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BMJ Case Reports Feb 2019
Topics: Astrocytoma; Brain Neoplasms; Female; High-Throughput Nucleotide Sequencing; Humans; Mutation, Missense; Proto-Oncogene Proteins p21(ras); Sequence Analysis, DNA; Young Adult
PubMed: 30798277
DOI: 10.1136/bcr-2018-228128 -
Cureus Oct 2018Hyponatremia post-neurosurgical intervention can be dangerous and potentially life-threatening. Two of its most common causes are cerebral salt wasting (CSW) and...
Hyponatremia post-neurosurgical intervention can be dangerous and potentially life-threatening. Two of its most common causes are cerebral salt wasting (CSW) and syndrome of inappropriate anti-diuretic hormone release (SIADH). CSW is proposed to be secondary not only to the elevated levels of circulating atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) but inhibition of steroidogenesis in the zona glomerulosa of the adrenal cortex, thus resulting in mineralocorticoid deficiency. We present a two-year-old male who had developed acute hyponatremia secondary to CSW on post-operative day two after a sub-total resection of a low-grade juvenile pilocytic astrocytoma (WHO grade I). Fludrocortisone was successfully used to manage the refractory hyponatremia and alleviated the need to use very large amounts of oral sodium supplementation.
PubMed: 30648045
DOI: 10.7759/cureus.3505 -
Journal of Neurosurgery Jun 2018Optic pathway gliomas (OPGs) are relatively common and benign lesions in children; however, in adults these lesions are nearly always malignant and hold a very poor...
Optic pathway gliomas (OPGs) are relatively common and benign lesions in children; however, in adults these lesions are nearly always malignant and hold a very poor prognosis. In this report the authors present the case of an adult patient with a benign OPG who underwent subtotal resection without adjuvant therapy and has had no tumor progression for more than 20 years. A 50-year-old woman presented with a 2-year history of personality changes, weight gain, and a few months of visual disturbances. Ophthalmological evaluation showed incomplete right homonymous hemianopsia. MRI demonstrated a 2.5 × 2.5 × 2.5-cm enhancing left-sided lesion involving the hypothalamus with extension into the suprasellar cistern, extending along the left optic tract and anterior to the level of the optic chiasm. A biopsy procedure revealed a juvenile pilocytic astrocytoma. A subtotal resection of approximately 80% of the tumor was performed. Postoperatively, the patient experienced complete resolution of her personality changes, and her weight decreased back to baseline. Ophthalmological examination showed increased right homonymous hemianopsia. In the years following her surgery, there was a spontaneous decrease in tumor size without adjuvant therapy. The patient continues to have an excellent quality of life despite a visual field defect, and no further tumor growth has been observed.
PubMed: 29999469
DOI: 10.3171/2017.12.JNS172188 -
Acta Neurochirurgica Aug 2018Juvenile pilocytic astrocytomas represent the largest group of pediatric brain tumors. The ideal management for these tumors is early, total surgical resection. To...
BACKGROUND
Juvenile pilocytic astrocytomas represent the largest group of pediatric brain tumors. The ideal management for these tumors is early, total surgical resection. To detect and track treatment response, a screening tool is needed to identify patients for surgical evaluation and assess the quality of treatment. The identification of aberrant miRNA profiles in the sera of juvenile pilocytic astrocytoma patients could provide such a screening tool.
METHODS
The authors reviewed the serum profiles of 84 oncologically relevant miRNAs in pediatric juvenile pilocytic astrocytoma patients via qPCR screening.
RESULTS
miR-21, miR-15b, miR-23a, and miR-146b were significantly elevated in the sera of JPA patients as compared to non-oncologic controls, oncologic controls, and post-JPA resection samples (p < 0.001, 0.022, 0.034, 0.044). miR-21 had the highest AUC on ROC analysis (AUC > 0.99, sensitivity 75%, specificity 100%). All four miRNAs also correlated well with tumor mural nodule size, though they only poorly correlated with total tumor size, including cystic components (Spearman's R: miR-21 91.7 vs 6.9%, miR-15b 86.3 vs 23.1%, miR-23a 85.8 vs 23.0%, miR-146b 59.8 vs 11.9%).
