Craniopharyngioma: A comprehensive review of the clinical presentation, radiological findings, management, and future Perspective.

Craniopharyngioma (CP) is a rare intracranial tumor arising from the epithelial remnants of Rathke's pouch, most frequently originating in the sellar/parasellar region. Histologically, CP is a benign low-grade tumor (WHO grade 1) with two distinct phenotypes: adamantinomatous CP (ACP) and papillary CP (PCP). Craniopharyngioma constitutes 1-3% of all primary intracranial tumors in adults and 5-10 % of intracranial tumors in children. The annual incidence ranges from 0.13 to 2 per 100,000 population per year with no gender predilection. Due to its unique anatomical locations, the most frequently reported clinical manifestations are headache, visual impairment, nausea/vomiting, and endocrine deficiencies resulting in sexual dysfunction in adults and growth failure in children. Growth hormone deficiency is the most predominant endocrinological disturbance associated with craniopharyngioma. Computed tomography (CT) is gold standard to detect calcifications in CP tissue (found in 90 % of these tumors). Magnetic Resonance Imaging (MRI) further characterizes craniopharyngiomas and helps to narrow down the differential diagnoses. In almost all craniopharyngioma cases, surgery is indicated to: establish the diagnosis, relieve mass-related symptoms, and remove as much tumor as is safely possible. Recent neurosurgical technical advances, including innovative surgical approaches, detailed radiotherapy protocols, targeted therapy, replacement of lost hormonal functions and quality of life all have the potential to improve the outcome of patients with craniopharyngioma. In this article, we present extensive literature on craniopharyngioma clinical presentation, radiological findings, management, and future prospective. The present article helps to identify further research areas that set the basis for the management of such a complex tumor.

Giant Ganglioneuroma of the Lumbar Spine: A Rare Cause of Radiculopathy.

Background: Ganglioneuroma (GN) is a rare, benign tumor that originates from neural crest cells and can potentially affect any anatomical site within the sympathetic nervous system. Typically, GNs are more frequently reported in children and young adults, with a slightly higher prevalence in females. We are reporting a rare case of a giant lumbar spine ganglioneuroma by outlining the clinical presentation, radiological finding, management, and outcome. Case Description. A 37-year-old female presented with low back pain radiating to the right lower limb for few years. Neurological examination revealed bilateral lower limb hyperreflexia (+3). Lumbar spine CT and MRI revealed a right paravertebral soft tissue lesion with heterogeneous signal intensity and enhancement at L1 to L3. The patient underwent complete resection of the lesion via a retroperitoneal approach. The surgery was uneventful. The histopathological sections were suggestive of mature ganglioneuroma. She was discharged in stable condition with follow-up at neurosurgery clinic. Conclusion: Giant ganglioneuromas are rare, benign tumors of sympathetic neurons. Complete surgical resection is the most effective therapeutic option for ganglioneuroma to avoid recurrence. Given the benign nature of ganglioneuroma, chemotherapy and radiotherapy tend to have a limited role following surgical resection.

Concurrent medulloblastoma and cardiac fibroma: a rare presentation of Gorlin-Goltz syndrome.

BACKGROUND: Gorlin-Goltz syndrome is a rare autosomal dominant disorder resulting from PTCH1 gene mutation and presents with variable clinical manifestations. The co-occurrence of medulloblastoma and cardiac fibroma in Gorlin-Goltz syndrome is extremely rare. The present article discusses a patient diagnosed with Gorlin-Goltz syndrome and concurrent medulloblastoma and cardiac fibroma. CASE PRESENTATION: A 19-month-old boy transferred to our hospital after a radiological finding of posterior fossa lesion and hydrocephalus. A pericardial mass was noted after persistent arrhythmias. Both tumors were excised for definitive management. The histopathological sections were diagnostic of desmoplastic nodular medulloblastoma, WHO grade 4 and cardiac fibroma. Molecular and genetic investigations confirmed a pathogenic variant of PTCH1 gene, suggestive of autosomal dominant Gorlin-Goltz syndrome. CONCLUSION: Co-occurrence of medulloblastoma and cardiac fibroma is extremely rare and poses a management dilemma. Genetic counseling and antenatal screening are of utmost importance to early detect and manage patients with Gorlin-Goltz syndrome.

Rhino-Orbital-Cerebral Mucormycosis: A Rare Complication of Uncontrolled Diabetes.

