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Background and Aim: Epilepsy often leads to cognitive impairment. Idiopathic generalized epilepsy as a group is considered to be benign in terms of its effects on cognition. Though, neuropsychological testing reveals subtle frontal impairment in patients with juvenile myoclonic epilepsy (JME). The aim of this study is to evaluate cognitive dysfunction in patients with JME. Method: We compared 50 JME patients and 50 age and sex matched healthy controls above 12 years of age on various cognitive tests which included Mini Mental State Examination (MMSE), Frontal Assessment Battery (FAB), Executive Interview (EXIT), PGI Memory Scale (PGIMS), Clock Drawing Test (CDT), Cube copying test (CCT), and Nahor Benson Test (NBT). We correlated the cognitive dysfunction with education level, age of onset, duration of epilepsy, electroencephalogram (EEG) abnormalities, treatment, and seizure control status. Results: JME patients performed significantly worse on MMSE ( P = 0.001), PGI MS ( P value = 0.001), FAB ( P =.001), EXIT ( P =.001), CDT ( P =.02), and CCT ( P =.001) when compared to the controls. JME patients had impaired attention, verbal fluency, design fluency, verbal memory, visual memory, conceptualization, set shifting, mental flexibility, response inhibition, and visuospatial functions. Cognitive dysfunction correlated with education level, duration of epilepsy and EEG abnormality. No correlation was seen with seizure frequency or type of antiepileptic therapy. Conclusions: JME patients demonstrate both frontal and parietooccipital lobe dysfunction. Hence detailed higher mental function tests supplemented by functional neuroimaging studies should be done in JME patients for their comprehensive management. This would also enhance our knowledge about the pathogenesis of JME.

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Chikungunya virus (CHIKV) is an arbovirus endemic to South Asia with frequent outbreaks. A wide spectrum of neurological complications has been described in Chikungunya infections. Myeloneuropathy is a rare complication seen in Chikungunya and is proposed to have an underlying immune mediated pathogenesis. We report a case of a 45-year-old man presenting to the emergency services with acute onset of quadriparesis, breathlessness, urinary retention, profound pain, and sensory disturbances 6 weeks after the onset of high-grade fever and arthralgia. On examination, the patient had Medical Research Council grade 1 flaccid quadriparesis with prominent wasting and areflexia with distinct sensory level at T4. Immunoglobulin M CHIKV antibodies were positive, tested twice at a 1-week interval. He had notable magnetic resonance imaging (MRI) findings in the form of patchy T2 hyperintensities involving the entire length of the cervical and thoracic cord with normal brain imaging and extensive short tau inversion recovery hyperintense signal changes on muscle MRI. He was treated with five cycles of plasmapheresis and intravenous methylprednisolone followed by oral steroids for 8 weeks. At 20-week follow-up, the patient had improvement in upper limb weakness, but paraparesis persisted. The case highlights the presence of unusual MRI findings and also the importance of early recognition of after infective neurological complications, and prompt treatment with immunomodulation may be beneficial.

Background: Late onset Pompe disease (LOPD) is rare and generally manifests predominantly as progressive limb girdle muscle weakness. It is linked to the pathogenic mutations in GAA gene, which leads to glycogen accumulation in various tissues. Materials and methods: We describe the unusual clinical, biochemical, histopathological and genetic characteristics of 5 cases of LOPD. Results: The first case had progressive anterior horn cell like disease (AHCD) that evolved later to classical limb girdle syndrome and respiratory failure, the second patient had rigid spine syndrome with gastrointestinal manifestations, the third had limb girdle weakness superimposed with episodic prolonged worsening and respiratory failure, the fourth had large fibre sensory neuropathy without primary muscle involvement and the fifth presented with classical limb girdle muscle weakness. Two homozygous missense mutations c.1461C > A (p.Phe487Leu) and c.1082C > T (p.Pro361Leu) in the GAA gene were identified in case 1 and 2 respectively. Case 3 was compound heterozygous with inframe c.1935_1940del (p.Val646_Cys647del) and an intronic splice effecting variant c.-32-13T > G. Compound heterozygous missense variants c.971C > T (p.Pro324Leu) and c.794G > A (p.Ser265Asn) were identified in case 4. Case 5 had a frameshift insertion c.1396dupG (p.Val466GlyfsTer40) and a synonymous splice affecting variant c.546G > T(p.Thr182=). Conclusion: We are describing for the first time from India on LOPD with unusual phenotypes identified. A high degree of clinical suspicion and diagnosing rare phenotypes of Pompe disease is imperative to consider early initiation of Enzyme Replacement Therapy (ERT).