CrossRefPubMed

18.

Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. J Neurol Neurosurg Psychiatry. 2010;81(4):358–67. https://doi.org/10.1136/jnnp.2008.158261.CrossRefPubMed

19.

Okkersen K, Monckton DG, Le N, Tuladhar AM, Raaphorst J, van Engelen BGM. Brain imaging in myotonic dystrophy type 1 a systematic review. Neurology. 2017;89(9):960–9. https://doi.org/10.1212/Wnl.0000000000004300.CrossRefPubMed

20.

Meola G, Sansone V. Cerebral involvement in myotonic dystrophies. Muscle Nerve. 2007;36(3):294–306. https://doi.org/10.1002/mus.20800.CrossRefPubMed

21.

Modoni A, Silvestri G, Pomponi MG, Mangiola F, Tonali PA, Marra C. Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. Arch Neurol. 2004;61(12):1943–7. https://doi.org/10.1001/archneur.61.12.1943.CrossRefPubMed

22.

Sansone V, Gandossini S, Cotelli M, Calabria M, Zanetti O, Meola G. Cognitive impairment in adult myotonic dystrophies: a longitudinal study. Neurol Sci. 2007;28(1):9–15. https://doi.org/10.1007/s10072-007-0742-z.CrossRefPubMed

23.

Winblad S, Lindberg C, Hansen S. Cognitive deficits and CTG repeat expansion size in classical myotonic dystrophy type 1 (DM1). Behav Brain Funct. 2006;2:16. https://doi.org/10.1186/1744-9081-2-16.CrossRefPubMedPubMedCentral

24.

Baldanzi S, Cecchi P, Fabbri S, Pesaresi I, Simoncini C, Angelini C, et al. Relationship between neuropsychological impairment and grey and white matter changes in adult-onset myotonic dystrophy type 1. NeuroImage Clin. 2016;12:190–7. https://doi.org/10.1016/j.nicl.2016.06.011.CrossRefPubMedPubMedCentral

25.

Callus E, Bertoldo EG, Beretta M, Boveri S, Cardani R, Fossati B, et al. Neuropsychological and psychological functioning aspects in Myotonic dystrophy type 1 patients in Italy. Front Neurol. 2018;9:751. https://doi.org/10.3389/fneur.2018.00751.CrossRefPubMedPubMedCentral

26.

Gagnon C, Meola G, Hébert LJ, Puymirat J, Laberge L, Leone M. Report of the first outcome measures in Myotonic dystrophy type 1 (OMMYD-1) international workshop: Clearwater, Florida, November 30, 2011. Neuromuscul Disord. 2013;23(12):1056–68. https://doi.org/10.1016/j.nmd.2013.07.004.CrossRefPubMed

27.

Rubinsztein JS, Rubinsztein DC, Goodburn S, Holland AJ. Apathy and hypersomnia are common features of myotonic dystrophy. J Neurol Neurosurg Psychiatry. 1998;64(4):510–5.CrossRef

28.

Peric S, Sreckov M, Basta I, Lavrnic D, Vujnic M, Marjanovic I, et al. Dependent and paranoid personality patterns in myotonic dystrophy type 1. Acta Neurol Scand. 2014;129(4):219–25. https://doi.org/10.1111/ane.12173.CrossRefPubMed

29.

Baldanzi S, Bevilacqua F, Lorio R, Volpi L, Simoncini C, Petrucci A, et al. Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study. Orphanet J Rare Dis. 2016;11:34. https://doi.org/10.1186/s13023-016-0417-z.CrossRefPubMedPubMedCentral

30.

Bertrand JA, Jean S, Laberge L, Gagnon C, Mathieu J, Gagnon JF, et al. Psychological characteristics of patients with myotonic dystrophy type 1. Acta Neurol Scand. 2015;132(1):49–58. https://doi.org/10.1111/ane.12356.CrossRefPubMed

31.

Gallais B, Gagnon C, Mathieu J, Richer L. Cognitive decline over time in adults with myotonic dystrophy type 1: a 9-year longitudinal study. Neuromuscul Disord. 2017;27(1):61–72.CrossRef

32.

Winblad S, Samuelsson L, Lindberg C, Meola G. Cognition in myotonic dystrophy type 1: a 5-year follow-up study. Eur J Neurol. 2016;23(9):1471–6. https://doi.org/10.1111/ene.13062.CrossRefPubMed

33.

Winblad S, Jensen C, Månsson JE, Samuelsson L, Lindberg C. Depression in Myotonic dystrophy type 1: clinical and neuronal correlates. Behav Brain Funct. 2010;6:25. https://doi.org/10.1186/1744-9081-6-25.CrossRefPubMedPubMedCentral

34.

Sistiaga A, Urreta I, Jodar M, Cobo AM, Emparanza J, Otaegui D, et al. Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. Psychol Med. 2010;40(3):487–95. https://doi.org/10.1017/s0033291709990602.CrossRefPubMed

35.

Refsum S, Lonnum A, Sjaastad O, Engeset A. Dystrophia myotonica. Repeated pneumoencephalographic studies in ten patients. Neurology. 1967;17(4):345–8.CrossRef

36.

Glantz RH, Wright RB, Huckman MS, Garron DC, Siegel IM. Central nervous system magnetic resonance imaging findings in myotonic dystrophy. Arch Neurol. 1988;45(1):36–7.CrossRef

37.

Di Costanzo A, Di Salle F, Santoro L, Bonavita V, Tedeschi G. Brain MRI features of congenital- and adult-form myotonic dystrophy type 1: case-control study. Neuromusc Disord. 2002;12(5):476–83.CrossRef

38.

