Diagnosis of pyridoxine-dependent epilepsy in an adult presenting with recurrent status epilepticus.

Pyridoxine-dependent epilepsy (PDE) is a genetic metabolic disease caused by inborn errors affecting vitamin B6 metabolism, which typically presents with neonatal seizures resistant to antiepileptic drugs (AEDs). Treatment with pyridoxine terminates seizures and prevents neurological decline. We describe a case in which the diagnosis was established at the age of 22 years. Birth and development were normal, but there was a history of three isolated tonic-clonic seizures during childhood and adolescence. At the age of 18 years, she developed frequent focal motor seizures, many evolving into tonic-clonic seizures. Electroencephalography identified a focus in the posterior right hemisphere, but magnetic resonance imaging of the brain was normal. Over the next 3 years, she was hospitalized with uncontrolled seizures on six occasions and spent a total of 121 days in intensive care. The seizures proved resistant to 12 different AEDs. Exome sequencing revealed two pathogenic mutations in ALDH7A1. Since starting on pyridoxine 50 mg once daily, she has been seizure-free, all AEDs have been withdrawn, and cognition has improved to premorbid levels. This case illustrates the importance of considering PDE in drug-resistant epilepsy in adults.

Reversible cerebellar oedema secondary to profound hypomagnesaemia.

Magnesium is the second most abundant intracellular cation. Deficiency can cause several neurological complications, including cerebellar syndromes, with various MRI findings. These include cerebellar oedema, presumably through a similar mechanism to that in posterior reversible encephalopathy syndrome (PRES). People particularly vulnerable to deficiency include those with high alcohol consumption, excessive loss due to gastrointestinal pathology and those taking certain medications, including proton pump inhibitors. We report three patients with cerebellar syndromes associated with hypomagnesaemia. These cases support the previously reported association between hypomagnesaemia and reversible cerebellar dysfunction and illustrate the range of potential presentations. They highlight an uncommon but treatable cause of cerebellar ataxia that may present to acute neurological liaison services.

Epilepsy in sub-Saharan Africa.

Over 10 million people in Africa have epilepsy of which most have no access to appropriate treatment. Epilepsy in Africa is different- the incidence is higher, and the causes and cultural attitudes towards it differ. This article examines the epidemiology, causes and treatment of epilepsy in sub-Saharan Africa and looks at the challenges to improve access to treatment and potential solutions and the implications for neurologists in more developed countries.

Epilepsy, poverty and early under-nutrition in rural Ethiopia.

PURPOSE: The incidence of epilepsy in Ethiopia is high compared with industrialised countries, but in most cases the cause of epilepsy is unknown. Childhood malnutrition remains widespread. We performed a case-control study to determine whether epilepsy is associated with poverty and markers of early under-nutrition. METHODS: Patients with epilepsy (n=112), aged 18-45years, were recruited from epilepsy clinics in and around two towns in Ethiopia. Controls with a similar age and gender distribution (n=149) were recruited from patients and relatives attending general outpatient clinics. We administered a questionnaire to define the medical and social history of cases and controls, and then performed a series of anthropometric measurements. Unconditional logistic regression was used to estimate multivariate adjusted odds ratios. Multiple linear regression was used to estimate adjusted case-control differences for continuously distributed outcomes. RESULTS: Epilepsy was associated with illiteracy/low levels of education, odds ratio=3.0 (95% confidence interval: 1.7-5.6), subsistence farming, odds ratio=2.6 (1.2-5.6) and markers of poverty including poorer access to sanitation (p=0.009), greater overcrowding (p=0.008) and fewer possessions (p<0.001). Epilepsy was also associated with the father's death during childhood, odds ratio=2.2 (1.0-4.6). Body mass index was similar in cases and controls, but patients with epilepsy were shorter and lighter with reduced sitting height (p<0.001), bitrochanteric diameter (p=0.029) and hip size (p=0.003). Patients with epilepsy also had lower mid-upper arm circumference (p=0.011) and lean body mass (p=0.037). CONCLUSION: Epilepsy in Ethiopia is strongly associated with poor education and markers of poverty. Patients with epilepsy also had evidence of stunting and disproportionate skeletal growth, raising the possibility of a link between early under-nutrition and epilepsy.

Very good inter-rater reliability of Engel and ILAE epilepsy surgery outcome classifications in a series of 76 patients.

