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.

Sporadic subependymal giant cell astrocytoma with somatic TSC2 mutation: A case report.

Subependymal giant cell astrocytoma (SEGA) is a rare circumscribed astrocytic glioma that occurs in approximately 25% of all tuberous sclerosis (TSC) cases. Herein, we discuss an atypical presentation of SEGA, including the genetic alterations, impact on clinical presentation, and the determinants of each medical and surgical treatment option. A 14-year-old girl presented with intermittent headache and a right intraventricular mass originating near the foramen of Monro. The tumor's proximity to critical structures necessitated maximum safe resection, which improved her symptoms. Histological findings indicated SEGA, and genetic sequencing revealed a TSC2 mutation. However, complete clinical and radiological evaluations failed to reveal TSC. Two months later, a new subependymal nodule was incidentally found. She had a recurrent left occipital horn lesion and diffuse smooth leptomeningeal enhancement with no spine drop metastases. She was administered everolimus as the tumor was considered unresectable. Subsequent imaging revealed a reduction in both residual and new lesions.

Implementation of Enhanced Recovery After Surgery protocols for gastrostomy tube insertion in patients younger than 14 years of age: a retrospective cohort study.

BACKGROUND: Enhanced recovery after surgery (ERAS) protocols have improved treatment outcomes and have standardized patient care. OBJECTIVES: Identify the benefit of introducing the ERAS protocol for feeding after gastrostomy insertion with or without Nissen fundoplication, the effects on the time of reaching the full feeds the length of stay single-center experience, and complications associated with early feeding protocols. DESIGN: Retrospective cohort study SETTING: Tertiary hospital METHODS: The study review included cases performed between 2015 and 2021 by four surgeons, and cases performed in 2022 by all surgeons using ERAS feeding protocol (P) in a tertiary hospital. MAIN OUTCOME MEASURES: Comparison the mean and mode of the length of stay (LOS) and the time until the patient reached full feed (TFF). SAMPLE SIZE: 224 patients; 181 by the four surgeons and 43 cases by the ERAS protocol group. RESULTS: The difference in the ERAS protocol from the four surgeons in TFF and LOS was statistically significant (P<.001). There was no noticeable difference in postoperative complications after introducing the ERAS protocol. CONCLUSION: ERAS improved the TFF and decreased the LOS without any increase in procedure complications. Increasing bed utilization and reducing costs were two benefits of reducing LOS at our hospital. LIMITATIONS: Single-center study, which may not be generalizable. Multiple comorbidities. Travel time from different parts of the country could impact LOS. Retrospective and thus dependent on the accuracy of the information in file notes. CONFLICT OF INTEREST: None.

Juvenile ossifying fibroma in anterior ethmoidal sinus in B-cell acute lymphoblastic leukemia and MHC class II deficiency patient: Case report.

INTRODUCTION AND IMPORTANCE: Juvenile ossifying fibromas (JOF) are rare benign tumors affecting the craniofacial area, and they present more in younger age groups. JOFs are aggressive lesions and have a high tendency for recurring after surgical resection. CASE PRESENTATION: A 9-years-old female who was a known case of major histocompatibility complex class II deficiency since birth and post hematopoietic stem cell transplant was diagnosed with B-cell acute lymphoblastic leukemia (ALL). Right anterior ethmoidal sinus opacification with mucosal thickening found on sinus imaging was initially thought to be infectious in origin due to the patient's immunodeficiency. However, further investigation and endoscopic sinus surgery with lesion debridement and biopsy revealed psammomatoid JOF. Follow up and imaging results urged the need for a second surgery, but no recurrence was detected. As the patient's ALL was being treated, the case was followed up for two months with imaging showing opacification in multiple sinuses which was suspected to be fungal infection due to immunodeficiency. The complicated character of the case may have hindered any additional invasive management. Opacification persisted despite conservative management. Unfortunately, the patient suffered from disease complication, infections, and died from multi-organ failure. CLINICAL DISCUSSION: This case highlights the importance of a thorough diagnostic workup and management strategy for immunodeficient patients with JOF. JOF's recurrent nature along with the pre-existing immunodeficiency made this case difficult to manage as the patient had other life-threatening condition. CONCLUSION: Specific management considerations should take place in immunocompromised patients. Post-operative long-term follow-ups are needed for early detection of recurrence.

Laparoscopic extraction of a migrated pacemaker in a 6-year-old child: A case report.

The laparoscopic approach can provide a safe option with good results for extracting an uncomplicated migrated pacemaker in children.

Clinicopathologic and genomic characterizations of brain metastases using a comprehensive genomic panel.

