RESUMEN
BACKGROUND: Idiopathic intracranial hypertension (IIH) is a potentially disabling condition. There is a lack of evidence and national guidance on how to diagnose and treat paediatric IIH, leading to variation in clinical practice. We conducted a national Delphi consensus via the Children's Headache Network to propose a best-practice diagnostic and therapeutic pathway. METHODS: The Delphi process was selected as the most appropriate methodology for examining current opinion among experts in the UK. 104 questions were considered by 66 healthcare professionals, addressing important aspects of IIH care: assessment, diagnosis, treatment, follow-up and surveillance. General paediatricians, paediatric neurologists, ophthalmologists, opticians, neuroradiologists and neurosurgeons with a clinical interest or experience in IIH, were invited to take part. RESULTS: The Delphi process consisted of three rounds comprising 104 questions (round 1, 67; round 2, 24; round 3 (ophthalmological), 13) and was completed between March 2019 and August 2021. There were 54 and 65 responders in the first and second rounds, respectively. The Delphi was endorsed by the Royal College of Ophthalmologists, which engaged 59 ophthalmologists for round 3. CONCLUSIONS: This UK-based Delphi consensus process reached agreement for the management of paediatric IIH and has been endorsed by the Children's Headache Network and more broadly, the British Paediatric Neurology Association. It provides a basis for a pragmatic clinical approach. The recommendations will help to improve clinical care while minimising under and over diagnosis.
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Consenso , Técnica Delphi , Seudotumor Cerebral , Humanos , Niño , Seudotumor Cerebral/diagnóstico , Seudotumor Cerebral/terapia , Seudotumor Cerebral/complicaciones , Adolescente , Reino Unido , Guías de Práctica Clínica como AsuntoRESUMEN
OBJECTIVE: FFA is a well-established investigation for the diagnosis of optic nerve abnormalities, requiring an intravenous cannula and extended imaging acquisition time. Cannulation can present a challenge in paediatric patients and whilst oral FFA has been used for decades, it has been limited by imaging technology and unconfirmed image acquisition timings. For years, we have used a modern ultra-widefield retinal camera, and established imaging time-points to demonstrate dynamic optic nerve head changes upon ingestion of fluorescein and collected a database of oFFA images for various presentations. METHODS: Using an established protocol, optic nerve colour images were obtained, followed by oral administration of fluorescein dye. The optic nerves are then imaged at established intervals. An interpretation of oFFA tutorial was delivered to consultant ophthalmologists and trainees. Subsequently, these groups were assessed using a series of fifteen cases with the sensitivity and specificity of the test determined. RESULTS: Our study presents a series of images and descriptions for common optic nerve abnormalities in paediatric populations. In the interpretation part of the study, overall sensitivity of 76.8% in the consultant group vs 63.3% in the combined consultant + trainees and specificity of 87.5% vs 68.4% in the combined group. CONCLUSIONS: This is the first study that describes characteristic features of several common, and serious, optic nerve abnormalities specifically for oFFA interpretation in a paediatric population. It also highlights the rapid accumulation of oFFA interpretation skills in non-specialist consultant and trainee ophthalmologists such as to obtain a high diagnostic accuracy with high sensitivity and specificity.
