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CASE REPORT
Year : 2012  |  Volume : 15  |  Issue : 1  |  Page : 44-47
 

Familial Guillain-Barré syndrome: First Indian report


Department of Neurology, KLE University's Jawaharlal Nehru Medical College and KLES Dr. Prabhakar Kore Hospital and MRC, Nehrunagar, Belgaum, India

Date of Submission31-Mar-2011
Date of Decision10-Apr-2011
Date of Acceptance16-May-2011
Date of Web Publication29-Feb-2012

Correspondence Address:
Karkal Ravishankar Naik
Department of Neurology, KLE University's Jawaharlal Nehru Medical College and KLES Dr. Prabhakar Kore Hospital and MRC, Nehrunagar, Belgaum - 590 010
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.93278

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   Abstract 

Guillain-Barré syndrome (GBS) is the commonest acute immune-mediated peripheral neuropathy. Specific human leukocyte antigen types have been found in patients with axonal and demyelinating subtypes of GBS suggesting genetic susceptibility in the generation of GBS. However, familial occurrence of GBS is rare and 42 patients from 20 families have been reported. Majority of them are from European countries and two families have been documented from Asian countries, while none have been reported from India. Electrophysiological characterization in familial GBS has been limited. We report the clinical and detailed electrophysiological findings in two affected brothers with familial GBS from India who had GBS five years apart. Both of them had mixed axonal and demyelinating features in nerve conductions and had complete clinical recovery. Our report documents the first Indian familial occurrence of GBS. Detailed genetic and epidemiological studies are required to find the true prevalence of familial GBS.


Keywords: Familial Guillain-Barré syndrome, motor conduction block, nerve conduction studies


How to cite this article:
Naik KR, Saroja AO, Patil BP. Familial Guillain-Barré syndrome: First Indian report. Ann Indian Acad Neurol 2012;15:44-7

How to cite this URL:
Naik KR, Saroja AO, Patil BP. Familial Guillain-Barré syndrome: First Indian report. Ann Indian Acad Neurol [serial online] 2012 [cited 2019 Nov 14];15:44-7. Available from: http://www.annalsofian.org/text.asp?2012/15/1/44/93278



   Introduction Top


Guillain-Barré syndrome (GBS) is the commonest immune-mediated acute neuropathy with several causative factors including Campylobacter jejuni and viral infections. [1] Studies have demonstrated presence of higher incidence of specific human leukocyte antigen (HLA) antigens in GBS suggesting genetic predisposition contributing to the immunopathogenesis and manifestations. [2] Despite large number of patients with GBS, familial occurrence is rare. Following the first report in 1965, few families with familial GBS have been reported. [3],[4],[5],[6],[7],[8],[9],[10],[11]

Among the 150 GBS patients seen in the neurological services of the hospital over last ten years, two were from a single family. Their clinical and electrophysiological data are presented below.


   Case Reports Top


Patient 1

A 20-year-old man, sixth sib of nonconsanguineous parentage, was admitted in August 2005 with distal onset quadriparesis of four days without respiratory or autonomic dysfunction. This was preceded by fever and sore throat one week earlier. Cranial nerves were normal. Muscle power was normal in proximal upper limbs, 4/5 in distal upper limbs and proximal lower limbs; 3/5 at ankle and toes. Touch and pinprick sensations were reduced in hands and feet with sluggish muscle stretch reflexes. Blood counts and biochemistry were normal. Nerve conduction studies performed on the second hospital day revealed conduction blocks in both ulnar nerves with moderate reduction of distal motor amplitudes [Table 1]. F-waves were delayed in right median and right common pereonal nerves, absent in both ulnar and left posterior tibial nerves. Bilateral facial paralysis with worsening of limb weakness occurred by fifth day of admission, making him bedbound. Cerebrospinal fluid (CSF) was acellular with 197 mg/dl protein. He was given intravenous immunoglobulin over one week. He had static deficits for two weeks before gradual improvement to normal power over the next six months.
Table 1: The nerve conduction findings in the two patients

