Surgical Outcome of Pharmaco Refractory Epilepsy in the National Epilepsy Center of Sri Lanka.

BACKGROUND: The National Epilepsy Center (NEC) in Sri Lanka was established in 2017. Seizure outcome, effects on quality of life (QOL) and surgical complications among nonpediatric patients who underwent epilepsy surgery from October 2017 to February 2023 are described. METHODS: Nineteen patients (≥14 years) underwent epilepsy surgery at the NEC. We used Engel classification and Quality of Life in Epilepsy 31 (QOLIE-31) questionnaire to assess seizure outcome and QOL respectively. Surgical complications were categorized into neurological and complications related to surgery. RESULTS: Nine female and 10 male patients underwent surgery (mean age 27.5 years (range 14-44 years). The mean follow-up duration was 10.5 months (range 6-55 months). Twelve patients underwent temporal lobe resections. At 6-months follow-up, 83.3% (10/12) had favorable seizure outcomes with Engel class I/II. At 1-year follow-up 6/8 patients (75.0%) and at 2-year follow-up, 5/7 patients (71.4%) had a favorable outcome. Seven patients had extra-temporal lobe surgeries and one defaulted. Seizure freedom was observed in 6/6 at 6 months, 3/3 at 1-year, and 2/2 at 2-year follow-up. Five patients (26.3%) experienced minor post-operative surgical site infection. Two (11.1%) had persistent quadrantanopia. Meaningful improvement in QOL (change in QOLIE-31 score ≥11.8) was observed irrespective of seizure outcome or type of surgery (P < 0.001). CONCLUSIONS: Epilepsy surgery is effective in developing countries. Seizure outcomes in our patients are comparable to those worldwide. Clinically important QOL improvement was observed in our series. This is the first published data on epilepsy surgery outcomes in nonpediatric patients from Sri Lanka.

Adaptation and Validation of a Sinhala version of the Radbound Oral Motor Inventory (ROMP) for Parkinson's disease.

Background: The Radboud Oral Motor Inventory for Parkinson's disease (ROMP) is a patient-rated assessment measuring patients' perceptions of speech, swallowing, and saliva control among patients with idiopathic Parkinson's disease (IPD). Objective: The present study was carried out to adapt and validate the Sinhala version of the ROMP questionnaire in a Sinhala-speaking patient cohort diagnosed with IPD. Materials and Methods: The study population consisted of patients diagnosed with IPD attending a tertiary care neurology clinic at the National Hospital of Sri Lanka. ROMP was translated from English to Sinhala, and an expert committee verified its content. Construct validity was assessed by correlating the Sinhala ROMP scores with the subscales in speech, salivation, and swallowing of the Unified Parkinson's Disease Rating Scale and with five-point Likert-type scale to assess dysarthria, dysphagia, and drooling by a speech and language therapist. Test-retest reproducibility was assessed by repeating the questionnaire in 2 weeks. Results: A cohort of 21 patients was evaluated (male to female ratio = 2.5:1, mean age was 58.8 [±8.3] years). The Spearman's correlations between ROMP and the Likert-type scale assessment, that is, speech r = 0.85 (P < 0.01), swallowing r = 0.86 (P < 0.01), and drooling r = 0.88 (P < 0.01), and subscales of the UPDRS were statistically significant, that is, speech r = 0.75 (P < 0.01), swallowing r = 0.96 (P < 0.01), and salivation r = 0.94 (P < 0.01). Reproducibility of the three domains and total intraclass correlation coefficients indicated a high level of agreement in test-retest reproducibility (range: 0.98-0.99). The three subdomains of the instrument also had excellent internal consistency (total Cronbach's α = 0.99). Conclusion: The Sinhala version of ROMP has proved to be a good assessment tool for dysphagia, dysarthria, and drooling in the early stage of IPD patients.

A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report.

Congenital myasthenic syndromes (CMS) are genetically determined heterogenous disorders of neuromuscular transmission. We report a rare mutation of COLQ causing CMS in an Asian man that remarkably improved with fluoxetine. A 51-year-old Sri Lankan man with slowly progressive fatigable muscle weakness since eight years of age, presented with type 2 respiratory failure that required mechanical ventilation in the acute crisis and subsequent home-based non-invasive ventilation. His birth and family histories were unremarkable. On examination, he had limb girdle type of muscle weakness with fatigability and normal tendon reflexes with no ocular or bulbar involvement. DNA sequencing revealed a pathogenic homozygous mutation in COLQ gene: ENST00000383788.10:exon16:c.1228C>T:p.R410W, the first report in an Asian. Treatment with fluoxetine resulted in remarkable improvement and regain of muscle power and independence from assisted ventilation.

Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report.

Congenital myasthenic syndromes (CMS) result from genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. The slow-channel CMS (SCCMS) is an autosomal dominant postsynaptic defect caused by mutations in genes encoding alpha, beta, delta, or epsilon subunits of the acetylcholine receptor resulting in a functional defect which is an increase of the opening time of the receptor. We report a case of SCCMS due to a heterozygous mutation in the M2 domain of the AChR alpha subunit - CHRNA1:ENST00000348749.6:exon7:c.806T>G:p.Val269Gly and corresponding kinetic defect. A substitution of valine with phenylalanine in the same position has been previously described. This is the first reported case of a new CHRNA1 variant in a patient with SCCMS from South Asia. We also highlight the phenotype that would favour a genetic basis over an autoimmune one, in an adult presenting with fatigable weakness.

