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1.
J Craniofac Surg ; 35(1): 114-118, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38063395

RESUMEN

Trigonocephaly is a craniofacial malformation caused by premature fusion of the metopic suture. Surgical correction frequently results in the need for blood transfusion. Transfusion complications include transfusion-transmitted infections (TTIs), immune-mediated reactions, and volume overload. Donor exposure (DE) describes the number of blood products from unique donors with increasing DE equating to an increased risk of TTI. We evaluate data on 204 trigonocephaly patients covering 20 years of practice with respect to blood transfusions and DE. This represents the largest series from a single unit to date. A protocol based on our experiences has been devised that summarizes the key interventions we recommend to minimize blood transfusions and DE in craniofacial surgery. Patients operated on between 2000 and 2020 were included. DE and a range of values were calculated including estimated red cell loss (ERCL) and estimated red cell volume transfused (ERCVT). Groups were established by relevant interventions and compared using the Mann-Whitney U test. Mean DE fell from 1.46 at baseline to 0.85 ( P <0.05). Median allogenic transfusion volume fell from 350 mL at baseline to 250 mL ( P <0.05). Median ERCL fell from 15.05 mL/kg at baseline to 12.39 mL/kg and median ERCVT fell from 20.85 to 15.98 mL/kg. Changes in ERCL and ERCVT did not reach statistical significance. DE can be minimized with the introduction of key interventions such as a restrictive transfusion policy, preoperative iron, cell saver, tranexamic acid, and use of a matchstick burr for osteotomies.


Asunto(s)
Craneosinostosis , Ácido Tranexámico , Humanos , Pérdida de Sangre Quirúrgica , Transfusión Sanguínea/métodos , Craneosinostosis/cirugía
2.
J Neurosurg Pediatr ; 33(3): 207-213, 2024 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-38134418

RESUMEN

OBJECTIVE: The Neurolocate module is a 3D frameless patient registration module that is designed for use with the Neuromate stereotactic robot. Long-term electrical stimulation of the globus pallidus internus (GPi) and subthalamic nucleus (STN) via deep brain electrode implantation is particularly successful in a select group of movement disorders in pediatric patients. This study aimed to review the targeting accuracy of deep brain stimulation (DBS) electrode implantation in a single center, comparing standard frame-based techniques to the frameless Neurolocate module. METHODS: Twenty-four pediatric patients underwent implantation of bilateral DBS electrodes under general anesthesia during the period of August 2018-August 2022. All patients underwent robot-assisted stereotactic implantation of DBS electrodes using an intraoperative O-arm 3D scanner to confirm the final electrode position. These coordinates were compared with the planned entry and target, with attention to depth, radial, directional, and absolute errors, in addition to Euclidean distance (ED). The primary outcome evaluated the accuracy and safety of the Neurolocate frameless technology compared with standard frame-based techniques. RESULTS: Of the 24 bilateral DBS electrode implantations performed, 62.5% used Neurolocate technology: 87.5% were delivered to the GPi and the remaining 12.5% to the STN. The mean patient age was 11.0 (range 4-18) years and 70.8% were male. The median absolute errors in x-, y-, and z-axes were 0.35, 0.75, and 0.9 mm, respectively, using the Neurolocate module compared with 0.30, 0.95, and 1.1 mm using the standard frame-based technique. The median ED from the planned target to the actual electrode position with the Neurolocate module was 1.28 mm versus 1.69 mm using standard frame-based techniques. No major perioperative complications occurred. CONCLUSIONS: Stereotactic robot-assisted DBS implantation with the frameless Neurolocate module is safe for use in the pediatric population, showing good surgical accuracy and no inferiority to standard frame-based techniques. The Neurolocate module for robotic DBS surgery has the potential to improve surgical targeting accuracy, surgical time, patient comfort, and safety.


