Management of toxic epidermal necrolysis in a 15-year-old girl.

Toxic epidermal necrolysis, a life-threatening reaction to certain types of drugs, is characterised by epidermal sloughing of more than 30% of the total body surface area. Patient survival depends on prompt referral to a specialist burns unit.

Lamotrigine therapy in infantile neuronal ceroid lipofuscinosis (INCL).

Since 1990, altogether 16 INCL patients received lamotrigine (LTG) because of intractable epilepsy. The response to LTG was favorable in 15/16 children. The severity of seizures decreased significantly in 15/16 patients, the frequency of seizures decreased in 14/16, and the effects were maintained. In addition, LTG had a beneficial effect on the well-being of 14/16 children. LTG failed to maintain it's efficacy in monotherapy. No severe side effects were found.

Lamotrigine for the treatment of epilepsy in childhood.

OBJECTIVE: In this multicenter study, the efficacy and tolerability of lamotrigine were assessed in 285 children less than 13 years of age, recruited from 37 centers in 11 countries. METHODS: Pooled data from five open add-on studies have been analyzed. All the children had treatment-resistant epilepsy and most had two or more seizure types. Seizure frequency and global evaluation were assessed at the end of four successive 12-week periods of therapy. RESULTS: Seizure frequency was reduced by 50% or more in one third of the patients. Lamotrigine was effective in all seizure types examined, particularly for typical and atypical absence seizures. Atonic seizures also responded well. Improvement was well maintained during the treatment period. The maintenance dose had to be adjusted according to concomitant medication; dose ranges were 1 to 5 mg/kg per day for children taking valproate and 5 to 15 mg/kg per day for those not taking valproate. The commonest reported adverse experiences were somnolence, rash, vomiting, and seizure exacerbations. Adverse experiences led to withdrawal of treatment from 36 patients (12.6%). CONCLUSIONS: These results indicate that lamotrigine is well tolerated and is effective for a broad range of seizure types, especially absence seizures and atonic seizures.

A multicentre comparative trial of sodium valproate and carbamazepine in paediatric epilepsy. The Paediatric EPITEG Collaborative Group.

The long-term efficacy and adverse-event profiles of sodium valproate and carbamazepine in children with newly diagnosed primary generalised or partial epilepsy were compared at 63 outpatient clinics. Children with two or more generalised tonic-clonic or partial seizures in the previous six months were randomised to oral sodium valproate (N = 130) or oral carbamazepine (N = 130) and followed for three years as outpatients. Dosages were increased as needed until seizures were controlled or toxicity developed. Sodium valproate and carbamazepine were equally effective in achieving high levels of seizure control in both primary generalised seizures and partial seizures with or without generalisation. Adverse events were mostly mild, few necessitating drug withdrawal. Those particularly associated with valproate were weight increase, alopecia and appetite increase, and with carbamazepine, rashes, somnolence, diplopia and abnormal gait/ataxia.

Juvenile neuronal ceroid-lipofuscinosis: developmental progress after supplementation with polyunsaturated fatty acids.

Six patients with juvenile neuronal ceroid-lipofuscinosis (NCL) who were demonstrated to have abnormally low levels of membrane phospholipids were treated by dietary supplementation with polyunsaturated fatty acids (PUFAs) for periods ranging from 4 years 10 months to 7 years 3 months. Annual evaluations of intelligence and fine motor ability were undertaken while on supplementation. Mental development remained stable in most subjects throughout this period; fine motor function and vision were stable in the two youngest subjects only. These data suggest that PUFA supplementation may arrest the natural course of juvenile NCL if treatment is started early. A larger, multicenter, controlled trial is warranted.

Decreased erythrocyte and platelet phospholipids and fatty acids in juvenile neuronal ceroid-lipofuscinosis (Batten disease).

