ObjectivePatients with central nervous system germ cell tumours (CNS-GCTs) commonly initially present to primary care or general paediatricians. Prolonged symptom intervals (SI) are frequently seen in CNS-GCTs and have been associated with inferior outcomes in other brain tumours. This study reviewed the clinical presentation of CNS-GCTs and examined the effect of prolonged SI.Design/Setting/Patients/OutcomesInternational multicentre 10-year retrospective study (2002–2011 inclusive), across six international paediatric oncology treatment centres. All newly diagnosed patients with CNS-GCT were included. Main outcome measure was time interval from first symptom to diagnosis.ResultsThe study cohort included 86 (58 males:28 female) patients (59 ‘germinoma’ and 27 ‘non-germinomatous’ GCTs), with tumours being pineal (n=33), suprasellar (n=25), bifocal (pineal+suprasellar; n=24) and ‘other’ site (n=4), of which 16 (19%) were metastatic. Median age at diagnosis was 14 years (0–23 years). The time to diagnosis from first symptom (SI) was 0–69 months (median 3 months, mean 9 months). A prolonged SI (>6 months) was observed in 28/86 patients (33%) and significantly associated with metastatic disease (11/28 (39%) vs 5/58 (9%); p=0.002)) at diagnosis, but not overall survival. With prolonged SI, endocrine symptoms, particularly diabetes insipidus, were more common (21/28 (75%) vs 14/58 (24%) patients; p<0.002), but raised intracranial pressure (RICP) was less frequent (4/28 (14%) vs 43/58 (74%) patients; p<0.001)) at first symptom.ConclusionsOne-third of patients with CNS-GCT have >6 months of symptoms prior to diagnosis. Delayed diagnosis is associated with metastatic disease. Early symptom recognition, particularly related to visual and hormonal disturbances in the absence of RICP, may improve timely diagnosis, reduce metastatic disease frequency and consequently reduce treatment burden and late effects.

BackgroundChronic health conditions in children can have a significant impact on their quality of life. The aim of this study was to explore the subjective experience of children and young people being treated for chronic, non-infectious uveitis associated with a systemic disease such as juvenile idiopathic arthritis.MethodsA semi-structured interview was conducted with 10 children and young people aged between 6 and 18 years of age and their parents.ResultsPreliminary thematic analysis indicated that both the treatment and complications of the disorder have a significant impact on the quality of life and emotional well-being of patients, not only in terms of the discomfort experienced but also in perceptions of social isolation, anxiety and sense of injustice.ConclusionThis study shows that themes including “impact on school”, “social factors” and “emotional reactions” are important domains influencing health-related quality of life (HRQoL) in children with chronic uveitis. Inclusion of questions relating to these domains should be considered in future uveitis-specific tools examining HRQoL in these patients.

Paediatric idiopathic intracranial hypertension (IIH), is a rare but important differential diagnosis in children presenting with papilloedema. It is characterised by raised intracranial pressure in the absence of an identifiable secondary structural or systemic cause and is, therefore, a diagnosis of exclusion. In the adult population, there is a strong predilection for the disease to occur in female patients who are obese. This association is also seen in paediatric patients with IIH but primarily in the post-pubertal cohort. In younger pre-pubertal children, this is not the case, possibly reflecting a different underlying disease aetiology and pathogenesis. Untreated IIH in children can cause significant morbidity from sight loss, chronic headaches, and the psychological effects of ongoing regular hospital monitoring, interventions, and medication. The ultimate goal in the management of paediatric IIH is to protect the optic nerve from papilloedema-induced optic neuropathy and thus preserve vision, whilst reducing the morbidity from other symptoms of IIH, in particular chronic headaches. In this review, we will outline the typical work-up and diagnostic process for paediatric patients with suspected IIH and how we manage these patients.

No abstract

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome dominated by deterioration of higher visual function (particularly visuospatial and visuoperceptual abilities). It is most commonly due to Alzheimer's disease pathology, but may also be caused by dementia with Lewy bodies, corticobasal degeneration or Creutzfeldt-Jakob disease. Patients often present to optometrists, ophthalmologists and/or neurologists with non-specific visual complaints, and unless clinicians seek the specific symptoms and signs of PCA (beyond that of the 'standard' neurological examination), this infrequent disorder is easily missed, delaying its diagnosis and treatment. We review the clinical features of PCA, focusing on its visual manifestations, to help neurologists recognise this important syndrome.