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Angiografía con Fluoresceína , Enfermedades del Nervio Óptico , Humanos , Niño , Angiografía con Fluoresceína/métodos , Masculino , Femenino , Preescolar , Enfermedades del Nervio Óptico/diagnóstico , Enfermedades del Nervio Óptico/diagnóstico por imagen , Fluoresceína/administración & dosificación , Administración Oral , Adolescente , Lactante , Disco Óptico/diagnóstico por imagen , Sensibilidad y Especificidad , Colorantes Fluorescentes/administración & dosificación , Nervio Óptico/diagnóstico por imagen , Nervio Óptico/anomalíasRESUMEN
INTRODUCTION: Depending on severity of presentation, pituitary apoplexy can be managed with acute surgery or non-operatively. We aim to assess long-term tumour control, visual and endocrinological outcomes following pituitary apoplexy with special emphasis on patients treated non-operatively. METHODS: Multicentre retrospective cohort study. All patients with symptomatic pituitary apoplexy were included. Patients were divided into 3 groups: group 1: surgery within 7 days; group 2: surgery 7 days-3 months; group 3: non-operative. Further intervention for oncological reasons during follow-up was the primary outcome. Secondary outcome measures included visual and endocrinological function at last follow-up. RESULTS: One hundred sixty patients were identified with mean follow-up of 48 months (n = 61 group 1; n = 34 group 2; n = 64 group 3). Factors influencing decision for surgical treatment included visual acuity loss (OR: 2.50; 95% CI: 1.02-6.10), oculomotor nerve palsy (OR: 2.80; 95% CI: 1.08-7.25) and compression of chiasm on imaging (OR: 9.50; 95% CI: 2.06-43.73). Treatment for tumour progression/recurrence was required in 17%, 37% and 24% in groups 1, 2 and 3, respectively (p = 0.07). Urgent surgery (OR: 0.16; 95% CI: 0.04-0.59) and tumour regression on follow-up (OR: 0.04; 95% CI: 0.04-0.36) were independently associated with long-term tumour control. Visual and endocrinological outcomes were comparable between groups. CONCLUSION: Urgent surgery is an independent predictor of long-term tumour control following pituitary apoplexy. However, 76% of patients who successfully complete 3 months of non-operative treatment may not require any intervention in the long term.
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Apoplejia Hipofisaria , Neoplasias Hipofisarias , Accidente Cerebrovascular , Humanos , Apoplejia Hipofisaria/diagnóstico por imagen , Apoplejia Hipofisaria/cirugía , Neoplasias Hipofisarias/complicaciones , Neoplasias Hipofisarias/diagnóstico por imagen , Neoplasias Hipofisarias/cirugía , Estudios Retrospectivos , Accidente Cerebrovascular/complicaciones , Resultado del TratamientoRESUMEN
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.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Fibrosarcoma/tratamiento farmacológico , Proteínas de Fusión Oncogénica/genética , Ciclofosfamida/administración & dosificación , Dactinomicina/administración & dosificación , Fibrosarcoma/genética , Fibrosarcoma/patología , Humanos , Lactante , Pronóstico , Inhibidores de Proteínas Quinasas/uso terapéutico , Vincristina/administración & dosificaciónRESUMEN
PURPOSE: Accurate diagnosis of pseudotumour 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.
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Seudotumor Cerebral , Presión del Líquido Cefalorraquídeo , Niño , Humanos , Neuroimagen , Seudotumor Cerebral/diagnóstico por imagen , Estudios Retrospectivos , Punción EspinalRESUMEN
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; 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. CONCLUSIONS: One-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.
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Neoplasias Encefálicas/terapia , Costo de Enfermedad , Neoplasias de Células Germinales y Embrionarias/terapia , Adolescente , Neoplasias Encefálicas/diagnóstico , Neoplasias Encefálicas/secundario , Niño , Preescolar , Detección Precoz del Cáncer , Humanos , Lactante , Recién Nacido , Neoplasias de Células Germinales y Embrionarias/diagnóstico , Neoplasias de Células Germinales y Embrionarias/secundario , Estudios Retrospectivos , Tiempo de Tratamiento , Resultado del TratamientoRESUMEN
OBJECTIVES: To assess the performance of feed-forward back-propagation artificial neural networks (ANNs) in detecting field defects caused by pituitary disease from among a glaucomatous population. METHODS: 24-2 Humphrey Visual Field reports were gathered from 121 pituitary patients and 907 glaucomatous patients. Optical character recognition was used to extract the threshold values from PDF reports. Left and right eye visual fields were coupled for each patient in an array to create bilateral field representations. ANNs were created to detect chiasmal field defects. We also assessed the ability of ANNs to identify a single pituitary field among 907 glaucomatous distractors. RESULTS: Mean field thresholds across all locations were lower for pituitary patients (20.3 dB, SD = 5.2 dB) than for glaucoma patients (24.4 dB, SD = 5.0 dB) indicating a greater degree of field loss (p < 0.0001) in the pituitary group. However, substantial overlap between the groups meant that mean bilateral field loss was not a reliable indicator of aetiology. Representative ANNs showed good performance in the discrimination task with sensitivity and specificity routinely above 95%. Where a single pituitary field was hidden among 907 glaucomatous fields, it had one of the five highest indexes of suspicion on 91% of 2420 ANNs. CONCLUSIONS: Traditional artificial neural networks perform well at detecting chiasmal field defects among a glaucoma cohort by inspecting bilateral field representations. Increasing automation of care means we will need robust methods of automatically diagnosing and managing disease. This work shows that machine learning can perform a useful role in diagnostic oversight in highly automated glaucoma clinics, enhancing patient safety.