Introduction: Fungal infection of the central nervous system has become more common over the past two decades. It is frequently diagnosed in patients with underlying pathological conditions. We herein report a case of rhino-orbital-cerebral mucormycosis by outlining the clinical presentation, radiological images, histopathological findings, management plan, and its clinical outcome. Case Description. A 47-year-old man, known to have type 2 diabetes mellitus, presented with severe headache involving the left side of the face, numbness along the left V2 trigeminal nerve, ptosis and dryness of the left eye, short-term memory loss, and right hand numbness. He had a social history of being a bee farmer for which he was exposed to bee stings several times in the past. Neuroradiological imaging showed a left temporal ring-enhancing lesion, suggestive of abscess. The patient underwent craniotomy and resection of the lesion. The histopathological evaluation was suggestive of cerebral mucormycosis, fungal sinusitis, and invasive skull base mucormycosis. Conclusion: Rhino-orbital-cerebral mucormycosis is a fulminant fungal infection commonly diagnosed in patients with uncontrolled diabetes. Early diagnosis with radiological and histopathological evaluation is required to identify patients at risk of rhino-orbital-cerebral mucormycosis.

Myocardial Infarction in a 7-Year-Old Girl with Polyarteritis Nodosa.

Polyarteritis nodosa (PAN) is a rare systemic vasculitis that affects small to medium-sized arteries. It could affect any organ including the heart. However coronary artery involvements are very rare. We describe a young girl who presented following a histopathological diagnosis of PAN with acute chest pain, high serum troponin, and progressive ischemic changes in the electrocardiogram (ECG). Induction of remission of her disease was done with six-moths Cyclophosphamide infusions and pulse corticosteroids. In addition to anticoagulation and dual antithrombotic therapy, the disease remission was maintained with mycophenolate mofetil which helps in the recovery of coronary disease. Our case illustrates the serious cardiac involvement of PAN in a child that responded to intensive management.

Primary spinal cord glioblastoma: A rare cause of paraplegia.

Background: Primary spinal glioblastomas are extremely rare neoplasms and account for only 0.2% of glioblastoma cases. Due to the rare incidence of spinal cord glioblastoma in the literature, its natural history/ outcome remains undetermined. The present article describes the clinical presentation, radiological/pathological characteristics, and outcome of the primary spinal cord glioblastoma. Case Description: Two young patients initially presented with paresis that rapidly progressed to paraplegia. Nondermatomal sensory deficits were also noted, mainly affecting the lower limbs. Neuroradiological imaging revealed an extensive intramedullary spinal cord lesion, with no evidence of concurrent intracranial space-occupying lesions. Thoracic laminectomy, followed by tumor debulking and/or biopsy, was performed. The histomorphology was suggestive of glioblastoma, the World Health Organization grade 4 (Isocitrate Dehydrogenase-wild type). They were discharged in stable condition and were started on chemoradiotherapy, with clinicoradiological follow-up. One patient passed away after 9 months of initial presentation. The other patient was alive at 6-month follow-up. Conclusion: Primary spinal glioblastoma is a rare and challenging tumor. Patients commonly present with a progressive paresis, resulting in paraplegia, regardless of the surgical resection extent, and received adjuvant chemotherapy. Therefore, primary spinal cord glioblastoma should be considered in patients reporting a rapid lower limb weakness with neuroradiological evidence of extensive, exophytic intramedullary lesion of the spine. A biopsy-proven histopathological diagnosis is of indisputable importance to establish the final diagnosis and plan treatment options.

Sellar xanthogranuloma: A diagnostic challenge.

Background: Sellar xanthogranulomas are rare intracranial lesions comprising <1% of all sellar lesions. They were described as a separate entity by the World Health Organization in 2000. Because of the paucity of sellar xanthogranuloma cases reported in the literature, they remain a diagnostic challenge with indefinite origin, clinical course, and outcome. The present study reports a case of sellar xanthogranuloma describing the clinical presentation, radiological/pathological characteristics, and outcome. Case Description: A 43-year-old female, known to have diabetes, hypothyroidism, and polycystic ovarian syndrome, presented with a 2-week history of sudden right-sided facial deviation, periorbital pain, and moderate-intensity headache. The patient also reported amenorrhea not improving with polycystic ovarian syndrome treatment. Neurologic examination showed bilateral visual field defects and impaired visual acuity. Computed tomography scan, without contrast, revealed a hypodense sellar lesion with areas of hyperdensity. Magnetic resonance imaging showed a well-defined sellar lesion, exhibiting high signals on T1-weighted and T2-weighted images. The patient underwent microscopic trans-nasal trans-sphenoidal excision of the lesion. Histological sections of the sellar lesion revealed fibrous connective tissue with chronic inflammatory cells and cholesterol clefts, suggestive of xanthogranuloma. The patient is currently followed up at neurosurgery, endocrinology, and ophthalmology clinics with periodic laboratory/radiological investigations. Conclusion: Sellar xanthogranulomas remain rare intracranial lesions with few cases reported in the literature. Patients mostly present with severe hypopituitarism and visual dysfunction. They show no characteristic radiological features. The diagnosis is confirmed histopathologically, and the prognosis is generally favorable.