Asunto(s)
Estimulación Encefálica Profunda , Robótica , Cirugía Asistida por Computador , Humanos , Niño , Masculino , Preescolar , Adolescente , Femenino , Imagenología Tridimensional , Tomografía Computarizada por Rayos X , Electrodos , Electrodos Implantados , Técnicas Estereotáxicas
3.
Pediatr Neurosurg ; 58(4): 215-222, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37393893

RESUMEN

INTRODUCTION: We present the largest series of paediatric intracranial empyemas occurring after COVID-19 infection to date, and discuss the potential implications of the pandemic on this neurosurgical pathology. METHODS: Patients admitted to our centre between January 2016 and December 2021 with a confirmed radiological diagnosis of intracranial empyema were retrospectively reviewed, excluding non-otorhinological source cases. Patients were grouped according to onset before or after onset of the COVID-19 pandemic and COVID-19 status. A literature review of all post-COVID-19 intracranial empyemas was performed. SPSS v27 was used for statistical analysis. RESULTS: Sixteen patients were diagnosed with intracranial empyema: n = 5 prior to 2020 and n = 11 after, resulting in an average annual incidence of 0.3% prior to onset of the pandemic and 1.2% thereafter. Of those diagnosed since the pandemic, 4 (25%) were confirmed to have COVID-19 on recent PCR test. Time from COVID-19 infection until empyema diagnosis ranged from 15 days to 8 weeks. Mean age for post-COVID-19 cases was 8.5 years (range: 7-10 years) compared to 11 years in non-COVID cases (range: 3-14 years). Streptococcus intermedius was grown in all cases of post-COVID-19 empyema, and 3 of 4 (75%) post-COVID-19 cases developed cerebral sinus thromboses, compared to 3 of 12 (25%) non-COVID-19 cases. All cases were discharged home with no residual deficit. CONCLUSION: Our post-COVID-19 intracranial empyema series demonstrates a greater proportion of cerebral sinus thromboses than non-COVID-19 cases, potentially reflecting the thrombogenic effects of COVID-19. Incidence of intracranial empyema at our centre has increased since the start of the pandemic, causes of which require further investigation and multicentre collaboration.


Asunto(s)
COVID-19 , Empiema , Trombosis de los Senos Intracraneales , Niño , Humanos , Estudios Retrospectivos , Pandemias , Resultado del Tratamiento , COVID-19/epidemiología , Empiema/diagnóstico , Empiema/epidemiología , Empiema/cirugía
4.
J Craniofac Surg ; 34(7): 2099-2103, 2023 Oct 01.
Artículo en Inglés | MEDLINE | ID: mdl-37226293

RESUMEN

Saethre-Chotzen syndrome (SCS) is a syndromic craniosynostosis with pathogenic variants in the TWIST1 gene showing a broad phenotypic spectrum. Controversies exist in the literature regarding surgical management with single one-stage versus patient-tailored surgery and the related reoperation rate for intracranial hypertension of up to 42%. At our center, SCS patients are offered patient-tailored surgery with single-stage fronto-orbital advancement and remodeling or fronto-orbital advancement and remodeling and posterior distraction in an individually determined order. The authors' database identified 35 confirmed SCS patients between 1999 and 2022. Involved sutures in craniosynostosis were left unicoronal (22.9%), bicoronal (22.9%), sagittal (8.6%), bicoronal and sagittal (5.7%), right unicoronal (2.9%), bicoronal and metopic (2.9%), bicoronal, sagittal and metopic (2.9%), and bilateral lambdoid (2.9%). There was pansynostosis in 8.6% and no craniosynostosis in 14.3% of the patients. Twenty-six patients, 10 females, and 16 males were operated on. Mean age at the first surgery was 1.70 years, and 3.86 years at the second surgery. Eleven of 26 patients had invasive intracranial pressure monitoring. Three patients presented with papilledema before the first surgery and 4 afterward. Four of the 26 operated patients were operated initially elsewhere. The other 22 patients were initially referred to our unit and underwent patient-tailored surgery. Nine of these patients (41%) had a second surgery, and 3 (14%) of them were because of raised intracranial pressure. Seven (27%) of all operated patients had a complication. Median follow-up was 13.98 years (range, 1.85-18.08). Patient-tailored surgery in a specialized center and long-term follow-up allow for a low reoperation rate for intracranial hypertension.