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Glaucoma/diagnóstico , Aprendizaje Automático , Redes Neurales de la Computación , Pruebas del Campo Visual/métodos , Campos Visuales/fisiología , Estudios de Factibilidad , Glaucoma/fisiopatología , HumanosRESUMEN
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%.
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Seudotumor Cerebral/cirugía , Derivación Ventriculoperitoneal/estadística & datos numéricos , Adolescente , Adulto , Niño , Bases de Datos Factuales , Femenino , Trastornos de Cefalalgia/fisiopatología , Trastornos de Cefalalgia/cirugía , Humanos , Masculino , Persona de Mediana Edad , Cuidados Posoperatorios , Complicaciones Posoperatorias/etiología , Seudotumor Cerebral/fisiopatología , Reoperación/estadística & datos numéricos , Estudios Retrospectivos , Punción Espinal/normas , Punción Espinal/estadística & datos numéricos , Resultado del Tratamiento , Derivación Ventriculoperitoneal/normas , Trastornos de la Visión/fisiopatología , Trastornos de la Visión/cirugía , Agudeza Visual/fisiología , Adulto JovenRESUMEN
BACKGROUND: Chronic 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. METHODS: A semi-structured interview was conducted with 10 children and young people aged between 6 and 18 years of age and their parents. RESULTS: Preliminary 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. CONCLUSION: This 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.
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Artritis Juvenil/complicaciones , Pacientes/psicología , Calidad de Vida/psicología , Uveítis/psicología , Adolescente , Artritis Juvenil/psicología , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Padres/psicología , Medición de Resultados Informados por el Paciente , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Uveítis/etiologíaRESUMEN
Isolated oculomotor nerve palsy following head injury is uncommon. It can only be diagnosed with confidence if it is known to have developed immediately following trauma and if adequate investigations exclude secondary causes. The recovery is only partial and this has repercussion on patients' quality of life.
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Traumatismos Craneocerebrales/complicaciones , Enfermedades del Nervio Oculomotor/etiología , Adulto , Blefaroptosis/etiología , Blefaroptosis/terapia , Angiografía Cerebral , Traumatismos Craneocerebrales/diagnóstico por imagen , Traumatismos Craneocerebrales/terapia , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedades del Nervio Oculomotor/diagnóstico por imagen , Enfermedades del Nervio Oculomotor/terapia , Reflejo Pupilar , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
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.
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Enfermedad de Alzheimer/diagnóstico , Encefalopatías/diagnóstico , Corteza Cerebral/patología , Enfermedad de Alzheimer/psicología , Atrofia , Encefalopatías/patología , Diagnóstico Tardío , Femenino , Humanos , Persona de Mediana EdadRESUMEN
BACKGROUND: In our experience, children with Down syndrome were noncompliant with spectacle wear, often attributed to their inability to appreciate benefit from the glasses. Studies show that up to 80% of children with Down syndrome have reduced accommodation. The purpose of this study was to evaluate whether the use of bifocals increased compliance with spectacle wear. METHODS: A retrospective review of medical records from 1983 to 2007 identified 86 children with Down syndrome who were prescribed either bifocal or single vision spectacles. Compliance with spectacle wear was assessed by telephone and was available for 57 children: 27 with bifocals and 30 with single-vision spectacles. Accommodative ability had been assessed by dynamic retinoscopy in 39 of these children. RESULTS: In the 27 bifocal children, all had poor accommodation on dynamic retinoscopy. Of these 27 children, 24 were compliant with spectacle wear (89%), whereas only 15 of the 30 single-vision spectacle children were compliant (50%). Of the 30 single-vision spectacle children, 18 had not had dynamic retinoscopy, and accommodative ability was thus unknown. Of the 12 who had undergone dynamic retinoscopy, 5 showed poor accommodation. The remaining 7 had good accommodation but showed compliance of only 43% in wearing single-vision glasses. The association between type of spectacle prescribed and compliance with wear was statistically significant by χ(2) testing (P = 0.002). CONCLUSIONS: In our study cohort, the addition of bifocal segments improved compliance with spectacle wear in children with Down syndrome.