Antonini G, Mainero C, Romano A, Giubilei F, Ceschin V, Gragnani F, et al. Cerebral atrophy in myotonic dystrophy: a voxel based morphometric study. J Neurol Neurosurg Psychiatry. 2004;75(11):1611–3.CrossRef

39.

Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C, et al. The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. Brain. 2011;134(Pt 12):3530–46. https://doi.org/10.1093/brain/awr299.CrossRefPubMed

40.

Caso F, Agosta F, Peric S, Rakočević-Stojanović V, Copetti M, Kostic VS, et al. Cognitive impairment in myotonic dystrophy type 1 is associated with white matter damage. PloS one. 2014;9(8):e104697. https://doi.org/10.1371/journal.pone.0104697.CrossRefPubMedPubMedCentral

41.

Schneider-Gold C, Bellenberg B, Prehn C, Krogias C, Schneider R, Klein J, et al. Cortical and Subcortical Grey and White Matter Atrophy in Myotonic Dystrophies Type 1 and 2 Is Associated with Cognitive Impairment, Depression and Daytime Sleepiness. PloS one. 2015;10(6):e0130352. https://doi.org/10.1371/journal.pone.0130352.CrossRefPubMedPubMedCentral

42.

Serra L, Petrucci A, Spanò B, Torso M, Olivito G, Lispi L, et al. How genetics affects the brain to produce higher-level dysfunctions in myotonic dystrophy type 1. Funct Neurol. 2015;30(1):21–31.PubMedPubMedCentral

43.

Weber YG, Roebling R, Kassubek J, Hoffmann S, Rosenbohm A, Wolf M, et al. Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. Neurology. 2010;74(14):1108–17. https://doi.org/10.1212/WNL.0b013e3181d8c35f.CrossRefPubMed

44.

Wozniak JR, Mueller BA, Bell CJ, Muetzel RL, Lim KO, Day JW. Diffusion tensor imaging reveals widespread white matter abnormalities in children and adolescents with myotonic dystrophy type 1. J Neurol. 2013;260(4):1122–31. https://doi.org/10.1007/s00415-012-6771-4.CrossRefPubMed

45.

Wozniak JR, Mueller BA, Lim KO, Hemmy LS, Day JW. Tractography reveals diffuse white matter abnormalities in Myotonic dystrophy type 1. J Neurol Sci. 2014;341(1–2):73–8. https://doi.org/10.1016/j.jns.2014.04.005.CrossRefPubMedPubMedCentral

46.

Wozniak JR, Mueller BA, Ward EE, Lim KO, Day JW. White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: a diffusion tensor imaging study. Neuromuscul Disord. 2011;21(2):89–96. https://doi.org/10.1016/j.nmd.2010.11.013.CrossRefPubMed

47.

Zanigni S, Evangelisti S, Giannoccaro MP, Oppi F, Poda R, Giorgio A, et al. Relationship of white and gray matter abnormalities to clinical and genetic features in myotonic dystrophy type 1. NeuroImage Clin. 2016;11:678–85.CrossRef

48.

Raftopoulos C, Chaskis C, Delecluse F, Cantraine F, Bidaut L, Brotchi J. Morphological quantitative analysis of intracranial pressure waves in normal pressure hydrocephalus. Neurol Res. 1992;14(5):389–96.CrossRef

49.

Raftopoulos C, Deleval J, Chaskis C, Leonard A, Cantraine F, Desmyttere F, et al. Cognitive recovery in idiopathic normal pressure hydrocephalus: a prospective study. Neurosurgery. 1994;35(3):397–404 discussion −5.CrossRef

50.

Duinkerke A, Williams MA, Rigamonti D, Hillis AE. Cognitive recovery in idiopathic normal pressure hydrocephalus after shunt. Cogn Behav Neurol. 2004;17(3):179–84.CrossRef

51.

Murakami Y, Matsumoto Y, Hoshi K, Ito H, Fuwa TJ, Yamaguchi Y, et al. Rapid increase of 'brain-type' transferrin in cerebrospinal fluid after shunt surgery for idiopathic normal pressure hydrocephalus: a prognosis marker for cognitive recovery. J Biochem. 2018;164(3):205–13. https://doi.org/10.1093/jb/mvy043.CrossRefPubMed

52.

de Die-Smulders CE, Howeler CJ, Thijs C, Mirandolle JF, Anten HB, Smeets HJ, et al. Age and causes of death in adult-onset myotonic dystrophy. Brain. 1998;121(Pt 8):1557–63.CrossRef

Title: Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review
Authors: Junyang Wang
Ming Liu
Wenjie Shang
Zhongqin Chen
Guoping Peng
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Myotonic Dystrophy
Muscular Dystrophy
Muscular Dystrophy
Hydrocephalus
Hydrocephalus
Hydrocephalus
Myotonic Dystrophy
Urinary Incontinence
Urinary Incontinence
Published in: BMC Neurology / Issue 1/2020
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-020-01636-0

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Myotonic dystrophy type 1 accompanied with normal pressure hydrocephalus: a case report and literature review

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

Please log in to get access to this content

Other articles of this Issue 1/2020

Variants in clopidogrel-relevant genes and early neurological deterioration in ischemic stroke patients receiving clopidogrel

Association between cytomegalovirus end-organ diseases and moderate-to-severe dementia: a population-based cohort study

Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

Prediction of deep vein thrombosis by ultrasonography and D-dimer in Asian patients with ischemic stroke

Rasch analysis of the living with chronic illness scale in Parkinson’s disease

Extracranial metastases in secondary glioblastoma multiforme: a case report