Asunto(s)
Acrocefalosindactilia , Craneosinostosis , Hipertensión Intracraneal , Masculino , Femenino , Humanos , Lactante , Acrocefalosindactilia/complicaciones , Reoperación , Craneosinostosis/cirugía , Craneosinostosis/complicaciones , Cráneo/cirugía , Hipertensión Intracraneal/etiología
5.
Childs Nerv Syst ; 39(11): 3195-3205, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37093265

RESUMEN

PURPOSE: The aim of the study is to enhance understanding, raise awareness and inform prevention programmes regarding potential factors that lead to severe paediatric injuries caused by unintentional falls from windows. METHODS: This is a retrospective review from a major Trauma Centre, covering the majority of North West England and North Wales and included children under the age of 16 that had sustained falls from windows and were hospitalised between April 2015 and June 2020. RESULTS: Overall, 825 patients' records have been reviewed, 39% of which exhibited neurosurgical injuries (322 admissions). The most common cause of injury was falls (42%), out of which 19% was identified as falls from windows which was eventually the core focus of this review (25 patients). The records showed that 72% of the falls were not witnessed by another individual, suggesting that children were being left unattended. Average GCS recorded at presentation was 11.2 and 56% of cases were identified as severe major traumas. With a mean stay of 2.2 days in ICU, 1.6 days in HDU and 6 days in the neurosurgical clinic, average treatment costs per patient were £4,493, £651 and £4,156 respectively. Finally, 52% of patients were identified to require long-term physiotherapy/occupational therapy due to permanent disabilities, 20% long-term antiepileptic treatment for seizures and 44% long-term psychological services input. CONCLUSION: This study presents our experience at a major tertiary trauma centre in the UK over a 5-year period, from a paediatric neurosurgical injuries perspective due to fall from windows. We aim to raise awareness and highlight the importance of establishing prevention programmes which would hopefully decrease the incidence of paediatric window falls.


Asunto(s)
Hospitalización , Centros Traumatológicos , Niño , Humanos , Estudios Retrospectivos , Convulsiones/prevención & control
6.
J Craniofac Surg ; 34(3): e283-e287, 2023 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-36928030

RESUMEN

Craniosynostosis is the premature fusion of the skull sutures, resulting in abnormal skull shape and volume. Timely management is a priority in avoiding raised intracranial pressure which can result in blindness and neurodevelopmental delay. Due to the COVID-19 pandemic, theater access was reduced. A risk stratification scoring system was thus devised to score patients attending surgery and aid in prioritization according to surgical need. The authors present the Paediatric Vault Score (PVS), which can also be customized to each unit's individual protocols. Ten patients on the waiting list were randomly selected and their clinical information was summarized in uniform anonymized reports. Six craniofacial consultants were selected as assessors and given 1 week to independently rank the patients from 1 to 10. Each scorer's ranking was verified against the PVS template and concordance was analyzed using the Kendall tau correlation coefficient (KT). Three cycles of the scoring process were carried out. Improvements were made to the scoring tool following cycle 1. Cycle 1 revealed 2 clinicians to be concordant with the PVS system and 4 to be discordant. Cycle 2 revealed all 6 clinicians to be concordant, with a mean KT score of 0.61. The final cycle revealed all 6 clinicians to be concordant, with a mean KT score of 0.70. Four scorers increased their concordance once the scoring sheet was introduced. Kendall's correlation of concordance calculated the interrater reliability to be 0.81. The PVS is the first known vault scoring system to aid in risk stratification and waiting list prioritization.


