Guillain–Barré syndrome A rare manifestation of Hansen’s ds disease

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Letters to Editor Guillain–Barré syndrome: A rare manifestation of Hansen’s disease Sir, Guillain–Barré (GB) syndrome was described by the French neurologists Guillain, Barre, and Strohl. It is an acute autoimmune polyradiculopathy that is characterized by progressive symmetrical muscle weakness. [1] The patients develop acute paralysis with areflexia. It is often preceded by infections such as Campylobacter jejuni, Mycoplasma pneumonia, Hemophilus influenza, cytomegalovirus, and Epstein‐Barr virus infections by at least 3 weeks. We report a case of a 45‐year‐old gentleman presenting with leprosy as a rare cause of GB syndrome. The patient presented to the hospital with complaints of weakness affecting all 4 limbs since the last 5 days. The weakness was distal as well as proximal. The patient also turned out to be a case of Hansen’s disease. This was detected approximately 2 months before his presentation to the hospital as a result of ulceration of the foot. He was off treatment because of gastric ulcerations. There was no other significant medical history. The patient presented with normal higher mental functions and was found to have a power of 2 of 5 proximally and 3 of 5 distally. There was generalized areflexia with bilateral flexor plantar response. The sensory loss was restricted to anesthetic patches on the back and few patches on the trunk. The patient had palpable nerves—bilateral radial and ulnar nerves. The foot lesions had healed in the left foot; however, they persisted in the right foot. The patient was evaluated for nerve conduction velocity (NCV), which was suggestive of GB syndrome. He was taken up for sural nerve biopsy which showed features that were suggestive of Hansen’s disease. The slides were reviewed at 2 teaching institutes and yielded consistent results. Other investigations and possible causes of neuropathy (malarial parasite, hepatitis B surface antigen, human immunodeficiency virus (HIV), rheumatoid arthritis factor, antinuclear antibody, C3, elevated sugars, and thyroid levels) were negative. The patient was deteriorating rapidly, and therefore, a course of intravenous immunoglobulins (IvIg) was initiated. Dapsone was also initiated. After therapy with IvIg, the patient improved rapidly. GB syndrome is a neuropathic condition that is characterized primarily by progressive symmetrical weakness and areflexia. Symptoms usually peak at 4 weeks. [1] Several infections affecting predominantly the respiratory and the gastrointestinal tract are implicated in the development of this syndrome. [1,2] While not commonly implicated, vaccination is rarely known to be associated with the syndrome. Influenza, swine flu, tetanus, hepatitis, and more recently, influenza A vaccination are few of the examples that may cause the syndrome. [1,2] Some of the differential diagnosis of the syndrome include brainstem involvement, spinal cord affliction, muscle and neuromuscular disorders, and polyneuropathies such as chronic inflammatory demyelinating polyneuropathy. The latter is acquired symmetrical, proximal and distal limb weakness and sensory disturbances progressing over 2 months. It is also known to be caused by infective agents such as HIV, hepatitis C, and Hansen’s disease. [1,3] Leprosy is a chronic infection that is caused by Mycobacterium leprae. The organism was identified in 1873 by Hansen. It is a neuropathy itself that affects the nerve trunks and cutaneous nerve endings leading to sensory, motor, and autonomic neuropathies. Small fiber neuropathies occur initially whereas the large fiber neuropathies occur late. The most common associations of Hansen’s disease are with classical leprosy neuropathy, pure neuritic leprosy, reactional leprosy neuritis, painful small fiber neuropathy, leprosy late onset neuropathy, autonomic neuropathy, and arthritic leprosy. [4‐6] As of now, it has been hypothesized that lepra reaction may lead to the exposure of neural antigens. These antigens may lead to autoimmune reaction, thereby causing GB syndrome. [7,8] Rarely, cases have been known that present as GB syndrome without any evidence of lepra reaction. [9] To conclude, we present a rare case of GB syndrome that was caused by Hansen’s disease with no evidence of lepra reaction. To the best of our knowledge, there have been only 1 report of similar presentation reported in the past decade. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest. Saumya H Mittal, K C Rakshith, Z K Misri, Shivanand Pai, Nisha Shenoy Department of Neurology, KMC Hospital, Mangalore, Karnataka, India Address for correspondence: Dr. Saumya H Mittal, Department of Neurology, KMC Hospital, Mangalore, Karnataka, India. E‐mail: saumyamittal1@gmail.com References 1. Walling AD, Dickson G. Guillain‐Barré syndrome. Am Fam Physician 2013;87:191‐7. 2. van Doorn PA1, Ruts L, Jacobs BC. Clinical features, pathogenesis, and treatment of Guillain‐Barré syndrome. Lancet Neurol 2008;7:939‐50. 3. Köller H, Kieseier BC, Jander S, Hartung HP. Chronic inflammatory demyelinating polyneuropathy. N Engl J Med 2005;352:1343‐56. 4. Nascimento OJ. Leprosy neuropathy: Clinical presentations. Arq Neuropsiquiatr 2013;71:661‐6. Neurology India | January-February 2017 | Vol 65 | Issue 1 179
