Skull-base temporal encephalocele: Hidden cause of temporal lobe epilepsy.

In the present study patients with previously diagnosed MRI-negative temporal lobe epilepsy (TLE) on long-term video electroencephalography (VEEG) monitoring were re-evaluated with high resolution 3T MRI brain to look out for a skull base temporal lobe encephalocoele (TE). A total of 234 VEEGs were analyzed. TLE had been diagnosed in 104 patients based on semiology, ictal, interictal EEG data, and brain positron emission tomography (PET) studies. Of these, 99 patients had temporal lobe abnormality (78 had mesial temporal sclerosis, 8 had tumor, 3 had focal cortical dysplasia, and 10 had mixed pathology). Out of the five 1.5T MRI-negative TLE patients, two patients were diagnosed with TE on subsequent 3T MRI brain scans and one patient underwent electrocorticography-guided tailored resection for complete removal of epileptogenic tissue; with Engels class I seizure freedom at one year follow-up. We propose that TE should be carefully searched for, as a cause of refractory TLE, using high-resolution MRI sequences.

Association of polymorphisms of CYP2C9, CYP2C19, and ABCB1, and activity of P-glycoprotein with response to anti-epileptic drugs.

BACKGROUND AND OBJECTIVE: Epilepsy, the most common neurological disorder, has treatment failure rate of 20 to 25%. Inter-individual variability in drug response can be attributed to genetic polymorphism in genes encoding different drug metabolizing enzymes, drug transporters (P-gp), and enzymes involved in sodium channel biosynthesis. The present study attempted to evaluate association of polymorphisms of CYP2C9, CYP2C19, and ABCB1, and P-gp activity with treatment response in patients with epilepsy. MATERIALS AND METHODS: Patients with epilepsy on phenytoin and/or phenobarbital and/or carbamazepine were categorized into responders and non-responders as per the International League Against Epilepsy. Plasma drug concentration was estimated by high-performance liquid chromatography. P-gp activity was measured by flow cytometry using rhodamine efflux. The polymerase chain reaction (PCR-RFLP) was used to study polymorphisms of ABCB1 (C3435T), CYP2C9 (416 C > T, and 1061 A > T), and CYP2C19 (681 G > A and 636 G > A). RESULTS: Of total 117 patients enrolled in this study, genotype data was available for 115 patients. P-gp activity was higher in non-responders (n = 68) compared to responders (n = 47) (P<0.001). No association of 416 C > T and 1061 A > T in CYP2C9 or 681 G > A and 636 G > A in CYP2C19 was observed with response phenotype in genotypic analysis. Significant genotypic (odds ratio, OR = 4.5; 95% CI, 1.04 to 20.99) and allelic association (OR = 1.73; 95% CI, 1.02 to 2.95) was observed with ABCB1 C3435T and response phenotype. CONCLUSIONS: The response to antiepileptics seems to be modulated by C3435T in ABCB1 or P-gp activity. At present, role of other genetic factors in treatment responsiveness in epilepsy appears limited, warranting analysis in a larger cohort.

The effect of phenobarbitone on cognition in adult patients with new onset epilepsy: a multi-centric prospective study from India.

OBJECTIVE: In view of the conflicting results of cognitive and behavioral consequences of PB, the present study was planned to analyze its efficacy, serial neuropsychological functions and its impact on psychosocial functioning in adults with epilepsy while on phenobarbitone (PB). METHODOLOGY: This prospective multi-centric study carried out across 4 centers in India included 75 adult patients of ≥18 years (M:F=52:23; age: 27.3 ± 8.5 years) with epilepsy who were prescribed phenobarbitone and underwent serial standardized neuropsychological assessment (NIMHANS battery for adults) at baseline, 1 month, 3 months, 6 months and 12 months. The demographic, seizure details and outcome measures were recorded. RESULTS: Of the 75 patients, 63 had completed clinical and neuropsychological assessment, i.e. visit 1 (baseline), visit 4 (6 months) and visit 5 (12 months). There was no deterioration rather an improvement during the follow visits in all the neuropsychological functions. The results indicate that 16 neuropsychological variables changed significantly, viz. mental speed (p<0.001), sustained attention (p<0.001), focused attention (p<0.002), planning (p<0.001), concept formation (p<0.05), set shifting (p<0.001), verbal learning (p<0.0001), verbal memory (p<0.0001), visual memory (p<0.0001) and intelligence (p<0.001). The scales measuring the outcome of psychosocial functioning significantly changed during follow up included happiness (p<0.002), Impact of Epilepsy on patient's life (p<0.02), A-B Neuropsychological Assessment (p<0.015), HADS anxiety (p<0.001) and emotional disorder (p<0.006). There was a significant reduction in seizure severity as measured by Liverpool Seizure Severity Scale (p<0.002) and seizure freedom was maintained. CONCLUSIONS: This study demonstrated that phenobarbitone is effective, well tolerated AED and do not have cognitive impairment over one year. There was variable but distinct improvement in cognition and psychosocial functioning, and effective seizure control could be one of the factor for it.

