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|Year : 2017 | Volume
| Issue : 4 | Page : 804-807
Familial Guillain-Barré syndrome: A case report with literature review
Binod Sarmah, Narayan Upadhyaya
Department of Neurology, Assam Medical College and Hospital, Dibrugarh, Assam, India
|Date of Web Publication||5-Jul-2017|
Department of Neurology, Assam Medical College and Hospital, Dibrugarh - 786 002, Assam
Source of Support: None, Conflict of Interest: None
Guillain–Barré syndrome (GBS) is the most common acute immune-mediated polyneuropathy characterized by symmetrical weakness of limbs and hyporeflexia or areflexia. Familial occurrence of GBS is rare, and only 42 patients from 20 families have been reported so far. Majority of them are from European countries. Familial occurrences do suggest the involvement of some as yet unidentified genetic susceptibility factors. We report the clinical and detailed electrophysiological findings of three affected brothers from Arunachal Pradesh who presented with possible familial GBS.
Keywords: Familial Guillain–Barré syndrome, polyneuropathy, nerve conduction studies
|How to cite this article:|
Sarmah B, Upadhyaya N. Familial Guillain-Barré syndrome: A case report with literature review. Neurol India 2017;65:804-7
The familial occurrence of Guillain–Barré syndrome (GBS) is rare. This unique study presents three male siblings of a family who developed GBS at almost similar age, thus, indicating their genetic predisposition to develop the disease.
Guillain–Barré syndrome (GBS) is the most common immune-mediated acute polyneuropathy with several causative factors including Campylobacter jejuni and viral infections. Specific human leukocyte antigen types have been found in patients with GBS suggesting their genetic susceptibility to the development of GBS. Despite the presence of a large number of patients with GBS, familial occurrence is rare and the majority of cases have been reported from European countries, while only two families have been documented from Asian countries. Here, we report a family from Arunachal Pradesh that was composed of three brothers suffering from GBS. In this family, the father had two wives and there were seven siblings, four of them male from the first wife, and two male and one female from the second wife.
| » Case Reports|| |
A 16-year old boy, the fourth sibling of the first wife, presented in the Department of Neurology in November 2014 with progressive weakness and paresthesia in both upper and lower limbs for 12 days, with an antecedent history of flu-like symptoms 2 weeks prior to the onset of his weakness. The weakness was symmetrical in onset and proximal more than distal. The patient had difficulty in respiration at the time of admission. His bladder and bowel functions were normal. On examination, there was bilateral lower motor neuron peripheral facial nerve palsy, absent deep tendon reflexes, with flexor plantar response on both the sides. Muscle power was diminished in both upper and lower limbs, but more in the lower limbs (1/5 at hip and knee, 2/5 at ankle, 2/5 at shoulder and elbow, 2/5 at wrist and fingers), and the patient was confined to bed. There was a mild decrease in the vibration and fine touch sensation distal to the ankle joints. As his single breath count was 10, he was put on non-invasive mode of ventilation. Nerve conduction studies revealed a reduced amplitude and velocity in both motor and sensory nerves [Table 1]. Cerebrospinal fluid (CSF) analysis revealed 6 lymphocytes/mm 3, 120 mg/dL protein, and 73 mg/dL glucose. Three samples of urine for porphobilinogen were negative. The patient was treated with intravenous immunoglobulin (IVIg) for 5 days and had a static course for 1 week; following this, there was gradual improvement in his neurological status. He was removed from noninvasive ventilation on the 7th day of admission, and at the time of discharge on the 20th day of admission, power in his limbs were 3/5 at hip, knee, and ankle, 4/5 at shoulder and elbow, and 3/5 at wrist and fingers. The patient was re-examined in November 2015 where we found normal neurological findings; a repeat nerve conduction study revealed complete recovery [Table 2].
|Table 1: Motor and sensory nerve conduction study of the affected siblings. Amplitude of compound muscle action potentials and sensory nerve action potentials were reduced in all the cases. Motor and sensory conduction velocities were also decreased in all the three cases|
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|Table 2: Repeat nerve conduction study of the affected siblings at follow up. Study showing significant improvement in the conduction velocities and amplitude of compound muscle action potentials and sensory nerve action potentials|
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Ten months later, one of his elder brothers from the second mother, the sixth sibling, developed similar symptoms and was admitted in the Neurology Department. He was 18-year old and presented with quadriparesis for 10 days, and had experienced an episode of flu-like symptoms 10 days prior to his weakness. Weakness was symmetrical in onset and proximal more than distal. His bladder and bowel functions were normal. On examination, there was bilateral peripheral facial nerve palsy, his deep tendon reflexes were absent, plantar reflexes were flexor on both sides, while muscle power was diminished in both upper and lower limbs (3/5 at hip and knee, 4/5 at ankle, and 4/5 at shoulder, elbow, and wrist). The CSF analysis on the same day showed 10 lymphocytes/mm 3, 128 mg/dL protein, and 85 mg/dL glucose. Urine for porphobilinogen was negative. Nerve conduction studies revealed similar findings as that of the first case [Table 1]. He was treated with IVIg without ventilatory support. He started improving from the 10th day of admission and was discharged on the 19th day of admission with significant functional recovery. Re-assessment of the patient at follow-up in November 2015 revealed complete recovery of weakness with reduced ankle jerks bilaterally. His repeat nerve conduction study showed significant improvement in comparison to the previous study done in September 2015 [Table 2].