Letters to Editor 5. Cardoso Fde M, De Freitas MR, Escada TM, Nevares MT, Nascimento OJ. Late onset neuropathy in leprosy patients released from treatment: Not all due to reactions? Lepr Rev 2013;84:128‐35. 6. Cabalar M, Yayla V, Ulutas S, Senadim S, Oktar AC. The clinical and neurophysiological study of leprosy. Pak J Med Sci 2014;30:501‐6. 7. Grover C, Kubba S, Nanda S, Kumar V, Reddy BS. Leprosy with Guillain Barre syndrome: A new neurologic manifestation? J Dermatol 2004;31:119‐33. 8. Rai VM, Shenoi S, Rao SN. Guillain Barré Syndrome like presentation in borderline leprosy with type 2 reaction. Dermatol Online J 2006;12:21. 9. Kumar S. Guillain‐Barre syndrome in leprosy patients. Indian J Lepr 2005;77:162‐8. This is an open access article distributed under the terms of the Creative Commons Attribution‐NonCommercial‐ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non‐commercially, as long as the author is credited and the new creations are licensed under the identical terms. Website: www.neurologyindia.com DOI: 10.4103/0028-3886.198191 PMID: xxxx Access this article online Quick Response Code How to cite this article: Mittal SH, Rakshith KC, Misri ZK, Pai S, Shenoy N. Guillain–Barré syndrome: A rare manifestation of Hansen's disease. Neurol India 2017;65:179-80. © 2017 Neurology India, Neurological Society of India | Published by Wolters Kluwer - Medknow Novel SCN8A mutation in a girl with refractory seizures and autistic features Sir, A 4‐year‐old girl presented with speech delay and refractory seizures. She had no adverse perinatal events, had normal motor milestones, and could speak only a few bisyllables. She had seizures since 4 months of age. Initially, she had generalized tonic–clonic seizures (2–3 episodes/week) and required multiple anticonvulsant drugs (phenytoin, valproate, lamotrigine, clobazam, and levetiracetam). After 14 months of age, she experienced nocturnal tonic seizures (2–3 times/week) and atypical absences (2–3/day), which continued until her admission to our hospital. The seizures were only occasionally associated with fever. In addition to having seizures, she had autistic features (Childhood Autism Rating Scale score of 32). Her physical examination was unremarkable. Magnetic resonance imaging (MRI) of the brain was normal. Interictal electroencephalogram (EEG) showed a slow background activity with right frontopolar spike‐wave discharges. Karyotype, array comparative genomic hybridization, plasma acylcarnitine profile, and urine organic acids were normal. Next generation sequencing for epilepsy genes [Table 1] revealed a novel pathogenic heterozygous missense mutation (c.4214C>A; p.Ala1405Asp) in the exon 22 of the SCN8A gene. Both the parents were negative for this variant. She was again started on phenytoin with resolution of tonic seizures, persistence of atypical absences, and appearance of daily head‐drops. She was started on modified Atkins diet. However, it had to be stopped after 25 days in view of poor compliance and oral acceptance by the child. Behavioural therapy was initiated and genetic counselling was done. Mutations in SCN8A, encoding one of the main voltage‐gated sodium channel subunits (Nav1.6) in the brain, have been recently described in patients with severe epilepsy and the phenotype is still evolving. [1,2] Seventeen patients with de novo heterozygous mutations of SCN8A were recently reported. [2] The phenotype comprised variable intellectual disability, drug‐refractory epilepsy, autistic features, and prominent motor manifestations (hypotonia, dystonia, hyperreflexia, and ataxia). The mean age at the onset of seizures was 5 months and the reported seizure types included focal, tonic, clonic, myoclonic, atypical absence seizures, epileptic spasms, and febrile seizures. Thus, the genetic testing for SCN8A should be considered in children with unclassified severe epilepsy. This may have a therapeutic implication. Four patients with a missense SCN8A mutation and epilepsy were reported to have a remarkably good response on high doses of phenytoin, and loss of seizure control when the phenytoin medication was reduced. [3] Our patient showed resolution of tonic seizures with phenytoin; however, the other seizure types were unaffected. Due to the recent advances in targeted next‐generation sequencing panels for epileptic encephalopathy/epilepsy, the diagnostic yield for an underlying genetic abnormality has increased in patients with epileptic encephalopathy. The diagnostic yields have been reported to be between 10 and 48.5% in the literature for the 35 to 265 gene panels. [4] This technique has helped us to achieve a diagnosis in the present case. Table 1: Next Generation Sequencing for epilepsy gene panel ADSL, PMM2, ARX, PNKP, SCN2A, PLCB1, SCN8A, KCNT1, GABRA1, GRIN2B, CDKL5, SLC25A22, STXBP1, SPTAN1, SCN1A, KCNQ2, PCDH19, ARHGEF9, GABRG2, GABRB3, CACNA1H, GRIN2A, SCN1B, GABRD, SCN9A, CACNB4, CLCN2, SLC2A1, EFHC1, ALDH7A1, CHD2, SCN2A, KCNQ3, MECP2, MEF2C, FOXG1, CHRNA4, CHRNB2, CHRNA2, DEPDC5, CNTNAP2, LGI1, CPA6, KCNMA1, SRPX2, KCNJ10, PNPO, SLC9A6 (48) 180 Neurology India | January-February 2017 | Vol 65 | Issue 1
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Guillain–Barré syndrome A rare manifestation of Hansen’s ds disease

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