CONCLUSION
In this small pilot study, pediatric juvenile pilocytic astrocytoma patients had significant elevations in serum miR-21, miR-15b, miR-23a, and miR-146b levels that do not appear to be driven by hydrocephalus or local distortion of the intracranial contents. These alterations correlate with solid tumor component volume and reverse with complete tumor resection, suggesting that this serum miRNA profile may delineate biomarkers for screening and tracking juvenile pilocytic astrocytoma patients. Additional studies, with a larger cohort, are needed to verify these results.
Topics: Adolescent; Astrocytoma; Biomarkers, Tumor; Brain Neoplasms; Cell-Free Nucleic Acids; Child; Female; Humans; Male; MicroRNAs
PubMed: 29911246
DOI: 10.1007/s00701-018-3589-6 -
World Neurosurgery Jul 2018Clips implanted during intracranial neurosurgical procedures sometimes migrate intradurally with rare cases of spinal migration. The appearance of radicular symptoms of...
BACKGROUND
Clips implanted during intracranial neurosurgical procedures sometimes migrate intradurally with rare cases of spinal migration. The appearance of radicular symptoms of topography concordant with the position of the foreign body leads to discussion about the optimal therapeutic strategy.
CASE DESCRIPTION
We report the case of a 52-year-old woman suffering from L5 radicular pain resistant to medical treatment in the presence of L4L5 lumbar stenosis and a neurosurgical clip migrated to the L5S1 level. This clip had been implanted 19 years earlier during a surgical procedure in the posterior fossa, for resection of a juvenile astrocytoma. The imputability of this clip was deemed low given its location and history. A laminarthrectomy associated with circumferential arthrodesis of the L4L5 level was performed allowing complete improvement of radiculopathy. Surgical removal of the clip was not performed.
CONCLUSION
Craniospinal migrations of neurosurgical clips are rare. Their imputability in the appearance of root symptoms is random and is based on a bundle of clinical, radiologic, and neurophysiologic arguments. Surgical removal should not be the standard treatment, especially if there is another cause of root compression.
Topics: Dura Mater; Female; Foreign-Body Migration; Hemostasis, Surgical; Humans; Lumbar Vertebrae; Middle Aged; Neurosurgical Procedures; Pain; Radiculopathy; Sciatica; Surgical Instruments
PubMed: 29689402
DOI: 10.1016/j.wneu.2018.04.082 -
Klinische Monatsblatter Fur... Mar 2018Neurofibromatosis type 2 (NF2) is a genetic condition with an autosomal dominant pattern of inheritance and incomplete penetrance. It is characterized by multiple benign... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Neurofibromatosis type 2 (NF2) is a genetic condition with an autosomal dominant pattern of inheritance and incomplete penetrance. It is characterized by multiple benign tumors of the central and peripheral nervous system including astrocytomas, ependymomas, meningeomas, and schwannomas, among which bilateral vestibular schwannomas are the most frequent. Among ocular manifestations of NF2, juvenile subcapsular cataract is the most common followed by epiretinal membranes and combined hamartomas of the retina and retinal pigment epithelium.
MATERIALS AND METHODS
Multimodal imaging was performed in a female patient and her data were compared to an overview of published cases with retinal hamartoma in NF2.
RESULTS
We report on a case of a 14-year-old girl with genetically confirmed NF2 who presented with bilateral, asymptomatic hyperplasia of glia cells within the ganglion cell and the nerve fibre layer by spectral domain optical coherence tomography (SD-OCT). A metaanalysis of 25 published cases revealed combined hamartomas of the retina and retinal pigment epithelium (CHRRPE) as the most common (16 cases) retinal tumors followed by retinal astrocytic hamartomas (RAH, 7 cases). Retinal hamartomas were most often reported bilaterally and observed prior to the clinical diagnosis of NF2 in 11 of 25 cases. No correlation to sex was observed. Reduced visual acuity, cataracts and epiretinal membranes were the leading ocular manifestations.
