A tale behind the rectum.

Tailgut cysts, also called benign retrorectal hamartomas, are uncommon developmental cysts found behind the rectum. Here, we present a rare case of a tailgut cyst associated with uterine anomaly, sacral and vertebral anomalies and vascular duplication, in a young lady who presented with constipation and infertility.

Management of epilepsy and pregnancy.

Epilepsy is recognized as the commonest serious neurological disorder in the world. Women with epilepsy (WWE) experience several gender-related physical and social problems. They constitute high obstetric risk because of reduced fertility, risk of seizures during pregnancy and complications of pregnancy. Hormonal and other factors can alter the pharmacokinetics of antiepileptic drugs (AED) during pregnancy and puerperium. Antenatal exposure to AEDs, particularly at higher dosage and in polytherapy, increases the risk of fetal malformation. Recent reports raise the possibility of selective developmental language deficits and neurocognitive deficits with antenatal exposure to AEDs. There are concerns regarding the effect of traces of AEDs that pass to the infant during breast-feeding. The pre conception management is the cornerstone for epilepsy care in WWE. A careful reappraisal of each case should ascertain the diagnosis, the need for continued AED therapy, selection of appropriate AEDs, optimization of the dosage and prescription of folic acid. During pregnancy, the fetal status needs to be monitored with estimation of serum a-feto-protein and ultrasound screening for malformations. The dosage of AEDs can be adjusted according to clinical requirement and blood levels of AEDs. Several institutions recommend oral vitamin K toward the end of pregnancy when enzyme-inducing AEDs are prescribed because the latter may potentially predispose the new born to hemorrhagic disease, but recent reports indicate that such a risk is practically negligible. WWE who are using enzyme-inducing AEDs (phenobarbitone, primidone, phenytoin, carbamazepine and oxcarbazepine) need to know that these AEDs may lead to failure of oral contraception.

Neural tube defects: pathogenesis and folate metabolism.

Neural tube defects (NTDs) are a group of congenital malformations with worldwide distribution and complex aetio-pathogenesis. Animal studies indicate that there may be four sites of initiation of neural tube closure (NTC). Selective involvement of these sites may lead to defects varying from anencephaly to spina bifida. The NTC involves formation of medial and dorsolateral hinge points, convergent extension and a zipper release process. Proliferation and migration of neuroectodermal cells and its morphological changes brought about by microfilaments and other cytoskeletal proteins mediate NTC. Genetic, nutritional and teratogenic mechanisms have been implicated in the pathogenesis of NTDs. Folate is an important component in one carbon metabolism that provides active moieties for synthesis of nucleic acids and proteins. Several gene defects affecting enzymes and proteins involved in transport and metabolism of folate have been associated with NTDs. It may be possible in future, to identify individuals at higher risk of NTDs by genetic studies. Epidemiological and clinical studies have shown that dietary supplementation or food fortification with folic acid would reduce the incidence of NTDs. The protective effect of folic acid may be by overcoming these metabolic blocks through unidentified mechanisms. Genetic and biochemical studies on foetal cells may supplement currently available prenatal tests to diagnose NTDs. Antiepileptic drugs (AEDs), particularly valproate and carbamazepine have been shown to increase the risk of NTDs by possibly increasing the oxidative stress and deranging the folate metabolism. Accordingly, it is recommended that all women taking AEDs may use 1-5 mg folic acid daily in the pre conception period and through pregnancy.

Finger tapping activates spikes in benign epilepsy with centro-temporal spikes.

A case of benign epilepsy with centro-temporal spikes (BECT) is reported, in whom tapping of fingures activated typical spikes.

Prenatal screening for neural tube defects.

Neural tube defects are common birth defects with a prevalence of 4-15 per 10000 live-births. Prenatal diagnosis of neural tube defects has implications in obstetric management and many countries have successfully reduced their incidence by adopting nationwide preventive programmes. It is generally accepted that failure of the neural tube to close causes these defects. Periconceptional use of antiepileptic drugs such as valproate and carbamazepine and deficiency of folate is associated with a high incidence of these defects. Procedures for prenatal diagnosis include: (i) assessment of serum markers such as maternal serum alpha-foetoprotein and acetylcholinesterase activity; (ii) prenatal ultrasonography; and (iii) amniocentesis in selected cases. The levels of these two serum markers are increased in neural tube defects and a value of more than two multiples of the median is considered significant. The optimal time for serum screening is 10-18 weeks. In the case of serum markers it is important to apply normative data standardized for a laboratory and the duration of gestation. Antenatal ultrasonography is a simple, non-invasive and widely available test which has a similar sensitivity with lower false positivity compared to serum markers. Early diagnosis by ultrasound demands skill and experience in the procedure. Levels of amniotic fluid alpha-foetoprotein and acetylcholinesterase activity are elevated in neural tube defects. However, increased iatrogenic foetal loss is a disadvantage of this technique. Detailed counselling of the couple needs to be an integral part of the prenatal screening programme.

