Paediatric Idiopathic Intracranial Hypertension (IIH)-A Review.

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

Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia

We describe two sisters who presented in early childhood with motor delay and unusual eye movements. Both demonstrated hypotonia and poor visual attention. The older girl at 14 weeks of age showed fine pendular horizontal nystagmus more pronounced on lateral gaze, but despite investigation with cranial MRI no diagnosis was reached. The birth of her younger sister four years later with a similar presentation triggered review of the sisters' visual behaviour. Each had developed an unusual but similar form of oculomotor apraxia (OMA) with head thrusts to maintain fixation rather than to change fixation. MRI of the older sibling demonstrated the characteristic “molar tooth sign” (MTS) of Joubert syndrome which was subsequently confirmed on MRI in the younger sibling. We discuss the genetically heterogeneous ciliopathies now grouped as Joubert syndrome and Related Disorders. Clinicians need to consider this group of disorders when faced with unusual eye movements in the developmentally delayed child

An infant with ETV6-NTRK3 fusion-positive congenital infantile fibrosarcoma and delayed response to conventional chemotherapy avoiding the need for TRK inhibition.

We present an infant with ETV6-NTRK3 fusion-positive congenital-infantile-fibrosarcoma (CIFS) and very delayed response to conventional chemotherapy, avoiding TRK-inhibition. Although CIFS is rare, it represents one of the commonest non-rhabdomyosarcoma soft-tissue-sarcomas in infancy and whilst potentially highly-aggressive locally, they infrequently metastasize (1-13%) and carry favorable overall-survival[1]. Hallmark ETV6-NTRK fusions are present in 87% of CIFS[1], as well as in congenital-mesoblastic-nephroma[2] and leukemia[3]. The European-pediatric-Soft-tissue-sarcoma-Study-Group (EpSSG) developed therapeutic recommendations for CIFS according to resectability at initial presentation[1]. Complete macroscopic resection is first-line treatment and where not possible, systemic treatment with Vincristine/Actinomycin (VA) chemotherapy is standard[1,4], with good rates of response using RECIST criteria[5] and survival[1]. Interestingly, spontaneous regression of CIFS has also been reported[6,7], possibly related to the high apoptotic and low proliferative index in infantile tumors[8]

Correlation between the total number of features of paediatric pseudotumor cerebri syndrome and cerebrospinal fluid pressure

Abstract Purpose Accurate diagnosis of Pseudotumor Cerebri Syndrome (PTCS) in children is challenging. We aimed to see if the clinical and radiological assessment that is carried out before lumbar puncture could predict subsequently recorded CSF pressures, and thus whether it could be used to increase diagnostic certainty of paediatric PTCS. Methods We used internationally recognised diagnostic criteria to derive a list of clinical, brain neuroimaging and venography features that were accepted to be associated with a diagnosis of PTCS. We performed a retrospective cohort study of children referred to our centre with suspected PTCS, identifying the presence or absence of those features for each child at initial presentation. The sum total scores of the features that were present were correlated with the child’s recorded CSF pressure. Results The sum total scores were significantly positively correlated with recorded CSF pressures. The positive correlation was seen when clinical and brain neuroimaging features were included alone, and the correlation was slightly stronger when venography features were included in addition. Conclusion Calculating the sum total of clinical, brain neuroimaging and venography features (where venography is performed) present at initial presentation can help in the management of children under investigation for PTCS. Children with high scores are more likely to have severely raised CSF pressures and thus may warrant more urgent LP investigations. By contrast, in children with subtle abnormalities in optic disc appearance such that disc oedema cannot be ruled out, a low score may add further reassurance and less urgency to proceed to LP.ni

Ventriculo-peritoneal shunting is a safe and effective treatment for idiopathic intracranial hypertension.

PURPOSE: To determine the outcome of ventriculo-peritoneal shunts as a treatment for idiopathic intracranial hypertension (IIH) Materials and Methods: Retrospective case series of 28 patients with IIH and evidence of raised intracranial pressure (ICP) who underwent shunt insertion. Patients were identified from a prospectively updated operative database. A case-notes review was performed and data on type of shunt, pre- and post-operative symptoms, ophthalmological findings and post-operative complications were recorded. RESULTS: All patients had symptoms of IIH that had failed medical management. Twelve patients had previous lumbo-peritoneal shunts and 2 patients had previous venous sinus stents. All patients had evidence of raised ICP as papilloedema and raised CSF pressure on lumbar puncture. Twenty-seven patients received a ventriculo-peritoneal shunt and 1 patient a ventriculo-atrial shunt. Twenty-six patients received Orbis Sigma Valves and 2 patients Strata valves. At follow-up all patients (100%) had improvement/resolution of papilloedema, 93% had improved visual acuity and 84% had improved headaches. Mean time to last follow-up was 15 (range 4-96) months. Complications occurred in 3 patients (11%): 2 patients required revision of their peritoneal catheters and 1 patient had an anti-siphon device inserted. CONCLUSIONS: Previous literature reported a ventricular shunt revision rate of 22-42% in the management of IIH. We demonstrate ventriculo-peritoneal shunts to be an effective treatment with a revision rate of 11% compared to the previously reported 22-42%

Symptom interval and treatment burden for patients with malignant central nervous system germ cell tumours.

OBJECTIVE: Patients 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/OUTCOMES: International 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. RESULTS: The 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; p6 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.Non