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Objectives The indications for surgery and outcomes of patients who underwent surgical removal of subependymal giant cell astrocytomas (SEGAs) in our institution between 2000 and 2011 were reviewed. Methods We reviewed the clinical details of 16 patients with a diagnosis of Tuberous Sclerosis Complex (TSC) who underwent surgery for SEGA in Bristol since 2000. We collected information on age, sex, epilepsy history and cognitive status. We reviewed the indications for surgery, age at surgery, surgical approach, and the size and location of the lesions. We analysed mortality, completeness of tumour resection, intraoperative blood transfusion, shunt placements, and surgical complications. Results 13 patients had surgery due to hydrocephalus. Increasing size of SEGA without hydrocephalus was an indication for surgery in two patients, and in one patient, the SEGA was removed because of its size and location at initial scan. 13 patients had complete tumour resection. One patient had tumour recurrence. Hydrocephalus failed to resolve or reoccurred in four patients post operatively necessitating shunt insertion. The surgical approach was transcortical in 14 patients and transcallosal in two. There was zero mortality in this series. There were no reports of cognitive decline or worsening epilepsy following surgery. Conclusion Surgery is a safe and effective treatment for SEGA. It is the authors' view that surgery remains the most appropriate treatment strategy for SEGAs that are amenable to surgery. More work needs to be undertaken to assess prospectively the neurocognitive impact of surgery, and the relative advantages of different surgical approaches.

Studying infantile spasms is challenging because there are so many aspects of variation that introduce potential bias. These might relate to the many underlying etiologies, and variations in clinical semiology and electroencephalographic features that relate more to age or timing of investigation than to the underlying epilepsy or seizures type. New gene defects associated with the CDKL5/STK9 and ARX genes are associated with infantile spasms, but these illustrate that, when studying neurodevelopmental outcomes, it is necessary to deal also with heterogeneity at the level of genotype–phenotype correlation. We discuss these design issues with consideration of data from the United Kingdom infantile spasms study (UKISS) – in which neurodevelopmental outcomes show evidence of an interaction between underlying etiologic classification and randomised treatment – and with consideration to proposals on study design from the recent consensus statement of the West Delphi group. In the continual debate about whether we should “lump” or “split” when studying epilepsy syndromes, we propose the adoption of study designs using valid and consistent methods that permit both lumping and splitting.

About 60 children are born each year in the UK with tuberous sclerosis. Half will present with infantile spasms while one-quarter will have neither epilepsy nor learning difficulties. Management of epilepsy in the pre-school child is difficult but necessary as better control is associated with an improved outcome. Regular cranial scans are not necessary but investigating symptoms of raised intracranial pressure is urgent. Behavioural problems are common and include autism, hyperactivity, sleep disorder and deliberate self-harm. Renal disease, usually due to angiomyolipomas (AML), is common but symptoms of bleeding are not. If frank haematuria occurs, preserve the kidney if at all possible. DNA analysis of the two genes is difficult and is not suitable for exclusion of the disease in a sporadic case. The protein products control cell growth and this pathway may soon prove amenable to control with medications.

Tuberous sclerosis (TSC) is an inherited disorder best known for its association with severe learning difficulties, epilepsy, behavioural problems, skin and renal pathology. Lymphangioleiomyomatosis (LAM), characterized by alveolar smooth muscle proliferation and cystic destruction of parenchyma, occurs as an infrequent symptomatic pulmonary complication in TSC and as a very rare sporadic disease in those without signs of TSC. Considered a generalized and progressive cystic lung disease that is difficult to treat with a poor prognosis, it has been reported almost exclusively in women, most commonly presenting with dyspnoea and pneumothorax in those of childbearing age. We investigated the clinical features and prognosis of LAM in patients with TSC including the effects of treatment, stratified by the method of diagnosis of LAM (i.e. histological or radiological). We found histological proof of diagnosis in 10 of 21 patients with TSC and symptomatic lung disease, onset in childhood in four, three males with LAM, individuals with apparently focal disease, great variation in clinical course and no clear treatment benefit. In those with TSC, symptomatic LAM is infrequent but causes a significant morbidity and mortality. It was not possible to detect predisposing factors, other than being female. Males with apparent LAM should be rigorously investigated.