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Patient 2

Eldest brother of the first patient was admitted in January 2010 at the age of 34 years with quadriparesis that began two weeks earlier and progressed over ten days. There was no impairment of sphincter, autonomic, or respiratory functions. He had no antecedent infections or inoculations. His mental functions and cranial nerves were normal. Power in shoulder, elbow, hip, and knees were 3/5, while the fingers and toes were severely weak. Sensations were normal with diffuse areflexia. CSF revealed 10 lymphocytes/mm 3 and 111 mg/dl protein. Nerve conduction studies revealed reduced motor amplitudes with dispersion and reduced velocities [Figure 1] and [Figure 2], [Table 1]. F-waves were absent and the R-R variability was normal. He had progressive improvement in the muscle power and started walking six days after admission. He was discharged one week later when the power had increased by one grade and had recovered completely at follow-up five months after discharge.
Figure 1: The motor nerve conductions in right upper limb revealing reduced amplitudes in median and ulnar nerves with temporal dispersion in ulnar nerve. Right median nerve was stimulated at wrist (a), elbow (b), and mid arm (c); ulnar nerve was stimulated at wrist (d), below elbow (e), and mid arm (f). Sensitivity 1 mV/d for median and 0.5mV/d for ulnar nerves

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Figure 2: Motor nerve conductions in right lower limb revealing increased distal latencies, reduced amplitudes with temporal dispersion, and partial conduction block. Common peroneal nerve was stimulated at ankle (a), below fibular neck (b), and popliteal fossa (c); posterior tibial nerve was stimulated at ankle (d) and popliteal fossa (e)

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The parents and unaffected siblings had no neuromuscular symptoms and had normal neurological examination. Nerve conduction studies in the unaffected siblings were normal.


   Discussion Top


Familial occurrence of GBS is rare with few publications over the last 45 years since the first publication in 1965. [3] Over these years, 42 patients of GBS belonging to 20 families have been reported. [3],[4],[5],[6],[7],[8],[9],[10],[11] Some of these patients would not fulfill the present diagnostic criteria for GBS. [12] In the majority of the families published, two members from each family were affected, [3],[4],[6],[7],[8],[9],[10],[11] while two families had three affected patients each. [5],[10]

Among the familial GBS patients published till date, no gender predilection was seen (19 female and 23 male) with wide variation in age ranging from infancy to 76 years. The affected family members have been quite varied with siblings, parent-offspring, grandparent-grandchild, uncle-nephew/niece, and cousins being affected in the individual families [3],[4],[5],[6],[7],[8],[9],[10],[11] In the 25 patients among 12 families from Netherlands, a tendency for younger age in the subsequently affected family member was noted, [10] with similar observation in some studies. [3,4] However, in our two patients, the older sibling was affected five years after the younger one.

Antecedent events in these familial GBS patients have been different in the various reports including the Dutch report. Respiratory tract infections were the commonest (11 patients), followed by flu (six patients), diarrhea (six patients), and C. jejuni in six patients. Other uncommon prodromes noted were cytomegalovirus infection, headache, nettle rash, and radicular pains, while three had no antecedent events [3],[4],[5],[6],[7],[8],[9],[10],[11] One of our patients had upper respiratory infection, while the second patient had no preceding illness. Both patients had clinical features consistent with GBS that was supported by the nerve conduction abnormalities and albuminocytological dissociation in CSF. [12]

Published electrophysiological data in the familial GBS are limited and are suggestive of demyelinating neuropathy. [6],[7] In one family, daughter had acute motor axonal neuropathy (AMAN) following Campylobacter infection, while the father had acute inflammatory demyelinating polyneuropathy (AIDP). [11] However, in other reports, details were not available to categorize to electrophysiological subtypes of GBS. Our two patients had combination of features of demyelination and axonopathy in motor nerve conductions, with more profound reduction of amplitudes in the second patient. The amplitudes of sensory nerve action potentials (SNAP) in upper limb were relatively reduced in comparison with the lower limbs in both patients. Reductions of SNAP amplitudes in median and ulnar nerves are encountered more frequently than in sural nerves in patients with AIDP, while the sensory nerve conduction abnormalities are uncommon in AMAN. [13]

Increased incidence of GBS in siblings over the expected frequency in the population was noted in the study from Netherlands. [10] Genetic evaluation has been done in few families with familial GBS. HLA typing in father and son revealed similarity in A2, A29, B5, B44, Bw4, Dr7, and Drw53 antigens. [6] Mother and son shared HLA DR2 in another family. [9] In contrast, HLA association was not seen in two Israeli patients, wherein father had chronic inflammatory demyelinating polyneuropathy (CIDP) and daughter had AIDP. [7] A subsequent publication from this family reported another daughter developing CIDP and all these three patients had chromosomal deletion at 17p12 locus which is involved in hereditary neuropathy with liability for pressure palsies. [14] A recent report from Srilanka documented an affected father with AIDP and daughter with AMAN sharing HLA types DR12, DQ6, and DQ7. [11]

A study from China revealed different HLA epitopes involved in increased susceptibility and protection from AIDP. Similar association was not seen for AMAN suggesting a different pathogenic mechanism. [2] Pandey and Vedeler demonstrated increased frequency of KM3 homozygotes in patients with GBS, suggesting the role of genetic markers of the constant region of kappa chain in the pathogenesis of GBS. [15] These findings probably indicate why only few of the subjects with the antecedent infections from C. jejuni develop GBS. The genetic predisposition may increase the susceptibility of the patient exposed to the infections known to precipitate GBS. However, further detailed genetic studies are required in patients with familial GBS to assess contribution of the genetic factors.