The inter-rater reliability, expressed as kappa score, k, of the Engel and International League Against Epilepsy (ILAE) classifications of epilepsy surgery seizure outcome has not previously been evaluated. In a consecutive series of 76 patients (40 male; 25 children), 75 undergoing resective and 1 disconnective surgery at a mean age of 27.5 years (13 months-62 years), one observer classified 88% (n=67) and a second observer classified 87% (n=66) of patients as either Engel I or II (free from or rare disabling seizures) after a median follow up of 36 months (range 12-92 months); comparably, both observers classified 84% (n=64) as ILAE 1-3. Correlation for Engel versus ILAE for observer 1 was 0.933 (p<.0005) and for observer 2 was 0.931 (p<.0005). Both ILAE (k 0.81, 95% confidence intervals 0.69, 0.91) and Engel (k 0.77, 95% CI 0.65, 0.87) classifications have very acceptable inter-rater reliability as well as significant correlation.

Headache and high ESR: A cautionary tale.

A 69-year-old woman with new persistent right temporal headache and high ESR was diagnosed with temporal arteritis in primary care. She was started on steroids, but developed a right 6th nerve palsy with continuing headache and raised inflammatory markers. Investigation revealed a sphenoid sinus abscess with intracranial extension and extensive cerebral venous sinus thrombosis. The abscess was drained endoscopically and she was treated with antibiotics and anticoagulation. Over the course of two months she made a complete recovery.

The problem of epilepsy and its care in rural Ethiopia.

BACKGROUND: Jimma University Hospital (JUH) in south west Ethiopia has been running an integrated rural chronic disease programme since 1999, focusing on treatment of epilepsy, diabetes and heart disease. OBJECTIVE: The purpose of this review is to compare clinical data of the epilepsy patients with those previously published from a similar programme in Gondar university, in the north west of the country. METHOD: In November 2005, we identified a total of 1,250 patients with epilepsy from the JUH study with case records for analysis. Clinical data are documented in the case records using a structured questionnaire and follow-up chart. We entered the data into SPSS software and performed descriptive analyses. RESULTS: The age of the patients was weighted towards teenage years and young adult life, very similar to that seen in Gondar. The majority of those presenting to the clinic were male (M:F = 1.6:1) and educational level in rural communities was poor. The seizure history was very similar to that observed in Gondar. The average age at onset of unprovoked seizures was 13 years, and only 35% of patients presented within six months of their first seizure. A family history was found in 8% compared with 24% in Gondar. Other risk factors for epilepsy such as previous intracranial infection, head injury and perinatal factors were reported more frequently by patients from Jimma. Status epilepticus was reported by 2.7% in Jimma and 2.0% in Gondar. 10% in both Jimma and Gondar had received burns as a result of seizures. The psychosocial impact of epilepsy was substantial; 24-47% of patients were affected in some way. Default from follow-up was high in both Jimma (40%) and Gondar (62%). CONCLUSION: The JUH data show good general agreement with Gondar university, suggesting that the areas have comparable populations of people with epilepsy. Despite the large number of patients registered at the health centres, there is still a considerable gap between those who suffer from the condition and those who actually get treatment with phenobarbitone. Future work will need to address this shortfall and increase the availability of this inexpensive and effective treatment.

Three soccer playing friends with simultaneous amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis is a neurodegenerative disease of largely unknown cause, predominantly affecting upper and lower motor neurons. A recent study in Italy suggested an increased incidence of ALS among professional Italian soccer players. We report a cluster of three amateur league soccer players who were friends from the same part of southern England, and developed ALS simultaneously. This might suggest that keen amateur soccer players are also at risk.

Unexpected amnesia: are there lessons to be learned from cases of amnesia following unilateral temporal lobe surgery?

Cases of amnesia following unilateral temporal lobe surgery are rare, but they may provide important insights into human brain functioning. Such cases are reconsidered here in the light of recent developments in clinical and cognitive neuroscience. Descriptions of preoperative seizure activity in these cases indicate the potentially valuable role of ictal semiology in localizing the source of epileptiform discharges. Cases of amnesia after unilateral temporal lobectomy illustrate the complexity of intra- and inter-hemispheric propagation of epileptiform discharges and highlight possible neurophysiological mechanisms underlying false localization of abnormal EEG activity. This review points to the value of preoperative neuropsychological assessment in providing information on the likely primary locus of pathology and in predicting outcome after surgery. The analysis of cases upholds the benefits of the Wada procedure, but it highlights the variability in Wada test procedures and the fact that Wada test scores themselves may be open to varying interpretation. These cases of postoperative amnesia are further considered in the context of the cognitive neuroscience of human memory and, in particular, mechanisms underlying the human amnesic syndrome. They confirm the critical role of bilateral medial temporal lobe structures in anterograde memory, but they also highlight the complexity in teasing apart neural mechanisms underlying remote memory loss.