This paper argues for a standardized use of definitions and outcome measures in publications on West syndrome. Specific recommendations include the need for a validated definition of hypsarrhythmia, the use of the term non-symptomatic and abandoning the terms cryptogenic and idiopathic, talking about underlying disease association and not aetiology or cause and defining a clinical response to mean that no clinical evidence of a spasm has been seen for a specified time – 48 h was suggested. Patients should be followed up to report development – perhaps at 12–15 months and again at 2 and 5 years. Disease free survival should be reported. Side effects need to be seen as adverse events producing risk modification. Outcomes should be blind whenever possible. A consensus group will take these and other suggestions forward – please contact mailto:mpsjpo@bath.ac.uk if you are interested in taking part.

The child with acutely tender joints is a relatively common problem. However the wide spectrum of possible diagnoses includes a number of diseases which are uncommon. With care and attention to detail the history may be the most revealing guide to a diagnosis concealed by examination alone. The examination is nevertheless of irreplaceable importance in assessing the child and, usually, only a few investigations are required. In the acute situation it is often not possible to make the definitive diagnosis which may only become apparent with the passage of time. Juvenile chronic arthritis (JCA) may be suspected but should only be diagnosed when symptoms have persisted for a minimum of 3 months, even though viral arthritis can last longer than this. In some cases of transient arthritis no particular cause is ever identified and it is better to leave the patient without a diagnostic label rather than prejudice future events. Table 1 shows the frequency of diagnoses of children under 16 years of age presenting to 3 paediatric centres in Helsinki with possible arthritis. They were referred from primary care physicians over an 18 month period. Acute painful joints will not all be thought of as possible arthritis hence the low incidence of septic arthritis and the absence of osteomylitis and trauma. In this report we have focused on the assessment of a child presenting with acute tender joints. While it is tempting to assess the child with a single tender joint separately from the child with multiple joint involvement, the latter often start with single joint involvement and this possibility must be considered. The most urgent aspect of assessing a child with single joint involvement is to consider a septic arthritis because delayed treatment increases the fre

Objective To examine the relative efficacy of prednisolone and tetracosactide depot in the treatment of infantile spasms using data from trials where treatment had been randomly allocated. Prednisone trials (against ACTH) were not included since prednisone is an inactive compound that infants poorly convert to the active compound, Prednisolone. Methods A meta-analysis of results from both UKISS and ICISS clinical trials. Both trials compared hormonal treatment alone (either Prednisolone or Tetracosactide Depot) to another treatment regime but had randomly allocated the hormonal treatment in all (UKISS) or some (ICISS) infants. Both trials used the same dosages: Prednisolone 10 mg qds increasing to 20 mg tds after 7 days if spasms continued or Tetracosactide depot 0.5 mg on alternate days increasing to 0.75 mg after 7 days if spasms continued. Cessation of spasms was defined as in UKISS: no visible spasms on Days 13 and 14. This outcome was also available for infants in ICISS where a more stringent definition was used. Results 124 infants (53 in UKISS and 71 in ICISS) were randomly allocated either Prednisolone (64) or Tetracosactide depot (60). Results for all infants are available. Cessation of spasms was achieved in 43 (67%) of those allocated Prednisolone and in 45 (75%) of those allocated Tetracosactide depot. There is no significant difference between these outcomes (Treatment difference 7.8%, 95% CI: –8.7% to +24.3%; Chi-square 0.92 and p=0.34). Conclusion When these two treatments are used as initial single treatments and where cessation of spasms is the outcome measure, there is no evidence that one treatment is better than the other.

Before agreeing to be put forward as a candidate for the post of regional advisor in paediatrics (RAP) to the Royal College of Physicians of London (RCP) and the British Paediatric Association (BPA) for the old Wessex regional health authority area, I tried to discover what the job would entail and how much time it would take. This paper should answer the question, but I was quite unprepared for the unbelievable change that was to come, due to government reforms and to the complementary revolution in postgraduate medical education. Adaptability is now an essential requirement for the RAP, but an interest in medical education and training is the essence of the post (see Tables 1 & 2). Regional advisers (RA) to the RCP were first created in 1969, but RAPs were first appointed in 1988 as part of the response of the RCP to the need to better represent Paediatric Physicians in England, Wales and Northern Ireland. Scotland has its own system of representation based on the two Scottish

Linkage analysis was undertaken in nineteen families with tuberous sclerosis by use of 26 polymorphic markers. All affected members fulfilled strict diagnostic criteria and unaffected members were rigorously investigated to confirm their status. Maximum lod scores were 1.20 for adenylate kinase 1 (AK1) at zero recombination and 3.85 for the ABO blood group at zero recombination (confidence limits 0-0.10). These findings support the assignment of the gene for tuberous sclerosis to the distal long arm of chromosome 9.