Central nervous system (CNS) metastasis is the most common brain tumor type in adults. Compared to their primary tumors, these metastases undergo a variety of genetic changes to be able to survive and thrive in the complex tissue microenvironment of the brain. In clinical settings, the majority of traditional chemotherapies have shown limited efficacy against CNS metastases. However, the discovery of potential driver mutations, and the development of drugs specifically targeting affected signaling pathways, could change the treatment landscape of CNS metastasis. Genetic studies of brain tumors have so far focused mainly on common cancers in western populations. In this study, we performed Next Generation Sequencing (NGS) on 50 pairs of primary tumors, including but not limited to colorectal, breast, renal and thyroid tumors, along with their brain metastatic tumor tissue counterparts, from three different local tertiary centers in Saudi Arabia. We identified potentially clinically relevant mutations in brain metastases that were not detected in corresponding primary tumors, including mutations in the PI3K, CDK, and MAPK pathways. These data highlight the differences between primary cancers and brain metastases and the importance of acquiring and analyzing brain metastatic samples for further clinical 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.

Metastatic brain lesion as the initial presentation of follicular thyroid carcinoma.

Background: Metastatic brain lesions, of thyroid origin, are rare manifestations of differentiated thyroid cancer, with papillary thyroid carcinoma being the most common subtype. Considering the rarity of metastatic follicular thyroid carcinoma to the brain, the present article outlines its clinical presentation, neuroradiological findings, pathological features, and outcome. Case Description: A 52-year-old female presented with a 6-month history of progressive and holocephalic headache. Examination revealed a tracheal deviation to the left side due to an enlarged goiter. Brain CT scan showed a right occipital, slightly hyperdense lesion associated with a 0.4 cm midline shift to the left side. Brain MRI demonstrated a right occipital, avidly-enhancing, extra-axial lesion with disproportionate and extensive vasogenic edema. As the lesion was solitary, the patient underwent craniotomy and tumor resection. Histopathological examination revealed a tumor consistent of small follicles, composed of uniform round nuclei without papillary thyroid carcinoma nuclear features, suggestive of metastatic follicular thyroid carcinoma to the brain. Postoperatively, the patient was neurologically intact. She was discharged in a stable condition with laboratory/ radiological investigations and follow-up at neurosurgery, endocrine, radiotherapy, and thyroid surgery clinics. Conclusion: Follicular thyroid carcinoma may rarely metastasize to the central nervous system. A high index of suspicion is required to identify patients with thyroid cancer who initially present with neurological manifestations. Complete surgical resection of the metastatic brain lesion is safe, feasible and is associated with a prolonged overall survival.

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.

Progressive Multifocal Leukoencephalopathy Misdiagnosed as Neuropsychiatric Systemic Lupus Erythematosus With a Catastrophic Outcome.

INTRODUCTION: Progressive multifocal leukoencephalopathy (PML) is a rare infection of the central nervous system due to the reactivation of the John Cunningham polyomavirus. It is commonly a progressive fatal disease with worldwide distribution. CASE REPORT: We describe a rare case of PML, which was misdiagnosed as neuropsychiatric systemic lupus erythematosus (SLE) with a catastrophic outcome due to delay in diagnosis with superadded cyclophosphamide therapy. CONCLUSION: There are several lessons taught from our case. Firstly, in patients with autoimmune disorders who are strongly immunosuppressed, the new onset of cognitive impairment and seizures should alert the treating physician to look carefully for PML. Secondly, in cases of SLE where the diagnosis of the cause of cognitive impairment and seizures is not clear, we suggest that immunosuppression should not be intensified until PML has clearly been ruled out. Lastly, multidisciplinary care in patients with suspected neuropsychiatric SLE including a neurologist, an infectious diseases consultant, a neuroradiologist, and a rheumatologist is needed.

Endoscopic versus Open Microsurgical Excision of Colloid Cysts: A Comparative Analysis and State-of-the-Art Review of Neurosurgical Techniques.

BACKGROUND: The surgical approaches of colloid cysts commonly include endoscopy or open microsurgery. Each approach carries its own challenges, feasibility, and complications. The aim of the current study is to compare endoscopic versus open microsurgical excision of third ventricular colloid cysts. METHODS: A retrospective cohort study was conducted to compare the surgical outcomes of endoscopic versus open microsurgical (transcortical-transventricular and transcallosal approaches) excision of colloid cyst of the third ventricle at a tertiary-care medical institute. All patients with a neuroradiologic diagnosis of colloid cyst who subsequently underwent surgical management between January 2003 and June 2020 were included. The neurologic outcome was assessed at the last follow-up visit. RESULTS: A total of 32 patients with colloid cysts were included in the study. The mean age was 35.8 ± 18.3 years (range, 4-75 years). Female patients slightly outnumbered male patients (n = 17; 53.1%). A total of 21 patients (65.6%) underwent endoscopic resection of the colloid cyst. Complications were encountered in 7 patients (endoscopic, n = 3; microsurgery, n = 4; P = 0.151). Recurrence was identified in 4 patients (endoscopic, n = 3; microsurgery, n = 1; P = 0.673). Most patients improved neurologically on follow-up visits to the clinic (endoscopic, n = 19; microsurgery, n = 9; P = 0.482). CONCLUSIONS: Both endoscopic and microsurgical approaches provide favorable surgical outcomes in colloid cyst resection. The complication rates between both approaches is statistically insignificant. The optimal surgical approach for colloid cyst resection remains controversial.