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Síndrome de Down/complicaciones , Anteojos/estadística & datos numéricos , Cooperación del Paciente/estadística & datos numéricos , Errores de Refracción/terapia , Acomodación Ocular , Adolescente , Niño , Preescolar , Humanos , Lactante , Refracción Ocular/fisiología , Retinoscopía , Estudios Retrospectivos , Agudeza Visual/fisiologíaRESUMEN
PURPOSE: To determine the sensitivity of the Bielschowsky head-tilt test and other commonly used criteria in identifying patients with true bilateral superior oblique paresis. DESIGN: A retrospective chart review was performed to identify patients seen between 1978 and 2009 who were diagnosed with acquired bilateral superior oblique paresis. METHODS: All patients had a confirmed history of head trauma or brain surgery with altered consciousness followed by symptomatic diplopia. Bilateral superior oblique paresis was defined and diagnosed by the above history, including the presence of greater extorsion in downgaze than upgaze on Lancaster red-green testing, a V-pattern strabismus, and bilateral fundus extorsion. We analyzed findings of the Bielschowsky head-tilt test, the Parks 3-step test, and reversal of the hypertropia from straight-ahead gaze to the other 8 diagnostic positions of gaze to determine these tests' sensitivity in identifying true bilateral superior oblique paresis. RESULTS: Twenty-five patients were identified with the diagnosis of true bilateral superior oblique paresis. The Bielschowsky head-tilt test had a 40% sensitivity, the Parks 3-step test had a sensitivity of 24%, and reversal of the hypertropia had a sensitivity of 60% in making the diagnosis of true bilateral superior oblique paresis. CONCLUSIONS: What previously has been described as masked bilateral superior oblique paresis simply may be a reflection of inherent poor sensitivity of the Bielschowsky head-tilt test, the Parks 3-step test, and reversal of the hypertropia in diagnosing bilateral superior oblique paresis. Hence, none of these tests should be relied on exclusively to make this diagnosis.
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Técnicas de Diagnóstico Oftalmológico , Diplopía/diagnóstico , Músculos Oculomotores/patología , Estrabismo/diagnóstico , Enfermedades del Nervio Troclear/diagnóstico , Adulto , Técnicas de Diagnóstico Oftalmológico/normas , Femenino , Traumatismos Cerrados de la Cabeza/complicaciones , Humanos , Masculino , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad , Visión BinocularRESUMEN
PURPOSE: To determine whether patients historically diagnosed with bilateral superior oblique paresis (BSOP) categorized into (1) immediate-onset and (2) gradual-onset torsional diplopia groups are also distinguishable on the basis of patterns of subjective misalignment in various directions of gaze, consistent with the gradual-onset group being caused by sensory extorsion rather than by BSOP. METHODS: The medical records of all patients diagnosed with BSOP, V-pattern esotropia, or V-pattern exotropia between 1978 and 2009 were retrospectively reviewed. Those patients with torsional diplopia were classified into immediate- or gradual-onset diplopia groups. The torsional misalignments measured by Lancaster red-green plots were compared, and the surgical outcomes were evaluated. RESULTS: Of 38 patients identified, 27 had immediate-onset and 11 gradual-onset diplopia. There was a statistically significant difference in the increase in extorsion from up- to downgaze between the immediate- versus gradual-onset group (17.8° versus -1.5°, P < 0.001). Patients in the immediate-onset group fared significantly better with bilateral Harada-Ito procedures than with bilateral inferior oblique-weakening procedures (P = 0.02), whereas patients in the gradual-onset group fared equally well with either procedure (P = 0.72). CONCLUSIONS: Extorsion in upgaze is largely absent in patients with immediate-onset BSOP but is present in both up- and downgaze in patients with gradual-onset sensory extorsion. Lancaster red-green testing aids in distinguishing these two groups. The bilateral Harada-Ito procedure is a better procedure for true BSOP, whereas a bilateral inferior oblique-weakening procedure may be preferred for patients with sensory extorsion.
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Diplopía/diagnóstico , Oftalmoplejía/diagnóstico , Enfermedades del Nervio Troclear/diagnóstico , Adolescente , Adulto , Anciano , Técnicas de Diagnóstico Oftalmológico , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto JovenRESUMEN
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.