Asunto(s)
COVID-19 , Craneosinostosis , Niño , Humanos , Reproducibilidad de los Resultados , Pandemias , Craneosinostosis/cirugía , Suturas Craneales , Cráneo/cirugía
7.
Childs Nerv Syst ; 39(2): 451-462, 2023 02.
Artículo en Inglés | MEDLINE | ID: mdl-35933521

RESUMEN

OBJECTIVE: Subcortical band heterotopia is a rare X-linked neuronal migration disorder primarily in females often associated with drug-resistant epilepsy. The aim of this study is to review the literature for non-pharmacological treatment options of drug-resistant epilepsy in subcortical band heterotopia. MATERIAL AND METHODS: In accordance with the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines, we performed a systematic review. Entering the keywords "double cortex," "subcortical band heterotopia," and "subcortical laminar heterotopia," we searched Scopus and PubMed databases. We paid particular attention to type of invasive and non-invasive treatment, radiological presentation, and outcome. We also describe a related case report, managed at Alder Hey Children's Hospital, Liverpool. RESULTS: The systematic literature review yielded 25 patients with subcortical band heterotopia and drug-resistant epilepsy who underwent non-pharmacological treatment. Including our patient, 26 patients were reported. The patients' mean age at seizure onset was 6.5 years (range 0.2-23) with a female sex predilection (5.25:1). The patients' mean age at invasive or non-invasive treatment was 21.5 years (range 6.5-51). The 26 patients underwent 29 non-pharmacological treatments. Ten patients underwent corpus callosotomy; 8 patients had a formal temporal lobectomy. Three patients had focal cortical resection. Two patients respectively had multiple subpial transections, insertion of a vagal nerve stimulator, or deep brain stimulation of the bilateral anterior nuclei of the thalamus. One patient underwent responsive focal neurostimulation. Another patient had transcutaneous stimulation of the vagal nerve. Sixteen patients reported a reduction or the disappearance of the seizures; 1 patient had no improvement. The outcome of 2 patients was classified class I, of 1 patient class II, of 1 patient class III, and of 5 patients class IV according to the Engel Epilepsy Surgery Outcome Scale. CONCLUSION: Mainly corpus callosotomy and formal temporal lobectomy have been performed as non-pharmacological treatment with few cases published overall. Several other invasive procedures and one non-invasive technique are based on case reports. The small number of reported cases prevents drawing a firm conclusion as to which non-pharmacological treatment is the best treatment option for refractive epilepsy in patients with subcortical band heterotopia.


Asunto(s)
Lisencefalias Clásicas y Heterotopias Subcorticales en Banda , Epilepsia Refractaria , Epilepsia , Niño , Humanos , Femenino , Lactante , Preescolar , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Epilepsia/cirugía , Convulsiones , Tálamo , Resultado del Tratamiento
8.
J Pediatr Neurosci ; 17(Suppl 1): S67-S76, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36388008

RESUMEN

Chiari 1 malformation and hydrocephalus are frequent findings in multi-suture and syndromic craniosynostosis patients. In this article, we review the pathogenesis, clinical significance, and management options for these conditions with comments from our own experience. The role of premature fusion of skull base sutures leading to a crowded posterior fossa and venous outflow obstruction resulting in impaired cerebrospinal fluid (CSF) absorption is highlighted. Management options are unique in this group and we advocate early (prior to 6 months of age) posterior vault expansion by distraction osteogenesis (DO) in the management of Chiari 1 malformation. Foramen magnum decompression is recommended for a select few either as part of posterior vault expansion or at a later date. Treatment of hydrocephalus, utilizing a ventriculoperitoneal (VP) shunt with preferably a programmable high-pressure valve and anti-siphon device, is required in a small percentage of cases despite successful posterior vault expansion. Patients need to be carefully selected and managed as hydrocephalus often serves as an important cranial vault growth stimulus. Further, they require careful monitoring and thought to ensure the management of these conditions and the timing of any intervention provides the optimal long-term outcome for the patient.

9.
Neuroradiology ; 64(5): 1033-1035, 2022 May.
Artículo en Inglés | MEDLINE | ID: mdl-35199208

RESUMEN

The thyroid transcription factor 1 (TITF-1) gene plays an important role in the development of the ventral forebrain, thyroid and lungs. Mutations of this gene are known to cause benign hereditary chorea (BHC) and can cause the full spectrum of abnormalities seen in the brain-thyroid-lung syndrome. Abnormalities of the ventral forebrain on imaging have been variably documented in the literature. Multiple previous reports describe a cystic pituitary mass, as well as duplication of the pituitary stalk and communication between an intrasellar cyst and the third ventricle. The initial MRI performed in our case was interpreted as an intrasellar cyst, but the high-resolution MRI performed later was able to resolve this as a persisting embryonal infundibular recess (PEIR), rather than the cystic pituitary mass which has previously been described. This case illustrates the role of the TITF-1 gene in the development of the pituitary and hypothalamus.