Contrast-induced encephalopathy: a complication of coronary angiography.

Contrast-induced encephalopathy is a rare idiosyncratic reaction to contrast material. A 56-year-old woman with hypertension developed a hemiparesis with confusion and disorientation 3 hours after routine coronary angiography. The procedure had been prolonged, and during it she had received 130 mL of iopromide contrast. A metabolic screen was negative, and cerebral angiography and MR scan of brain were normal. She recovered completely by day 5. Contrast-induced encephalopathy should be considered in patients developing focal neurological deficits following coronary angiography. Patients requiring investigations to exclude acute stroke in this setting should not receive additional intravenous or intra-arterial contrast, although MR with gadolinium appears safe. Better awareness of this complication should avoid potentially harmful interventions such as thrombolysis.

Jaw tremor: a manifestation of vascular parkinsonism? - a case report.

BACKGROUND: Vascular Parkinsonism (VP) is a heterogeneous group of conditions that manifest clinically in parkinsonian features, but are presumably of vascular cause. It is usually bilateral, non-tremulous, and frequently associated with pyramidal signs. Classically VP is described as lower body parkinsonism affecting predominantly the legs. CASE PRESENTATION: A 67 years old lady presented with a history of acute onset jaw tremor, with tremor predominantly in both upper limbs. Neurological examination revealed hypomimia of the face with cogwheel rigidity and bradykinesia bilaterally, predominantly in the upper limbs without pyramidal signs. She had a marked tremor of the jaw at rest. When she was asked to open her mouth the tremor was re-emergent. Non contrast CT scan of her brain revealed an infarction in the region of putamen on the left with no evidence of diffuse subcortical white matter ischemia or extension to the caudate nucleus. She was treated with levodopa and responded well to medication. CONCLUSIONS: This case describes atypical clinical features which could be associated with VP including jaw tremor. This case also stresses the importance of initiating a trial of levodopa as certain patients may respond well to medication.

Efficacy of Botulinum Toxin Type A in Trigeminal Neuralgia in a South Asian Cohort.

INTRODUCTION: The antinociceptive effect of botulinum toxin-A (BTX-A) in trigeminal neuralgia (TN) has been described. We evaluated effects of BTX-A in relieving pain in patients with refractory TN at National Hospital of Sri Lanka. MATERIALS AND METHODS: Pain in patients with TN was assessed using a visual analog from 0 to 10. Three months after commencement of drug therapy with ≥2 drugs including one first-line drug (carbamazepine/oxcarbazepine), pain scores were re-assessed. Twenty-two patients who did not report improvement of ≥50% at 90 days' posttreatment were recruited. They were given adjunct BTX-A directly to the trigger point (if identified) or intradermal. Pain scores were assessed at 10, 20, 30, 60, and 90 days' posttreatment. RESULTS: There was a statistically significant improvement in mean pain scores at 10, 20, 30, 60, and 90 days' posttreatment (5.59 [standard deviation (SD) = 2.7], 5.68 [SD = 2.6], 5.27 [SD = 3.2], 4.77 [SD = 3.7], and 5.32 [SD = 4.0]) compared to pre-BTX-A treatment (7.14, SD = 2.2). Percentage reduction in mean pain score ranged from 20.4% to 33.1%. Maximum response was at day 60 post-BTX-A (50% had ≥50% reduction in pain). No significant difference was found in response with higher doses and injection strategy. CONCLUSION: Consistent statistically significant reductions in pain scores at the aforesaid intervals compared to pretreatment means that there is a place for BTX in refractory TN.

Comparing neurostimulation technologies in refractory focal-onset epilepsy.

For patients with pharmacoresistant focal epilepsy in whom surgical resection of the epileptogenic focus fails or was not feasible in the first place, there were few therapeutic options. Increasingly, neurostimulation provides an alternative treatment strategy for these patients. Vagal nerve stimulation (VNS) is well established. Deep brain stimulation (DBS) and cortical responsive stimulation (CRS) are newer neurostimulation therapies with recently published long-term efficacy and safety data. In this literature review, we introduce these therapies to a non-specialist audience. Furthermore, we compare and contrast long-term (5-year) outcomes of newer neurostimulation techniques with the more established VNS. A search to identify all studies reporting long-term efficacy (>5 years) of VNS, CRS and DBS in patients with refractory focal/partial epilepsy was conducted using PubMed and Cochrane databases. The outcomes compared were responder rate, percentage seizure frequency reduction, seizure freedom, adverse events, neuropsychological outcome and quality of life. We identified 1 study for DBS, 1 study for CRS and 4 studies for VNS. All neurostimulation technologies showed long-term efficacy, with progressively better seizure control over time. Sustained improvement in quality of life measures was demonstrated in all modalities. Intracranial neurostimulation had a greater side effect profile compared with extracranial stimulation, though all forms of stimulation are safe. Methodological differences between the studies mean that direct comparisons are not straightforward. We have synthesised the findings of this review into a pragmatic decision tree, to guide the further management of the individual patient with pharmacoresistant focal-onset epilepsy.

