Neurology India
menu-bar5 Open access journal indexed with Index Medicus
  Users online: 477  
 Home | Login 
About Editorial board Articlesmenu-bullet NSI Publicationsmenu-bullet Search Instructions Online Submission Subscribe Videos Etcetera Contact
  Navigate Here 
 Resource Links
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (1,440 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  

  In this Article
   Article Figures

 Article Access Statistics
    PDF Downloaded46    
    Comments [Add]    

Recommend this journal


Table of Contents    
Year : 2014  |  Volume : 62  |  Issue : 1  |  Page : 68-70

Polymyositis with myotonia in a patient with common variable immunodefi ciency

1 Department of Neurology, Beijing An Zhen Hospital, Capital Medical University, Beijing, China
2 Department of Neurology, The First Teaching Hospital, Peking University, Beijing, China

Date of Submission04-Nov-2013
Date of Decision01-Dec-2013
Date of Acceptance29-Jan-2014
Date of Web Publication7-Mar-2014

Correspondence Address:
Yun Yuan
Department of Neurology, The First Teaching Hospital, Peking University, Beijing
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.128315

Rights and Permissions

How to cite this article:
Li Y, Zhang W, Feng L Q, Yuan Y. Polymyositis with myotonia in a patient with common variable immunodefi ciency. Neurol India 2014;62:68-70

How to cite this URL:
Li Y, Zhang W, Feng L Q, Yuan Y. Polymyositis with myotonia in a patient with common variable immunodefi ciency. Neurol India [serial online] 2014 [cited 2020 Jul 8];62:68-70. Available from:


Common variable immune deficiency (CVID) is a primary immunodeficiency disorder characterized by hypogammaglobulinemia, recurrent bacterial infections and a high prevalence of autoimmune diseases, as well as neoplasia [1],[2] and usually present with symptoms in the second to fourth decade of life. [3] CVID is caused by intrinsic B or T cell defects, [1] but the exact pathogenesis of this condition is poorly understood. Until date only one case of CIVD with inclusion body myositis, [2],[3] and two cases with polymyositis (PM) [4] have been reported, hence this case report.

A 33-year-old male patient presented with 10 years history of recurrent respiratory infection and fatigue; he was treated with antibiotics intermittently over this time period. Two years ago, he experienced general muscle weakness, an enlarged neck and stiffness of his hands, neck and thighs. Physical examination revealed short stature, hypertrophy of the sternocleidomastoid muscle [Figure 1]a, mild proximal muscle weakness and muscle wasting, including the neck flexor. Myotonia was induced in both hands and anterior tibial muscles with percussion. Laboratory testing revealed an erythrocyte sedimentation rate of 41 mm/h and C-reactive protein was 40.77 mg/L. Serum immunoglobulin G level was 0.07 g/L (7-16 g/L), immunoglobulin A 0.25 g/L (0.7-4.0 g/L) and immunoglobulin M 0.18 g/L (0.4-2.3 g/L). Serum creatine kinases (CK) (CK 1094 IU/L and CK-MB 110 U/L) was elevated. Thyroid function showed a mild decrease in T3 level. Rheumatoid factor was normal. The patient was tested for antinuclear, antineutrophil cytoplasm, anti-SCL-70, anti-double stranded deoxyribonucleic acid, anti-smooth muscle, anti-mitochondria, anti-Smith, anti-ribonucleoprotein, anti-Sjögren syndrome A and anti-Sjögren syndrome B, all of which were negative. The patient was also tested for myositis antibodies (anti-Mi-2u, PM-Scl100, PM-Scl175, Jo-1, signal recognition particle, PL-7, PL-12, EJ, OJ and Ro-52 antibodies), which were also negative. Pulmonary function was moderately decreased with respect to vital capacity, total lung capacity and diffusing capacity. Left lung consolidation was found on chest computed tomography. Lung biopsy revealed proliferation of connective tissue with inflammatory cell infiltration. Ultrasound of the neck showed hypertrophy of the sternocleidomastoids [Figure 1]b and nerve conduction velocities were normal. Electromyography showed myopathic potentials with abundant myotonic discharges in the left extensor digitorum communis, anterior tibial and sternocleidomastoid muscles. Muscle biopsy revealed inflammatory cell infiltration with muscle fiber necrosis [Figure 2]. Immunohistochemistry staining revealed infiltration of massive macrophages, T lymphocytes and a few B lymphocytes. Gene sequencing for DMPK and ZNF9 genes were normal. The diagnosis of CVID was made and secondary hypoimmunoglobulinemia was ruled out. Although myotonic dystrophy can present with myotonia and hypogammaglobulinemia, this was ruled out by the biopsy and gene tests. The patient was treated with antibiotics and eperisone hydrochloride. He was not given intravenous immunoglobulin (IVIG) because of economic reasons. At the last follow-up, he has recurrent cough, but the myotonia improved and muscle weakness did not worsen. Autoimmune dysfunction has been reported in 20-25% of in CVID patients myositis is considered a rare complication of CVID. [1],[4] This patient is unique in the sense that he developed PM, myotonia and muscle hypertrophy during the progressive stages of the disease. This combination of myotonic myopathy in CVID has not been described earlier and should be considered as a differential diagnosis. Proliferation of connective tissue and hypertrophy of muscle fibers are indicative of a chronic process. In their study Prasad et al., have described muscle hypertrophy in a patients with chronic PM, but not myotonia. [5] There was delay in the diagnosis of CVID in this patient in spite multi-organ involvement and recurrent infections which should have given a clue for the diagnosis CVID.
Figure 1: (a) Muscle hypertrophy of both sternocleidomastoids. (b) Ultrasonography of the sternocleidomastoid. Cross section revealed muscle hypertrophy with uniformity echo

Click here to view
Figure 2: Biopsy showed muscle fi ber hypertrophy, atrophy, necrosis, regeneration and infi ltration of infl ammatory cells (H and E)

Click here to view

The mechanisms underlying CVID are poorly understood. [1],[2],[3],[4],[5] However, infiltration of T lymphocytes indicates T lymphocyte dysfunction in CVID associated PM. Severe abnormalities in cytokine secretion, cell adhesion and dendritic cells have also been described in CVID. Currently, IVIG is the most effective treatment for patients with CVID-not only for immunoglobulin replacement, but also for immune regulation.

  References Top

1.Deane S, Selmi C, Naguwa SM, Teuber SS, Gershwin ME. Common variable immunodeficiency: Etiological and treatment issues. Int Arch Allergy Immunol 2009;150:311-24.  Back to cited text no. 1
2.Dalakas MC, Illa I. Common variable immunodeficiency and inclusion body myositis: Adistinct myopathy mediated by natural killer cells. Ann Neurol 1995;37:806-10.  Back to cited text no. 2
3.Gause A, Inderrieden DC, Laas R, Arlt AC, Gross WL. Common variable immunodeficiency (CVID) and inclusion body myositis (IBM). Immunobiology 2000;202:199-203.  Back to cited text no. 3
4.Váncsa A, Szodoray P, Kovács I, Kapitány A, Gergely L, Dankó K. The association of common variable immune deficiency with idiopathic inflammatory myopathies. Joint Bone Spine 2010;77:620-2.  Back to cited text no. 4
5.Prasad K, Behari M, Maheshwari MC. Muscle hypertrophy in chronic polymyositis. J Neurol Neurosurg Psychiatry 1985;48:1309.  Back to cited text no. 5


  [Figure 1], [Figure 2]


Print this article  Email this article
Online since 20th March '04
Published by Wolters Kluwer - Medknow