Idiopathic thoracolumbar spinal epidural arachnoid cysts: A case report and systematic review.

Background: Idiopathic spinal epidural arachnoid cysts (SEACs) are rare and may cause myelopathy and cord compression. They typically arise from a congenital defect in the dura that communicates with the intrathecal subarachnoid space. Although the ideal treatment of SEACs is direct dural repair and cyst excision, there is as yet no clear standard of care for the management of these lesions. Methods: A 47-year-old female presented with myelopathy attributed to an magnetic resonance imaging-documented posterior epidural T12-L2 cyst (i.e., 1.1 × 6 × 3.3 cm) lesion. The patient underwent a direct dural repair of the fistulous communication between the subarachnoid space and the cyst, along with cyst drainage/ excision through a right-sided laminotomy. Postoperatively, the patient was asymptomatic. We additionally reviewed the literature regarding the management of SEACs. Results: Our review yielded 14 articles involving 18 patients with predominantly thoracolumbar (57%) SEACs that were either communicating (61%) or not communicating (39%) with the subarachnoid space. They averaged 35.5 years of age and exhibited a male preponderance (66%). Symptoms typically included pain (78%), followed by weakness/myelopathy (42%). Surgery frequently included bilateral laminectomies (57%) followed by unilateral laminectomies (50%) that typically resulted in symptom resolution. Conclusion: SEACs are rare typically thoracolumbar lesions that may cause myelopathy which resolves following direct dural closure/subarachnoid fistulous occlusion.

Spectrum of medulloblastoma subtypes and frequency of MYC amplification; Experience from a tertiary care center in Saudi Arabia.

OBJECTIVE: To clarify the spectrum of morphological and molecular subtypes of medulloblastoma (MBL), in addition to MYC and MYCN amplification statuses in a cohort of Saudi patients. The latter was correlated with patient outcome. METHODS: We conducted a retrospective cohort study of 57 patients with MBL, diagnosed at the central laboratory of King Abdulaziz Medical City in Riyadh, Saudi Arabia, between 2006 and 2019. Molecular analysis for MYC and MYCN amplification was performed for the 19 most recently diagnosed patients. RESULTS: Classic MBL was the most prevalent histologic subtype and MBL with extensive nodularity was the rarest. The non-WNT/non-SHH molecular subgroup was the most common while the WNT-activated was the least common. Among 19 patients analyzed, MYC and MYCN amplifications were discovered in 2 (10.5%) and 1 (5.3%) cases, respectively, using interphase fluorescence in-situ hybridization. The 2 MYC amplified cases belonged to the large cell/anaplastic subtype and had the worst outcomes. CONCLUSION: The MYC amplification corresponded with poor prognosis, the large cell/anaplastic variant of MBL, and the non-WNT/non-SHH molecular subtype.

Chondro-Osseous Metaplasia in Ependymoma: A Rare Histopathological Finding.

Ependymoma is a circumscribed glioma composed of uniform glial cells with bland nuclei in a fibrillary matrix. It is characterized by the presence of perivascular pseudorosettes. Unusual histopathological findings have rarely been reported in ependymomas, 0.5% of all diagnosed cases. Such unusual and exceedingly rare histological findings include osseous or chondroid metaplasia. To the best of our knowledge, only 15 cases of osseocartilaginous ependymomas have been reported in English literature. We report a 3-year-old boy who presented with ataxia, vomiting, and headache for three months. Radiological imaging revealed a posterior fossa lesion. Histopathological examination of the lesion confirmed a posterior fossa ependymoma with chondro-osseous metaplasia. The present case outlines the clinical presentation, histopathological findings, and outcome of chondro-osseous metaplasia in ependymomas. To date, the etiology of chondro-osseous metaplasia in ependymomas remains uncertain. Further research exploring such phenomenon is of paramount importance to explain how these tumors develop.