Literature survey did not reveal an earlier report of familial GBS from India and we believe that this is the first report from India. Detailed genetic studies in our patients and the unaffected siblings probably could have provided information on the genetic susceptibility. Epidemiological and genetic studies may ascertain the true prevalence of familial GBS.

 
   References Top

1.Hughes RA, Cornblath DR. Guillain-Barré syndrome. Lancet 2005;366:1653-66.  Back to cited text no. 1
    
2.Magira EE, Papaioakim M, Nachamkin I, Asbury AK, Li CY, Ho TW, et al. Differential distribution of HLA-DQ beta/DR beta epitopes in the two forms of Guillain-Barrè syndrome, acute motor axonal neuropathy and acute inflammatory demyelinating polyneuropathy (AIDP): Identification DQ beta epitopes associated with susceptibility to and protection from AIDP. J Immunol 2003;170:3074-80.   Back to cited text no. 2
    
3.Saunders M, Rake M. Familial Guillain-Barré syndrome. Lancet 1965;2:1106-7.  Back to cited text no. 3
    
4.MacGregor GA. Familial Guillain-Barré syndrome. Lancet 1965;2:1296.  Back to cited text no. 4
    
5.Bar-Joseph G, Etzioni A, Hemli J, Gershoni-Baruch R. Guillain-Barré syndrome in three siblings less than 2 years old. Arch Dis Child 1991;66:1078-9.  Back to cited text no. 5
    
6.Davidson DL, O'Sullivan AF, Morely KD. HLA antigens in familial Guillain-Barré syndrome. J Neurol Neurosurg Psychiatry 1992;55:508-9.  Back to cited text no. 6
    
7.Korn-Lubetzki I, Steiner I, Brenner T, Brautbar C, Argov Z. Familial inflammatory demyelinating polyneuropathy: A Guillain Barré syndrome variant without autoimmune predilection. J Neurol Neurosurg Psychiatry 1994;57:1008-9.  Back to cited text no. 7
    
8.Yuki N, Tsujino Y. Familial Guillain-Barré syndrome subsequent to Campylobacter jejuni enteritis. J Peadiatr 1995;126:162.  Back to cited text no. 8
    
9.Wilmshurst JM, Pohl KR, Vaughan RW, Hughes RA. Familial Guillain-Barre syndrome. Eur J Neurol 1999;6:499-503.   Back to cited text no. 9
    
10.Geleijns K, Brouwer BA, Jacobs BC, Houwing-Duistermaat JJ, van Duijn CM, van Doorn PA. The occurrence of Guillain-Barre syndrome within families. Neurology 2004;63:1747-50.  Back to cited text no. 10
    
11.Senanayake MP, Wanigasinghe J, Gamaethige N, Dissanayake P. A case of possible familial Guillain-Barré syndrome. Ceylon Med J 2010;55:135-6.   Back to cited text no. 11
    
12.Asbury AK, Cornblath DR. Assessment of current diagnostic criteria for Guillain-Barré syndrome. Ann Neurol 1990;27 Suppl:S21-4.   Back to cited text no. 12
    
13.Kuwabara S, Ogawara K, Misawa S, Mizobuchi K, Sung JY, Kitano Y, et al. Sensory nerve conduction in demyelinating and axonal Guillain-Barré syndromes. Eur Neurol 2004;51:196-8.  Back to cited text no. 13
    
14.Korn-Lubetzki I, Argov Z, Raas-Rothschild A, Wirguin I, Steiner I. Family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. Am J Med Genet 2002;113:275-8.   Back to cited text no. 14
    
15.Pandey JP, Vedeler CA. Immunoglobulin KM genes in Guillain-Barre syndrome. Neurogenetics 2003;4:147-9.  Back to cited text no. 15
    


    Figures

  [Figure 1], [Figure 2]
 
 
    Tables

  [Table 1]


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