Asunto(s)
Corea , Quistes , Tercer Ventrículo , Corea/genética , Humanos , Mutación , Hipófisis/diagnóstico por imagen , Factor Nuclear Tiroideo 1/genética
10.
J Neurosurg Pediatr ; 27(6): 677-687, 2021 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-33862592

RESUMEN

OBJECTIVE: Deep brain stimulation (DBS) is an established treatment for pediatric dystonia. The accuracy of electrode implantation is multifactorial and remains a challenge in this age group, mainly due to smaller anatomical targets in very young patients compared to adults, and also due to anatomical abnormalities frequently associated with some etiologies of dystonia. Data on the accuracy of robot-assisted DBS surgery in children are limited. The aim of the current paper was to assess the accuracy of robot-assisted implantation of DBS leads in a series of patients with childhood-onset dystonia. METHODS: Forty-five children with dystonia undergoing implantation of DBS leads under general anesthesia between 2017 and 2019 were included. Robot-assisted stereotactic implantation of the DBS leads was performed. The final position of the electrodes was verified with an intraoperative 3D scanner (O-arm). Coordinates of the planned electrode target and actual electrode position were obtained and compared, looking at the radial error, depth error, absolute error, and directional error, as well as the euclidean distance. Functional assessment data prospectively collected by a multidisciplinary pediatric complex motor disorders team were analyzed with regard to motor skills, individualized goal achievement, and patients' and caregivers' expectations. RESULTS: A total of 90 DBS electrodes were implanted and 48.5% of the patients were female. The mean age was 11.0 ± 0.6 years (range 3-18 years). All patients received bilateral DBS electrodes into the globus pallidus internus. The median absolute errors in x-, y-, and z-axes were 0.85 mm (range 0.00-3.25 mm), 0.75 mm (range 0.05-2.45 mm), and 0.75 mm (range 0.00-3.50 mm), respectively. The median euclidean distance from the target to the actual electrode position was 1.69 ± 0.92 mm, and the median radial error was 1.21 ± 0.79. The robot-assisted technique was easily integrated into the authors' surgical practice, improving accuracy and efficiency, and reducing surgical time significantly along the learning curve. No major perioperative complications occurred. CONCLUSIONS: Robot-assisted stereotactic implantation of DBS electrodes in the pediatric age group is a safe and accurate surgical method. Greater accuracy was present in this cohort in comparison to previous studies in which conventional stereotactic frame-based techniques were used. Robotic DBS surgery and neuroradiological advances may result in further improvement in surgical targeting and, consequently, in better clinical outcome in the pediatric population.


Asunto(s)
Estimulación Encefálica Profunda/métodos , Trastornos Distónicos/cirugía , Procedimientos Quirúrgicos Robotizados/métodos , Adolescente , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Masculino , Estudios Prospectivos
11.
J Craniofac Surg ; 32(6): 2123-2128, 2021 Sep 01.
Artículo en Inglés | MEDLINE | ID: mdl-33496519

RESUMEN

ABSTRACT: Isolated metopic synostosis presents with a range of severity, from a palpable ridge as the sole presenting feature to a constellation of features resulting in trigonocephaly. At our unit, patients on the moderate to severe end of the phenotypic spectrum of trigonocephaly are offered fronto-orbital advancement and remodeling. The authors present our series of trigonocephaly patients who have undergone surgical correction. From January 2000 to January 2020, the authors operated on 231 patients with trigonocephaly. The average age at surgery was 18 months, with an average follow-up of 77.4 months. Seventy-nine percent of patients had no comorbidity. Ten percent of patients sustained a dural tear with no long-term consequences. The total early complication rate was 12.1%. The most common early complications were wound infection and wound dehiscence at 7.4% and 3.9% respectively. The total reoperation rate was 6.5%. The introduction of infection prevention and control measures over the 2 decades at our unit reduced the reoperation rate to 1.1%. The most common late complication was temporal recession in 20.8% of patients, none of whom required aesthetic correction. The recurrence rate of a metopic ridge was 2.3% with no patients requiring further surgery. None of our patients required calvarial remodeling for raised intracranial pressure after the primary fronto-orbital advancement and remodeling. There were no life-threatening complications or mortalities in our cohort. The authors present recommendations which include an infection control care bundle, cessation of surgical drains, and practice adjustments to reduce risks of infection and risk of requiring further calvarial remodelling for raised intracranial pressure.