Whole slide imaging compared with light microscopy for primary diagnosis in surgical neuropathology: a validation study.

BACKGROUND: Digital pathology practice is rapidly gaining popularity among practicing anatomic pathologists. Acceptance is higher among the newer generation of pathologists who are willing to adapt to this new diagnostic method due to the advantages offered by whole slide imaging (WSI) compared to traditional light microscopy (TLM). We performed this validation study because we plan to implement the WSI system for diagnostic services. OBJECTIVES: Determine the feasibility of using digital pathology for diagnostic services by assessing the equivalency of WSI and TLM. DESIGN: A laboratory-based cross-sectional study. SETTING: Central laboratory at a tertiary health care center. MATERIALS AND METHODS: Four practicing surgical pathologists participated in this study. Each pathologist blindly reviewed 60 surgical neuropathology cases with a minimum 8-week washout-period between the two diagnostic modalities (WSI vs. TLM). Intraobserver concordance rates between WSI and TLM diagnoses as compared to the original diagnosis were calculated. MAIN OUTCOME MEASURES: Overall intraobserver concordance rates between each diagnostic method (WSI and TLM) and original diagnosis. SAMPLE SIZE: 60 in-house surgical neuropathology cases. RESULTS: The overall intraobserver concordance rate between TLM and original diagnosis was 86.3% (range 76.7%-91.7%) versus 80.8% for WSI (range 68.3%-88.3%). These findings are suggestive of the superiority of TLM, but the Fleiss' Kappa statistic indicated that the two methods are equivalent, despite the low level of the K value. CONCLUSION: WSI is not inferior to the light microscopy and is feasible for primary diagnosis in surgical neuropathology. However, to ensure the best results, only formally trained neuropathologists should handle the digital neuropathology service. LIMITATIONS: Only one diagnostic slide per case rather than the whole set of slides, sample size was relatively small, and there was an insufficient number of participating neuropathologists. CONFLICT OF INTEREST: None.

Ki-67 labeling index in glioblastoma; does it really matter?

OBJECTIVE/BACKGROUND: Glioblastoma (GB) is the most common primary malignant brain tumor in adults. Ki-67 is a nonhistone nuclear protein that is expressed by cells entering the mitotic cycle and is associated with the transcription of ribosomal RNA (rRNA). In gliomas, the extent of expression of Ki-67 is roughly proportional to the histologic grade. Over the years, association studies were conducted trying to link the poor outcome in different types of malignant tumors to the Ki-67 proliferative index. This study is designed to investigate the relationship between the proliferation marker, Ki-67, and the overall survival amongst glioblastoma patients diagnosed between 2006 and 2012 at a single institution in Riyadh, Saudi Arabia. METHODS: This is a retrospective cohort study which investigated the status of Ki-67 labeling index in glioblastoma patients diagnosed at King Abdulaziz Medical City, Riyadh, Saudi Arabia, between 2006 and 2012. The Kaplan-Meier survival analysis was used to assess the overall survival (OS) and the Mantel-Cox log-rank test was used to compare the survival curves. Multivariate analysis using Cox proportional-hazards model was used to investigate other factors that might influence the overall survival. RESULTS: A total of 44 glioblastoma patients were included in the study. The median age at diagnosis was 56 (1-91) years. The 12-month survival rate for all glioblastoma patients was 48%. The median survival for patients with Ki-67 labeling index of ≤27%, and >27% was 11 months and 14 months, respectively. CONCLUSION: The difference between the survival curves of patients with Ki-67 labeling index of ≤27%, and Ki-67 of >27% was statistically insignificant (p = .130). Therefore, Ki-67 labeling index alone cannot predict survival in glioblastoma patients.

Primary Ewing's sarcoma of the kidney: A case report.

This is a 15-year-old female who presented with sudden onset left flank pain associated with nausea and vomiting and a history of weight loss. Radiological investigation revealed a large non-obstructive tumor involving the lower pole of the left kidney which was primarily thought to be a renal cell carcinoma. She underwent left open radical nephrectomy with adrenalectomy. Histopathology of the resected specimen showed features of Ewing's sarcoma of the kidney which was confirmed by cytogenetic analysis. This is a rare disease especially in the pediatric group and in reporting such a rare case we hope it helps in identifying a potential course of the disease and its response to the involved treatment.