Decompressive craniectomy as a lifesaving intervention for acute disseminated encephalomyelitis (ADEM).

Acute disseminated encephalomyelitis (ADEM), is an immune-mediated demyelinating disease of the central nervous system that commonly affects children and young adults of both sexes. Hyperacute variants of ADEM represent 2% of cases and are associated with rapid progression of symptoms, malignant brain edema, and high mortality rates. We report a case of a young woman presenting with a hyperacute storming course of few days who was managed with pulse steroid therapy and emergency craniectomy with an excellent outcome. We believe that our patient's acute clinical deterioration and findings on neuroimaging warranted prompt neurosurgery. Although treatment with immunomodulatory medications was commenced, the severity of her condition indicated that only surgical intervention was likely to be lifesaving. We recommend immediate neurosurgical consultation to consider prompt decompressive craniectomy in hyperacute variants with significant brain swelling. Multidisciplinary care including neurologist, neuroradiologist, neurosurgeon, neuropathologist, and neurointensivist is the only way to achieve success and improve survival in patients presenting with hyperacute ADEM.

WNT-activated Pediatric Medulloblastoma Associated With Metastasis to the Suprasellar Region and Hypopituitarism.

We report on a rare association of WNT-activated medulloblastoma with metastasis to the suprasellar region. Medulloblastoma is the commonest brain tumor in children, and the most common pattern of metastatic disease is that of leptomeningeal involvement and spinal metastasis. Historically, medulloblastoma patients were categorized into different risk groups on the basis of age, histology, size of residium after surgery, and metastatic status, but the discovery of at least 4 molecular subgroups has changed the way these tumors are now treated. We report a 6-year-old patient who had a rare association of WNT-activated medulloblastoma with suprasellar metastasis and went on to develop hypopituitarism during the course of treatment. He remains alive 1 year after completing treatment.

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.

Pseudotumor of hemophilia of the thumb.

[No Abstract Available].

The spectrum of muscle pathologies: Three decades of experience from a reference laboratory in Saudi Arabia.

BACKGROUND: When investigating patients with a suspected neuromuscular disorder, a muscle biopsy is considered an instrumental tool to reach a definitive diagnosis. There is a paucity of publications that assess the diagnostic utilization and yield of muscle biopsies. We intend to present our experience in this regard over an extended period of more than three decades. METHODS: This is an observational retrospective cohort study in which we collected pathology reports for muscle biopsies diagnosed at our reference lab between 1986 and 2017. RESULTS: We identified a total of 461 cases of muscle biopsy performed, which fulfilled the inclusion criteria. Pediatric cases defined as ≤14 years of age constituted a significant proportion of cases (n = 275, 60%). Normal biopsies were reported in 27% of cases (n = 124), and in 4%, the biopsies were non-diagnostic. The most common pathologies reported were non-specific myopathy (n = 72, 16%), dystrophy (n = 71, 15%), and neurogenic disorders (n = 60, 13%). CONCLUSION: In conclusion, the muscle biopsy will continue to play a crucial role, as a gold standard or as a complementary investigation, in the diagnosis of certain neuromuscular disorders. Increasing the yield and accuracy of muscle pathology should be the main concern and priority to neuropathologists reporting muscle biopsies. In addition, utilizing next-generation sequencing and other molecular techniques have changed the location of muscle biopsy in the algorithm of the diagnosis of neuromuscular disorders. This paper is an urgent call to establish the Saudi Neuropathology Society and the muscle pathology and neuromuscular disorders registry.

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.

Idiopathic myositis ossificans of the deltoid muscle: A case report with unique presentation and MRI findings.

INTRODUCTION: Myositis ossificans of the deltoid muscle is extremely rare. We present a case with unique presentation and MRI findings. CASE REPORT: A 21-year-old female presented with a 3-month history of a swelling in lateral aspect of the right arm. There was no history of trauma, injection, or surgery to the area. Examination showed a 3 × 3 cm firm mass in the deltoid muscle. MRI findings were suggestive of myxoma. Surgical excision was done and histopathology showed the classic features of myositis ossificans. There was no recurrence at the final follow-up 7 months later. DISCUSSION: Myositis ossificans of the deltoid muscle is very rare with only 6 cases previously reported in the literature. Our case is unique in presentation because it is the first case reported with no history of trauma, Injection, sickness or surgery in the area. We also review the literature for MRI features of Myositis ossificans and show that our case has a unique pattern. CONCLUSION: We report on a rare case of Myositis ossificans of the deltoid muscle and review of the literature for similar cases and MRI features of Myositis ossificans. We show that our case was unique both in presentation and MRI finding.