Desiderio Rodrigues

Normal Fusion of the Metopic Suture

AbstractThere is some uncertainty as to when normal fusion of the metopic suture occurs. Existing studies have included relatively small numbers and have not used a statistical model to represent any variation in normality. In this study, a total of 337 head computed tomographic scans performed between 2006 and 2009 were retrospectively reviewed after strict exclusion criteria were met. Only patients aged younger than 18 months were included. Assessment was performed by analyzing axial slices of the bony window of the computed tomographic scan by 2 independent investigators. Two separate probit analyses were carried out to estimate the proportion of patients in whom the fusion process would have started and completed. Of 337 patients, 204 (60.5%) were male and 133 were female (39.5%). All patients older than 15 months and 23 days had completely fused metopic sutures. The estimated median age for the start of the fusion process was 4.96 months (95% confidence interval, 3.54–6.76 months), and the estimated median age for the completion of fusion was 8.24 months (95% confidence interval, 7.37–9.22 months). The fusion process completed between 2.05 and 14.43 months of age in 95% of the normal population. The difference between sexes was not significant. In conclusion, there was wide variation in the timing of normal fusion that can complete as early as 2 months of age.

Amelioration of Chiari type 1 malformation and syringomyelia following posterior calvarial distraction in Crouzon's syndrome--a case report.

Multisutural craniosynostosis as seen in Crouzon’s syndrome can result in raised intracranial pressure, Chiari malformation (CM) and syringomyelia. Posterior calvarial distraction (PD) is a technique for addressing cranio-cephalic disproportion, and this case report describes the reversal of both CM and syrinx in a 6-year-old child who underwent PD initially for raise intracranial pressure.

Experiences in Performing Posterior Calvarial Distraction.

Abstract The use of posterior calvarial distraction (PCD) for the management of craniosynostosis is well recognized. The advantages of using this technique include increased cranial volume, decreased intracranial pressure, relief of posterior fossa crowding, improved cerebrospinal fluid (CSF) circulation at the cranio-cervical junction with cessation, and possible resolution of syrinx. The authors retrospectively review their first 50 patients who have undergone PCD under the senior authors care in our unit. The demographics, diagnoses, intraoperative approach with techniques in distractor placement and outcomes of each patient were obtained through an electronic craniofacial database and written patient records. Analysis of complication rates (bleeding, distraction problems, CSF leaks, and infection) was included. A total of 31 boys and 19 girls underwent the procedure between October 2006 and September 2015 with a median age was 17.7 months (range 4 months to 19 years). Of those 50 children, 34 of the cohort were proven to be syndromic by genetic testing. The median length of inpatient stay was 9.4 days (range 3–43 days). Average distraction distance was 24 mm. Complications including CSF leaks, bleeding, distractor problems, and severe complications (recorded in 3 patients) are discussed. Our overall complication rate was 50%. Favorable outcomes included resolution of Chiari, syrinx, and raised intracranial pressure in the majority of patients where distraction was successful. The authors recommend that PCD should be considered the primary treatment for increasing calvarial volume. The authors discuss our experiences and technical innovations over the past decade.The use of posterior calvarial distraction (PCD) for the management of craniosynostosis is well recognized. The advantages of using this technique include increased cranial volume, decreased intracranial pressure, relief of posterior fossa crowding, improved cerebrospinal fluid (CSF) circulation at the cranio-cervical junction with cessation, and possible resolution of syrinx.The authors retrospectively review their first 50 patients who have undergone PCD under the senior authors care in our unit.The demographics, diagnoses, intraoperative approach with techniques in distractor placement and outcomes of each patient were obtained through an electronic craniofacial database and written patient records. Analysis of complication rates (bleeding, distraction problems, CSF leaks, and infection) was included.A total of 31 boys and 19 girls underwent the procedure between October 2006 and September 2015 with a median age was 17.7 months (range 4 months to 19 years). Of those 50 children, 34 of the cohort were proven to be syndromic by genetic testing.The median length of inpatient stay was 9.4 days (range 3-43 days). Average distraction distance was 24 mm.Complications including CSF leaks, bleeding, distractor problems, and severe complications (recorded in 3 patients) are discussed. Our overall complication rate was 50%.Favorable outcomes included resolution of Chiari, syrinx, and raised intracranial pressure in the majority of patients where distraction was successful.The authors recommend that PCD should be considered the primary treatment for increasing calvarial volume. The authors discuss our experiences and technical innovations over the past decade.