CONCLUSION
There is a large spectrum of ocular-specific findings in NF2. These are seminal, especially at an early age, enabling an early diagnosis and timely therapy of further tumor manifestations. Retinal astrocytic hamartomas may be very discreet and easily missed on routine examination. Fundus infrared imaging is a useful tool allowing to detect even discreet changes rarely seen by ophthalmoscopy in young children. This allows for a more extensive evaluation by SD-OCT.
Topics: Adolescent; Angiography; Astrocytes; DNA Mutational Analysis; Diagnosis, Differential; Diagnostic Techniques, Ophthalmological; Female; Fluorescein Angiography; Fundus Oculi; Hamartoma; Humans; Meningeal Neoplasms; Meningioma; Neurofibromatosis 2; Neurofibromin 2; Retinal Diseases; Tomography, Optical Coherence
PubMed: 29534265
DOI: 10.1055/a-0583-0291 -
Cureus Oct 2017The resection of deep-seated brain tumors has been associated with morbidity due to injury to critical neural structures during the approach. Recent technological...
The resection of deep-seated brain tumors has been associated with morbidity due to injury to critical neural structures during the approach. Recent technological advancements in navigation and stereotaxy, surgical planning, brain tractography and minimal-access brain ports present the opportunity to overcome such limitations. Here, we present the case of a pediatric patient with a left thalamic/midbrain juvenile pilocytic astrocytoma (JPA). The tumor displaced the corticospinal fibers posteriorly and resulted in hemiparesis. Using whole brain tractography to plan a corridor for the approach, neuronavigation, a tubular retractor and an exoscope for visualization, we obtained gross total resection of the tumor, while minimizing injury to white matter bundles, including the corticospinal fibers. We propose that surgical planning with whole brain tractography is essential for reducing morbidity while accessing deep-lying brain lesions via retractor tubes, by means of sparing critical fiber tracts.
PubMed: 29234572
DOI: 10.7759/cureus.1768 -
Journal of Neurosurgery. Pediatrics Jan 2018OBJECTIVE Primarily metastatic juvenile pilocytic astrocytoma (JPA) is rare, likely representing 2%-3% of all cases of JPA. Due to the rarity of primarily metastatic...
OBJECTIVE Primarily metastatic juvenile pilocytic astrocytoma (JPA) is rare, likely representing 2%-3% of all cases of JPA. Due to the rarity of primarily metastatic JPA, there is currently no standard treatment paradigm and the long-term outcomes are not fully known. The goal of this case series was to add to the current understanding of this disease process. METHODS The authors searched a comprehensive database of pediatric patients with brain and spinal cord tumors treated at Lucile Packard Children's Hospital from 1997 to 2016 and identified 5 patients with primarily metastatic JPA. A retrospective chart review was performed and details of the patients' treatment and clinical course were recorded for further analysis. RESULTS For the 5 patients with primarily metastatic JPA, the mean follow-up period was 12.3 years. All patients in our series had biopsies or subtotal resections and upfront treatment. Three patients were treated with chemotherapy alone, one was treated with chemotherapy and radiotherapy, and one was treated with radiotherapy alone. Four patients had stable disease after initial treatment, and one patient had multiple episodes of progressive disease but underwent successful salvage therapy and has had stable disease for 19 years. One patient died of an intracerebral hemorrhage 10 years following initial radiation treatment believed to be secondary to radiation vasculopathy. CONCLUSIONS Evaluation of the entire neuraxis should be performed in all instances of initial JPA diagnosis to properly assess for primarily metastatic disease. Many patients with primarily metastatic JPA will have stable disease after upfront treatment, although the higher rate of stable disease found in this series relative to other reports is likely secondary to the small sample size.