Total cellular and phospholipid fatty acids were analyzed in erythrocytes and platelets from six patients with juvenile neuronal ceroid-lipofuscinosis (Spielmeyer-Vogt, Batten disease, JNCL). The results were compared to those of age-matched controls. The amounts of total fatty acid and the phospholipid classes, phosphatidylcholine (PC), phosphatidylethanolamine (PE), and phosphatidylserine (PS) were significantly decreased in patients when related to cellular protein. The reductions in total fatty acids were 27% in erythrocytes and 50% in platelets. Erythrocyte PC reduction was 36%, PE was 44% and PS 27%. There were no major qualitative differences in the phospholipid fatty acids, suggesting that the fatty acid composition of the reduced phospholipid was normal, and that there is a generalized phospholipid deficiency in these cells in JNCL. This was not related to nutritional status. The pathogenesis of Batten disease may be related to abnormal membrane function resulting from this marked phospholipid deficiency.

Epilepsy in school children with intellectual impairments in Sheffield: the size and nature of the problem and the implications for service provision.

This study analyses the prevalence and nature of epilepsy in all children between the ages of 5 and 16 years of age in the City of Sheffield with mild, moderate or severe intellectual impairments. An overall figure of 18% was obtained with a range of 7% for those with mild to moderate intellectual impairments to 67% for those with severe intellectual impairments and a physical disability. The severity of the epilepsy similarly varied with the most severe being in those with severe intellectual impairments and physical disabilities.

Radiological screening for atlanto-axial instability in Down's syndrome.

Two hundred and twenty Down's sufferers of all ages in the Sheffield district had their cervical spine X-rayed as part of a screening programme to ascertain atlanto-axial instability. Fifteen patients (6.8%) had an abnormal predental distance with four (1.8%) showing atlanto-axial subluxation. Seventy per cent of abnormal findings were in the under-25 age group. Only one child had clinical manifestations. Patients under the age of 25 years are most likely to participate in sports and are thought to be the age group most at risk. Degenerative changes in the cervical spine were found at an early age in patients with Down's syndrome, and there is both an increased incidence and severity of degenerative change at higher levels with increasing age.

Molybdenum co-factor deficiency: an easily missed inborn error of metabolism.

A female patient is described with combined deficiency of sulphite, zanthine and aldehyde oxidase. She presented at the age of four weeks with intractable seizures. Initially the diagnosis was suspected because of a very low serum urate level (23 mumol/1-1). This condition can be easily missed and it is proposed that measurement of serum urate be included in the metabolic assessment of neonates with unexplained seizures and developmental delay.

Cerebral systemic lupus erythematosus.

Cerebral systemic lupus erythematosus is uncommon in childhood. Three further cases are presented to draw attention to the unusual and varied clinical manifestations of this condition.

Therapeutic modification of membrane lipid abnormalities in juvenile neuronal ceroid-lipofuscinosis (Batten disease).

Five patients with juvenile neuronal ceroid-lipofuscinosis, who were shown to have absent or reduced serum prebetalipoprotein and a deficiency of polyunsaturated fatty acids in erythrocyte membrane lipids, were treated for a period of one year with supplements of fish oil extract (rich in omega-3 fatty acids) and encouraged to increase dietary intake of corn oil lipid (rich in omega-6 fatty acids) in an attempt to promote incorporation of these fatty acids into membranes. After one year there was a significant increase in omega-3 fatty acids (P less than 0.05) and in the total polyunsaturated fatty acids (P less than 0.02) in erythrocyte membranes but no change in the incorporation of omega-6 fatty acids. The patients were assessed clinically, psychometrically and neurophysiologically before and after the supplementation. No significant changes were noted after one year of treatment.

Causes of delay in the adequate treatment of childhood illness in India.

A retrospective study of children attending a government hospital in Bangalore was performed to assess the causes of delay in providing appropriate treatment. Delay had occurred in 59% of children with significant illness, and in over half the cases the primary cause of delay was inappropriate treatment or delayed referral by a doctor trained in Western-style medicine. It is concluded that there are a large number of ill children in Bangalore whose parents are seeking the help of such doctors but where management is at fault.