Asunto(s)
Craneosinostosis , Hipertensión Intracraneal , Craneosinostosis/cirugía , Estética Dental , Humanos , Lactante , Complicaciones Posoperatorias/epidemiología , Reoperación , Estudios Retrospectivos , Resultado del Tratamiento
12.
J Craniofac Surg ; 32(1): 331-335, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33055560

RESUMEN

ABSTRACT: Unilateral synostotic frontal plagiocephaly is most commonly due to a premature fusion of the frontoparietal suture. However, the coronal ring comprises of major and minor sutures and these sutures in isolation or in combination can result in similar clinical presentations which can make diagnosis challenging and result in a delay in referral to a craniofacial surgeon for timely management. Isolated frontosphenoidal craniosynostosis is a rare clinical entity with only 49 cases reported in the English literature to date. The authors present our series of 4 patients to add to this cohort of patients and describe key characteristics to distinguish frontoparietal from isolated frontosphenoidal synostosis and introduce a means of differentiating these 2 diagnoses from posterior deformational plagiocephaly and unilateral lambdoid synostosis. All previous case reports have been diagnosed after radiological imaging but the authors have devised a novel algorithm to aid the clinician in diagnosis of craniosynostosis before any radiological imaging.


Asunto(s)
Craneosinostosis , Algoritmos , Suturas Craneales/diagnóstico por imagen , Craneosinostosis/diagnóstico por imagen , Humanos , Lactante , Hueso Esfenoides , Tomografía Computarizada por Rayos X
13.
J Craniofac Surg ; 31(5): 1223-1227, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32282677

RESUMEN

BACKGROUND: Isolated sagittal synostosis is the most common form of nonsyndromic craniosynostosis. The surgical management of this condition ranges from strip craniectomy to total cranial vault remodeling. In our unit, passive correction of sagittal synostosis utilizing open extended midline strip craniectomy with bilateral micro-barrel staving is performed before 22 weeks corrected age. The aim of this prospective study is to identify the effectiveness and morbidity associated with this technique. PATIENTS AND METHODS: Nonsyndromic patients who underwent OMEC at a tertiaryreferral-center (Alder Hey Children's Hospital, Liverpool, UK) over a 3-year period (2014-2016) were included. In particular, we looked at pre- and postoperative cranial index (CI), as well as other secondary outcomes such as rates of transfusion and reoperation. RESULTS: A total of 44 patients (12 female, 32 male) met the inclusion criteria. Median age at operation was 132 (range 99-171) days. Median operative time was 117 (range 89-171) minutes. Twenty-four patients underwent a blood transfusion. Median pre-op CI was 66 (range 61-74.7)%. The first post-op CI, taken a median of 56 (range 12-107) days postoperatively, was 78 (range 73-87)%. No patients required reoperation. There were no perioperative deaths. CONCLUSION: Early open extended midline strip craniectomy with bilateral micro-barrel staving for correction of isolated nonsyndromic sagittal synostosis is a safe and effective technique, associated with minimal morbidity, producing sustained satisfactory head shape morphology on short to medium-term follow-up.