On eliciting the family history, it was found that one of the other siblings from the first mother who was a 20-year old male, also had a similar history in 2012 and was treated in our hospital. Subsequently, his medical records were retrieved from the medical records department. The patient was admitted with a history of tingling sensation followed by quadriparesis for 14 days with an episode of flu-like symptoms 12 days prior to the onset of his weakness. Weakness was symmetrical in onset. On examination, there was bilateral peripheral facial nerve palsy, absent deep tendon reflexes, and flexor plantar response on both the sides. Weakness was more in the lower limbs than in the upper limbs, and proximal weakness was greater than distal weakness (2/5 at hip and knee, 3/5 at ankle, 4-/5 at shoulder and elbow, and 4/5 at wrist). There was bilateral decreased vibration and fine touch sensation distal to the elbow and knee. CSF analysis was showing 5 lymphocytes/mm 3, 102 mg/dL protein, and 64 mg/dL glucose. Urinary porphobilinogen was negative. Nerve conduction studies revealed similar findings as that of the first and second case [Table 1]. He was treated with IVIg and discharged on the 28th day of his illness. He took 3 months for full recovery of his weakness. He was re-evaluated in November 2015, and was found to have reduced ankle jerks bilaterally with normal muscles power. His repeat nerve conduction study revealed significant improvement compared to that seen in the previous study [Table 2].
| » Discussion|| |
GBS is an immune-mediated, common cause of acute flaccid paralysis, characterized by symmetrical weakness of the limbs and hyporeflexia or areflexia, which reaches a maximum severity within 4 weeks. GBS is a rare disease with an incidence rate of 0.4–4 cases in 100,000 subjects in a year. It typically occurs after an infectious disease in which the immune response generates antibodies that cross-react with gangliosides at nerve membranes. This autoimmune response results in nerve damage or functional blockade of nerve conduction. Approximately 70% of patients report symptoms of respiratory or gastrointestinal tract infection before the onset of GBS. In approximately half of the patients with GBS, a specific type of preceding infection can be identified, and C.jejuni is responsible for at least one-third of these infections., The diagnosis of GBS is mostly clinical, which is supported by CSF and electrodiagnostic criteria. Familial occurrence of GBS is rare with only a few publications being published over the last 45 years since the first publication in 1965. We report the case report of GBS in three siblings of a family. All of the three patients fulfilled the diagnostic criteria of GBS. In the majority of the cases published so far, only two members from each family were affected, while two families had three affected patients each, respectively.,,,,,,,, Antecedent infections in familial GBS may be different in the same affected family. A study from Netherlands reported a tendency for a younger age of onset of the disease in subsequent generations of the affected family in case of familial GBS. In India, a report of a probable case of familial GBS was described by Barzegar et al., in 2012. Our cases were unique in that all of the three siblings belonged to the single generation, presented in their twenties and had the same antecedent history of flu-like symptoms prior to weakness. So far, the exact genetic basis of familial GBS has not been elucidated. Human leucocytic antigen (HLA) typing is an area of discussion in GBS and is being investigated in several studies that suggest various associations. There are also studies that could find no correlation between HLA and GBS subgroups.,,, However, Winer et al., found an increased incidence of HLA-DR2 in GBS patients with most profound muscle weakness, while Grodezky et al., reported an increase in HLA-DR3 in Mexican cases. A recent report from Sri-Lanka documented identical HLA types DR12, DQ6, and DQ7 in a father and his daughter having GBS. Rees et al., and Monas et al., identified increased levels of HLA-DQB1and DRB1 in patients with GBS, suggesting a genetic predisposition to developing GBS in these patients.,
| » Conclusion|| |
The familial occurrence of GBS is rare with only a few articles having been published. Literature survey did not reveal many reports of familial GBS from India. The uniqueness of our study lies in the fact that three male siblings of a family presented with GBS at almost similar age of onset. Further epidemiological and genetic studies on larger population groups will ascertain the true prevalence and exact genetic basis of familial GBS.
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Conflicts of interest
There are no conflicts of interest.
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[Table 1], [Table 2]
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