An expert system for the diagnosis of epilepsy: results of a clinical trial.

BACKGROUND: Artificial intelligence is an area where computer systems are used to solve real-life problems that require expert human intelligence. Expert systems serve as an effective alternative to supplement the dearth of human experts in a narrow domain of applications. We developed an expert system named SEIZ using DIAGNOS (an expert system shell for diagnostic applications) for the diagnosis and management of epilepsy. METHODS: A clinical trial was done to test the reliability of SEIZ. The clinical and demographic data from the medical records of 50 patients with epilepsy who attended an epilepsy clinic were provided to the expert system. The system-generated diagnosis was compared with the clinical diagnosis. RESULTS: The seizure types and epileptic syndromes for the 50 patients included generalized -tonic-clonic seizure (14), absence (4), complex partial seizure (18), simple partial seizure (4), juvenile myoclonic epilepsy (5) and other epileptic syndromes (3). There were two cases of hysterical conversion reaction. There was concordance in the diagnosis between the expert system and clinician in 47 cases (94%). The overall sensitivity was 94% and the specificity was 100% for absence, generalized tonic-clonic seizures, simple partial seizures and juvenile myoclonic epilepsy; 94% for complex partial seizures and 98% for hysterical conversion reaction. CONCLUSION: This expert system could generate reliable diagnoses for patients with epilepsy. Such a system may be useful for a doctor in a remote or peripheral area where an expert on epilepsy is not available.

Pregnancy in women with epilepsy : preliminary results of Kerala registry of epilepsy and pregnancy.

Eighty-five women with epilepsy were followed up for reproductive functions under the registry of epilepsy and pregnancy. 32 of them had completed the pregnancy. Their mean age was 26 years and mean seizure frequency was 0.7 during current pregnancy. Nineteen of them (59.4%) had generalized epilepsy. Nine of them were not on any anti epileptic drugs (AED), 23 women were on various AEDs, 19 being on monotherapy. Only 40% of the women were taking folic acid during pregnancy. Pregnancy ended as spontaneous abortion in one patient. Nearly one third required cesarean section. Majority (87.5%) had term babies. Three (10.7%) babies had birth asphyxia. Six babies (21.4%) had low birth weight. Congenital malformations were detected in four cases (12.5%). Malformations included neural tube defects, talipes equinovarus and other minor anomalies. These babies were exposed to sodium valproate, carbamazepine or phenobarbitone. The risk of malformation was significantly greater (p<0.05) when the mother had generalized epilepsy. The odds ratio for risk of malformation was much higher with sodium valproate (6) than that with carbamazepine (1.2) or phenobarbitone (0.8). Majority of women with epilepsy had safe pregnancy and childbirth without any aggravation of epilepsy.

Money matters in epilepsy.

Cost of epilepsy care has escalated many folds in the recent past. The high cost of newer anti epileptic drugs, cost of elaborate presurgical evaluation and surgery account for a large component of direct medical cost. Indirect cost to the society, through lost productivity or premature death, is many times more than the direct cost. The newer drugs have an advantage over the conventional drugs in terms of tolerability, safety and ease of administration. The benefits in terms of better control of seizures and improvement in quality of life offered by these newer strategies in treatment of epilepsy need to be considered along with the increase in cost. Careful economic evaluation is essential to assess ultimate utility of these interventions in the management of epilepsy at large. Unfortunately, there is little data on this aspect for the physician to apply in his practice. The general principles of economic appraisal of epilepsy and some of the key works in this field are discussed in this paper. The increase in cost due to newer anti epileptic drugs in the treatment of unselected population of patients (mild and severe epilepsy) may not be adequately justified by gains in seizure control. On the other hand newer drugs may have a clear superiority in selected situations such as intractable seizures. The high initial cost of presurgical evaluation and epilepsy surgery may be offset by gains in increased number of quality adjusted life years.