The Quality of Life in Adult Patients With Syndromic Craniosynostosis From Their Perspective.

Introduction:Clinical intuition may perceive those adults with syndromic craniosynostosis to have a lower quality of life (QOL) compared with the normative population. Classification of facial difference; standardization of cognitive capacity and selection of an appropriate QOL measurement tool provides a less intuitive and more evidence-based method of assessing QOL in this particular group of patients. Methods:Adults with syndromic craniosynostosis treated by the same surgeons underwent Whittaker Classification for facial difference by an independent observer. Neuropsychology screening ensured cognitive ability in patients for independent answering of a World Health Organization QOL postal questionnaire. Data analysis using descriptive and z test statistics allowed comparison to nonsyndromic adult United Kingdom data provided by the World Health Organization. Results:Forty adult patients met authors’ inclusion criteria. Whittaker Classification of facial difference ranged from I (31 patients) to II (8 patients) and III (1 patient). Quality of life showed no correlation to facial difference. Quality of life was better in the physical, psychological, and environmental domains compared with the normative adult UK population. However, no statistical difference was found in the social domain. Female Apert syndrome patients had a worse QOL than males in the social domain. Conclusions:The counterintuitive findings show that adult syndromic patients with similar cognitive capacity perceive their quality of life as being above that experienced in a normative UK nonsyndromic population with no correlation to the degree of facial difference.

Management of a transcranial abscess secondary to interleukin-1 receptor associated kinase 4 deficiency.

AbstractInterleukin-1 receptor associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency that predisposes to opportunistic pyogenic infections in affected patients. The presentation can be variable, and the microbiological and immunologic management of this condition has been documented; however, the atypical nature of its presentation calls for a different approach in its surgical management. This is the first reported case of transcranial progression of a soft tissue abscess in a patient with IRAK-4 deficiency, with an emphasis on a multidisciplinary approach to treat infection at an extremely vulnerable anatomic site.

Early recognition of occult spinal dysraphism through cutaneous stigmata

An 8-month-old girl born with a port wine stain and a dimple in the sacral area presented with a 5-month history of a gradually increasing swelling at this site. There was no history of fluid leak from the dimple; she had not been unwell and her …

Fifteen-minute consultation: incidental findings on brain and spine imaging

Incidental findings on imaging of the brain and spine account for a large number of referrals to a paediatric neurosurgical practice. They can be cause of undue concern to the parents and can result in unnecessary investigations and interventions. This article is a review of the common pathological entities identified as incidental findings in the authors experience. The list is not exhaustive and reflects mainly the common conditions referred. Very few of these incidental findings would need surgical intervention.

Fifteen-minute consultation: assessment of a child with suspected shunt problems

Cerebrospinal fluid diversion procedures have saved more lives than any other neurosurgical procedure. However, they do have a unique set of complications which a paediatrician in a district general hospital may encounter. Timely recognition and appropriate referral to the neurosurgeon is vital in order to avoid serious consequences and to have a favourable outcome.