Topics: Adolescent; Astrocytoma; Brain Neoplasms; Chemoradiotherapy; Child; Child, Preschool; Fatal Outcome; Female; Humans; Male; Neoplasm Metastasis; Spinal Cord Neoplasms; Treatment Outcome
PubMed: 29125440
DOI: 10.3171/2017.7.PEDS17168 -
Seminars in Pediatric Neurology May 2017Tumors of the posterior fossa represent the most common solid malignancy of childhood and can affect the visual system in several ways. This article outlines the... (Review)
Review
Tumors of the posterior fossa represent the most common solid malignancy of childhood and can affect the visual system in several ways. This article outlines the relevant visual anatomy affected by these tumors and reviews the visual and oculomotor outcomes associated with the following 3 most common tumor types-medulloblastoma, juvenile pilocytic astrocytoma, and ependymoma. The available data suggest that the rate of permanent vision loss is low (5.9%-8.3%), with patients having juvenile pilocytic astrocytoma demonstrating the best outcomes. The rate of long-term strabismus (25%-29.1%) and nystagmus (12.5%-18%) is higher and associated with significant morbidity.
Topics: Astrocytoma; Child; Ependymoma; Eye Movements; Humans; Infratentorial Neoplasms; Medulloblastoma; Visual Perception
PubMed: 28941523
DOI: 10.1016/j.spen.2017.04.007 -
Neuro-Chirurgie Sep 2017Spinal cord tumors in children (SCTC) are rare with a frequent diagnostic delay. Its management is multidisciplinary and challenging due to functional implications. The...
INTRODUCTION
Spinal cord tumors in children (SCTC) are rare with a frequent diagnostic delay. Its management is multidisciplinary and challenging due to functional implications. The position of surgery is now better established but the role and timing of chemotherapy (CT) and radiotherapy (RT) still remains under debate. Adverse effects of treatments are important to be taken into account, in the follow-up of these children. The aim of this paper was to present a series of 21 cases of SCTC treated at the same institution, to briefly present clinical features, treatments and outcome, with a special focus on spinal deformities in children with this condition.
MATERIAL AND METHODS
Twenty-one consecutive SCTC were referred to our institution from 1990 to 2014. Data regarding age, sex, diagnostic delay, clinical examination, MRI, surgery, pathology, other treatment (CT and RT), orthopedic issues and follow-up of these children were retrospectively recorded.
RESULTS
Mean age was 8years (standard deviation: 5.2years) (range: 4 months-17years). Mean diagnosis delay was 5.5 months (standard deviation: 6.5 months) (range: 0 days-18 months). All children (10 girls, 11 boys) were operated on (10 partial removals, 7 subtotal and 4 gross total removals) as first-line treatment. Pathological results showed 12 juvenile pilocytic astrocytomas, 1 grade III astrocytoma, 1 grade IV astrocytoma, 3 oligodendrogliomas, 2 ependymomas, 1 glioblastoma and 1 rhabdoid tumor. Fourteen children (66.7%) received additional treatment: 12 CT and 7 RT. Ten children had postoperative spinal deformities. Mean follow-up (FU) was 71 months (5 months-180 months), with a median FU at 60 months, where 8 tumor progressions and 4 deaths were observed. Overall, survival (at 5years) was 81% and progression free survival (at 5years) was 67%.
CONCLUSION
Surgery is the goal standard for SCTC and the only appropriate treatment in cases of a low-grade lesion with stable disease on MR follow-up. Additional treatment must be reserved for high-grade lesions or tumor progression not attainable by a second look surgery. Spinal deformities are a frequent complication. Overall, survival and event free survival primarily depends on the pathology. Studies involving more centers are obligatory with the aim of collecting more cases and drawing more definitive conclusions regarding the management of these tumors.
Topics: Adolescent; Child; Child, Preschool; Delayed Diagnosis; Female; Humans; Infant; Magnetic Resonance Imaging; Male; Neurosurgical Procedures; Retrospective Studies; Spinal Cord Neoplasms; Survival Analysis
PubMed: 28870453
DOI: 10.1016/j.neuchi.2017.01.008