Pathology of temporal lobe epilepsy: An analysis of 100 consecutive surgical specimens from patients with medically refractory epilepsy.

The neuropathological features of temporal lobe epilepsy were studied utilising 100 consecutive surgical specimens from patients with medically refractory complex partial seizures. A wide spectrum of neuropathological changes was recorded in 98 specimens. Fifty-eight specimens showed features of Ammon's horn sclerosis. Diffuse accumulation of corpora amylacea were demonstrated in the resected temporal lobes from 54 patients. Six patients had neoplastic lesions of temporal lobe. One unique case of dysembryoplastic neuroepithelial tumour showed a melanotic component within the tumour. The neuropathological features were regarded as nonspecific in 31% of cases. Our results indicate that a majority of patients with medically intractable epilepsy of temporal lobe origin reveal significant neuropathological features. Careful documentation of the neuropathological features and its correlation with radiological, electrophysiological and pre- and post-surgical clinical features will help in predicting the seizure outcome after temporal lobectomy for medically refractory epilepsy.

Neuropsychological impairment and altered thyroid hormone levels in epilepsy.

BACKGROUND: Neuropsychological impairment is a common problem in epilepsy which interferes with the quality of life of patients. Similarly, thyroid hormone levels have been observed to be abnormal in patients with epilepsy on various treatments. This study aimed to ascertain any possible correlation between neuropsychological performance and thyroid hormone levels among epilepsy patients. METHODS: Thyroid hormone levels, indices of neuropsychological performance and social adaptation of 43 epilepsy patients were compared with those of age- and sex-matched healthy control subjects. RESULTS: Epilepsy patients exhibited significantly (p < 0.001) lower scores on attention, memory, constructional praxis, finger tapping time, and verbal intelligence quotient (i.q.) when compared with controls. Their T3, T4 and Free T3 levels were significantly lower; and TSH and Free T4 levels were significantly higher than that of controls. There was no statistically significant correlation between the indices of neuropsychological performance and thyroid hormone levels. CONCLUSION: We did not observe any correlation between neuropsychological impairment and thyroid hormone levels among patients with epilepsy.

Reversible non enhancing lesions without focal neurological deficits in eclampsia.

Nine patients with eclampsia, were subjected to computerized tomographic scan (CT scan) of the head to ascertain the changes in the brain that accompany seizures and encephalopathy of eclampsia. Only those patients who had a seizure within the past 24 h were included in this study. None of the patients had any focal neurological deficit. Six of the nine patients had abnormal findings on CT scan consisting of multiple non enhancing hypodensities in the cerebral white matter. One patient also had subependymal haemorrhage over the lateral ventricle. These changes were found to have disappeared when the CT scan was repeated on the seventh day. There was no correlation between the mean arterial blood pressure or the number of seizures and the presence of hypodensities in the brain. These findings suggest that subclinical changes in the form of reversible hypodensities and rarely bleeding can occur in eclampsia even when patients have no focal neurological deficits. It appears that these lesions represent focal areas of cerebral oedema, secondary to failure of autoregulation of cerebral blood flow.

Postal follow up of patients with epilepsy.

BACKGROUND. Epilepsy services in India are mostly located in urban areas and are often overcrowded. It is difficult, therefore, to organize long term management programmes. We report our experience at a tertiary referral centre on follow up of patients with epilepsy through regular postal review. METHODS. One hundred consecutive patients with epilepsy (63 men, 37 women, mean age 17 years) who had only seizures were followed up by post using a questionnaire, instead of reviewing them in a clinic. The safety, utility and efficiency of this system were evaluated. RESULTS. Sixty patients had generalized seizures, 30 had complex partial seizures and 10 had other types of seizures. The indication for shifting to postal review was good control of seizures in 87 cases and economic reasons in the remaining. Postal review constituted 60% of the total follow up period in 55 cases. Sixty-six patients could be maintained on postal review which was suspended or discontinued in 34 patients. Of these 34, 16 were returned to it after being seen in the clinic on a further occasion. Poor control of seizures, fresh medical or social problems, lack of confidence or a combination of these were the reasons for discontinuing the postal review. The economic benefit to a patient by way of savings in travel, incidental expenses and lost wages was estimated to be Rs 750 per annum. The work load in the epilepsy clinic was decreased by 40%. No serious medical problems or mortality were reported in the study population. CONCLUSION. Systematic postal review is a cost-effective alternative to clinic review in the long term follow up of a certain group of patients with epilepsy.