Asunto(s)
Craneosinostosis/cirugía , Craneotomía , Transfusión Sanguínea , Craneotomía/métodos , Femenino , Humanos , Lactante , Masculino , Periodo Posoperatorio , Estudios Prospectivos , Procedimientos de Cirugía Plástica/métodos , Reoperación , Estudios Retrospectivos , Cráneo/cirugía , Resultado del Tratamiento
14.
Clin Genet ; 98(1): 19-31, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32291752

RESUMEN

Heterozygous activating variants in platelet-derived growth factor, beta (PDGFRB) are associated with phenotypes including Kosaki overgrowth syndrome (KOGS), Penttinen syndrome and infantile myofibromatosis (IM). Here, we present three new cases of KOGS, including a patient with a novel de novo variant c.1477A > T p.(Ser493Cys), and the oldest known individual age 53 years. The KOGS phenotype includes characteristic facial features, tall stature, scoliosis, hyperelastic thin skin, lipodystrophy, variable intellectual and neurological deterioration, and abnormalities on brain imaging. Long-term outcome is unknown. Our cases confirm the phenotypic spectrum includes progressive flexion contractures, camptodactyly, widely spaced teeth, and constriction rings. We also propose novel occasional features including craniosynostosis, ocular pterygia, anterior chamber cleavage syndrome, early osteoporosis, increased pigmentation, recurrent haematomas, predisposition to cellulitis, nail dystrophy, carpal tunnel syndrome, recurrent hypoglycaemia in infancy, joint dislocation, and splenomegaly. Importantly, we report fusiform aneurysm of the basilar artery in two patients. Complications include thrombosis and stroke in the oldest reported patient and fatal rupture at the age of 21 in the patient with the novel variant. We conclude that cerebrovascular complications are part of the phenotypic spectrum of KOGS and KOGS-like disorders and suggest vascular imaging is indicated in these patients.


Asunto(s)
Trastornos Cerebrovasculares/etiología , Trastornos Cerebrovasculares/genética , Variación Genética/genética , Trastornos del Crecimiento/complicaciones , Trastornos del Crecimiento/genética , Receptor beta de Factor de Crecimiento Derivado de Plaquetas/genética , Adulto , Humanos , Masculino , Persona de Mediana Edad , Fenotipo
15.
Childs Nerv Syst ; 36(9): 2021-2025, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32020268

RESUMEN

OBJECTIVE: The management of paediatric hydrocephalous remains challenging with the complication and revision rates being consistent in the literature. We hypothesise that the use of a fixed pressure gravitational valve for all de novo shunt insertions decreases the rate of functional revisions and that by implementing the routine use of gravitational valves in children, we would see a reduction in over-drainage and slit ventricle syndrome. METHODS: Retrospective data collection in a single centre, between February 2010 and August 2018. All patients undergoing fixed pressure gravitational Miethke valve insertion were included. We collected data on patients' demographics, reason for shunt insertion, type of valve and time to and reason for first revision. Data analysis was done with SPSS. RESULTS: A total of 235 patients were included in our study (124 males, 111 females), aged from 0 to 18.6 years (median 0.28). A total of 99 shunt revisions were documented, 30 of which secondary to ventricular catheter malfunction and 28 secondary to infection. The overall mechanical valve survival rates were 88.5%, 86.4% and 85.5% at 1, 2 and 5 years, respectively. Shunt revision due to over-drainage was documented in only 3 cases (1.3%). CONCLUSION: Our results are in agreement with existing literature regarding shunt failures secondary to all extrinsic factors to the valve (infection and mechanical failure). We have shown that the use of a Miethke fixed pressure valve for all de novo shunt insertions in paediatric hydrocephalus decreases the need for functional revisions with valve survival rates being superior to the ones described for other types.


Asunto(s)
Derivaciones del Líquido Cefalorraquídeo , Hidrocefalia , Derivaciones del Líquido Cefalorraquídeo/efectos adversos , Niño , Femenino , Gravitación , Hospitales , Humanos , Hidrocefalia/etiología , Hidrocefalia/cirugía , Masculino , Estudios Retrospectivos , Derivación Ventriculoperitoneal
16.
Postgrad Med J ; 95(1128): 524-530, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31431519

RESUMEN

Academic neurosurgery encompasses basic science and clinical research efforts to better understand and treat diseases of relevance to neurosurgical practice, with the overall aim of improving treatment and outcome for patients. In this article, we provide an overview of the current and future directions of British academic neurosurgery. Training pathways are considered together with personal accounts of experiences of structured integrated clinical academic training and unstructured academic training. Life as an academic consultant is also described. Funding is explored, for the specialty as a whole and at the individual level. UK academic neurosurgical organisations are highlighted. Finally, the UK's international standing is considered.