Update on management of epilepsy in women for the non-neurologist.

Epilepsy is a common neurological disorder, prevalent in about 1% of the population. Almost half of the patients with epilepsy are women. Epilepsy and antiepileptic drugs can affect each aspect of the female human life cycle which includes menstrual cycle, contraception, fertility, conception, pregnancy and menopause. The interplay of the female hormonal state and epilepsy is complex and has to be taken in to consideration when managing their epilepsy. This review focuses on the management of women with epilepsy related to their role in reproduction.

Toxic encephalopathy due to colchicine--Gloriosa superba poisoning.

Gloriosa superba, a flowering plant widespread in South and Southeast Asia, is implicated in many cases of self-poisoning. Colchicine is concentrated in the seeds and tubers and this mediates its toxicity. We describe a 28-year-old woman who developed delayed encephalopathy after eating G superba tubers. MR scan of brain showed bilateral symmetrical T2 basal ganglia hyperintensities in the caudate and lentiform nuclei. The delay in onset of encephalopathy is attributable to a direct-effect colchicine, probably mediated through its effect on microtubular transport.

Neurological manifestations of dengue: a cross sectional study.

BACKGROUND: Dengue is an infectious disease caused by a virus of the flaviviridae family. It is a multi systemic illness causing considerable morbidity and mortality. A spectrum of neurological manifestations has been associated with dengue. METHODS: This was a descriptive cross sectional study including patients diagnosed with Dengue fever (DF), Dengue with warning signs and severe dengue with neurological sequale presenting to the Institute of Neurology, National Hospital of Sri Lanka from June 2011 to August 2012. All patients underwent serology testing for Dengue IgM in blood and CSF as confirmation of the diagnosis. RESULTS: Seven patients were included. 1/7 had bilateral optic neuritis (ON), 3/7 had a cerebellar syndrome (CS), 2/7 had transverse myelitis (TM) and 1/7 had cranial nerve palsy. The patient with ON had a post-infectious pattern and protracted recovery. All patients with CS had bilateral involvement. All had a self limiting course with complete recovery. Two were associated with acute infection. Both patients with TM had longitudinally extensive disease with one patient experiencing complete recovery. The patient with cranial nerve involvement had isolated 6th nerve palsy. CONCLUSIONS: Neurological manifestations of dengue are diverse. It is important to consider dengue as a cause for the above neurological presentations in hyper endemic territories for the disease.

Idiopathic hypertrophic pachymeningitis presenting with a superficial soft tissue mass.

Idiopathic hypertrophic pachymeningitis (IHP) is a chronic progressive diffuse inflammatory fibrosis of the dura-mater, leading to its diffuse enlargement. The following describes a case of IHP presenting with a superficial soft tissue mass. A 40-year-old female came to hospital with a subcutaneous lump over the left face and frontal headache for 6 months. An excision biopsy revealed chronic inflammation. Magnetic resonance imaging (MRI) of the brain showed left mastoiditis and early dural inflammation of the left temporal region. A few months later, she developed diplopia, complex partial seizures, and retrobulbar neuritis of the left optic nerve. Repeat MRI brain demonstrated meningeal thickening on both sides of the tentorium cerebelli extending to the left tempero-parietal meninges. The meningeal biopsy revealed markedly thickened fibro-connective dural tissue with infiltration of chronic inflammatory cells. There was no evidence of bacterial, fungal, tuberculous or neoplastic infiltration. IHP was diagnosed and steroid therapy initiated. Within weeks, she showed marked clinical improvement. IHP is a diagnosis of exclusion. The absence of underlying infective, neoplastic, or systemic autoimmune disease favors IHP. The above patient had headache, neuro-ophthalmic signs, seizures, which are features of IHP. However, superficial soft tissue involvement is rare.

Treatment-related fluctuation in Guillain-Barre syndrome.

Guillain-Barre syndrome (GBS) is usually a monophasic illness but relapses occur. A 55-year-old female with hypertension and vitiligo presented with acute inflammatory demyelinating polyradiculoneuropathy. She improved with immunoglobulin treatment started on day 6 of illness, but relapsed on day 14 warranting repeat immunoglobulin therapy. Thereafter recovery was complete. Her relapse was due to treatment-related fluctuation (TRF). TRF is improvement in the GBS disability scale of at least one grade after completion of immunotherapy followed by worsening of the disability scale of at least one grade within the first 2 months after disease onset. Recurrent GBS and chronic inflammatory demyelinating polyradiculoneuropathy were excluded. During the peak of the illness ANA titres were transiently high. The presence of other medical conditions, predominant proximal weakness and the absence of preceding diarrhea are predictors for TRF seen in this patient. Early treatment and evidence of ongoing immune activation have contributed toward TRF.