Answers to Epilogue

1. Yes. The true prevalence of OSD in the general population is unknown. Approximately 3% of normal infants have cutaneous markers. Between 3% and 8% of these infants with cutaneous markers will have an underlying OSD. 4 About 76% (range 43%–95%) of patients with OSD have cutaneous lesions in the affected area, most commonly subcutaneous lipomas, dimples, port wine stains, localised hypertrichosis, faun tail and dermal sinuses. OSD is frequently associated with a combination of 2 or more different congenital midline lumbosacral lesions. Cases without cutaneous markers may remain asymptomatic throughout life or are found incidentally at the time of investigations for clinically unrelated symptoms. Symptoms, if present, become apparent mainly at the time of maximal growth. These include visible swelling, curvature deformity of the spine (scoliosis), neurological (weakness, spasticity, paraesthesia), urological or orthopaedic symptoms. Recognition of these midline lesions and their associations are, therefore, very important to facilitate an early multidisciplinary team approach to diagnosis and management. 2. Urological maldevelopment and dysfunction are frequently encountered, hence, early involvement of an urologist is crucial to improve outcomes. SACRAL syndrome (Spinal dysraphism, Anogenital, Cutaneous, Renal and urological anomalies, associated with Angioma of Lumbosacral localisation) needs to be considered in these patients. Babies may also have foot deformities like club foot or limb length discrepancy. Early diagnosis and treatment will prevent long-term sequelae. 3. Radiological investigation is warranted when the child presents with these cutaneous manifestations. MRI is considered to be the investigation of choice. This may require sedation in the newborn and in small children. Incomplete caudo-cranial ossification of the posterior vertebral arches makes high-resolution spinal ultrasound a good screening test in newborns suspected of OSD. However, children with abnormal ultrasound findings or inconclusive examination need to be investigated further with MRI scan for confirmation of the diagnosis and surgical planning. It is also important to look for renal abnormalities due to its frequent association with spinal dysraphism.

Does profession or experience affect a practitioner's perception when assigning potential harm avoided by pharmacists interventions

Aim The aims of the study were to assess the differences in rating of potential harm avoided by a pharmacists intervention using a multidisciplinary team and whether the experience of a healthcare professional affects how an intervention is rated. Method A random sample of 30 pharmacist interventions made on a neurosurgical ward were tabulated and sent to a multidisciplinary panel for review and grading using the National Reporting and Learning System risk scoring, one being negligible harm and five being catastrophic.1 Each intervention was subjected to the Medication Error Reporting and Prevention Index for categorising actual medication errors.2 The panel consisted of a consultant neurosurgeon, neurosurgical registrar, specialist nurse, senior pharmacist and junior pharmacist. Data included demographic and clinical details of the patient and the intervention made by the ward pharmacist. Each individual was asked to score each of the 30 interventions in terms of potential harm had the pharmacist not intervened. Results The mode for this data set was 2, the median was 3 and the range was 4. The neurosurgical registrar rated the interventions with the highest average intervention score of 2.1. The neurosurgical consultant and the junior pharmacist both had an average intervention score of 2.06. The specialist nurse and the senior pharmacist had the lowest average score for the interventions which were 1.93 and 1.8 respectively. 21 of the 30 interventions were made prior to the administration of the prescribed medication. An example of a high scoring intervention is the failure to prescribe buccal midazolam for a child who suffers with seizures, severe enough to warrant a stay in our paediatric intensive care unit. The basic grade pharmacist and the neurosurgical consultant were the only two who categorised any of the interventions as catastrophic. The specialist nurse categorised four of the interventions at a category of moderate to catastrophic, whereas the senior pharmacist categorised three within this category. Nine (30%) of the interventions made involved the use of antibiotics. 33% of these interventions related to antibiotic drug omissions and 33% related to under dosing the patient with antibiotics. These under doses reported were due to the Trust switching from the use of cefuroxime to cefotaxime (in the neurosurgical ward) as a first line antibiotic which was being used at a dose of 30 mg/kg instead of the standard 50 mg/kg. Conclusions The results show that professionals with similar experiences score interventions similarly such as the specialist nurse and senior pharmacist (both sit on the Trust Medicines Safety Committee) or the neurosurgical registrar and consultant. Future study will include a larger cohort from the medical, pharmacy and nursing team.