Asunto(s)
Neurocirugia/organización & administración , Universidades , Humanos , Edición , Apoyo a la Investigación como Asunto , Sociedades Médicas , Reino Unido
18.
NPJ Parkinsons Dis ; 4: 16, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29845108

RESUMEN

INTRODUCTION: Deep brain stimulation (DBS) markedly improves motor function in advanced Parkinson's disease (PD), but its effect on sleep is less clear. PATIENTS AND METHODS: Forty PD patients who had subthalamic DBS (STN-DBS) were identified from an on-going non-motor naturalistic longitudinal study (NILS). All patients were followed up for at least 6 months, 26 patients had a 1 year follow-up. A total PDSS score of 100 or less, a score in any PDSS-item of 6 or less, and a Epworth score of 10 or more were classified as being significant. RESULTS: Forty-five percent of patients reported significant improvement in the total PDSS score at 6 months, and 35% at 12 months. In terms of magnitude, the total PDSS score at 6 months was significantly improved from baseline while the improvement at 12 months was not statistically significant. The most frequently reported improvements were overall sleep quality and maintenance of sleep. Some patients reported worsening of the total PDSS score. More than half of the patients reporting daytime sleepiness at baseline had persistent sleepiness at 6 and 12 months. The mean Epworth Score did not improve because a significant number of patients without sleepiness at baseline reported new-onset sleepiness at 6 and 12 months. Neither medication changes nor motor improvement were consistently related to sleep changes after DBS. CONCLUSION: Subthalamic DBS is associated with a statistically and clinically significant, but variable, improvement in sleep as measured by the PDSS. The most frequent improvements were better overall sleep quality and better sleep maintenance.

19.
J Clin Neurosci ; 51: 6-11, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29483013

RESUMEN

Endoscopic third ventriculostomy (ETV) is increasingly used in place of shunt revision for shunt malfunction (secondary ETV). This review provides a comprehensive overview of preoperative, operative and postoperative considerations for patients undergoing a secondary ETV. Preoperatively, patient selection is vital and there is evidence that secondary ETV is more effective than primary ETV in certain hydrocephalic aetiologies. Operative considerations include use of neuronavigation and consideration of surgeon technical experience due to anatomical differences that are likely to accompany chronic shunting, management of existing shunt hardware and the use of temporary external ventricular drains or short/long-term ventricular access devices. Postoperatively, there are varying institutional practices with regards to ICP monitoring and length of follow-up after discharge. Finally, this review examines the slit ventricle syndrome as a special case requiring a different approach.


Asunto(s)
Derivaciones del Líquido Cefalorraquídeo , Neuroendoscopía/métodos , Reoperación/métodos , Ventriculostomía/métodos , Niño , Preescolar , Femenino , Humanos , Hidrocefalia/cirugía , Masculino , Selección de Paciente , Periodo Posoperatorio , Tercer Ventrículo/cirugía , Resultado del Tratamiento
20.
Br J Neurosurg ; 31(3): 289, 2017 06.
Artículo en Inglés | MEDLINE | ID: mdl-28637116

RESUMEN

Suspected cauda equina syndrome (CES) requires urgent evaluation, investigation and treatment. Timing of cauda equina decompression is crucial, and delays in its management, leading to significant irreversible disability can be devastating for patient and surgeon alike. The standard of care in CES therefore needs to be clear and unambiguous. Todd and Dickson have written an excellent paper summarising the condition, and have outlined what they feel is the standard of care. We would ask the authors to clarify an important point.


Asunto(s)
Síndrome de Cauda Equina , Cauda Equina , Polirradiculopatía/cirugía , Cirujanos , Humanos , Imagen por Resonancia Magnética , Neurocirujanos , Nivel de Atención
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