Myotonic dystrophy in a patient of celiac disease: a new association?

Celiac disease (CD) has long been known to be associated with neurological and psychiatric manifestations; its in association with myotonic dystrophy however has not yet been reported. We report the case of a 27-year old female patient who presented to us with diarrhoea, weight loss, easy fatigability, irritability and alopecia of 8 months duration and was diagnosed to have celiac disease and put on gluten free diet. 8 weeks later she developed neurological symptoms and was found to have myotoni dystrophy in addition. At six month follow up patient had gained 5 kg, but the neurological symptoms remained the same. Treatment of neurological symptoms associated with gluten hypersensitivity depends on the type of neurological syndrome associated. Only exceptionally do these symptoms improve with gluten restriction and, in some patients, the neurological manifestations even progress despite resolution of both pathologic findings and intestinal symptoms.

Multiple sclerosis: experience in neuroimaging era from western India.

31 patients of multiple sclerosis (MS) diagnosed in the last six years in a large teaching hospital were reviewed. The hospital incidence of 0.85% of total admissions in neurology unit in western India is comparable to the series from other parts of India. The mean age at onset was slightly lower compared to other series. The female preponderence was noted in addition to higher incidence of Devic's syndrome. Visual loss (47%) and motor weakness (27%) were the commonest presenting symptoms. The clinical pattern was more similar to Asian series of MS than the western series. All patients underwent magnetic resonance imaging (MRI) scan. 24 out of 25 MRI of Brain and 15 out of 16 MRI of spine were abnormal. CSF immuno-globulins were raised in 80% of patients who underwent CSF study. The data has been compared with other Indian, Asian and Western series.

Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24.

Childhood absence epilepsy (CAE), a common form of idiopathic generalized epilepsy, accounts for 5%-15% of childhood epilepsies. To map the chromosomal locus of persisting CAE, we studied the clinical and electroencephalographic traits of 78 members of a five-generation family from Bombay, India. The model-free affected-pedigree member method was used during initial screening with chromosome 6p, 8q, and 1p microsatellites, and only individuals with absence seizures and/or electroencephalogram 3-4-Hz spike- and multispike-slow wave complexes were considered to be affected. Significant P values of .00000-.02 for several markers on 8q were obtained. Two-point linkage analysis, assuming autosomal dominant inheritance with 50% penetrance, yielded a maximum LOD score (Zmax) of 3.6 for D8S502. No other locus in the genome achieved a significant Zmax. For five smaller multiplex families, summed Zmax was 2.4 for D8S537 and 1.7 for D8S1761. Haplotypes composed of the same 8q24 microsatellites segregated with affected members of the large family from India and with all five smaller families. Recombinations positioned the CAE gene in a 3.2-cM interval.

Congenital paretic syphilis presenting as progressive myoclonic encephalopathy.

A seventeen year old male, who presented with progressive behavioral abnormalities, mental deterioration, unsteadiness, myoclonic jerks and generalized tonic-clonic seizures is described. CSF and serum VDRL were positive as also his mother's TPHA. The EEG was consistent with myoclonic jerks.

Malignant hypertension due to reflux nephropathy in an adolescent (a case report).

Malignant hypertension in an adolescent due to reflux nephropathy (RN) is rare. Here we are presenting such a case unassociated with the usual symptoms of hypertension. The problems of diagnosis, management, prognosis and prevention of RN are discussed with a review of relevant literature.