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.

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.

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.

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.

O6-methylguanine-DNA methyltransferase promoter methylation and isocitrate dehydrogenase mutation as prognostic factors in a cohort of Saudi patients with glioblastoma.

BACKGROUND: Treatment of glioblastoma (GB), the most common malignant primary brain tumor in adults, can include alkylating chemo-therapeutic agents. Two molecular biomarkers of treatment response are MGMT (O6-methylguanine-DNA methyltransferase) promoter methylation and IDH (isocitrate dehydrogenase) mutations, which prevent repair of tumor cell DNA damage caused by alkylating chemotherapy. The status of MGMT promoter methylation and IDH mutation are associated with longer survival and a better response to chemotherapy. OBJECTIVE: Assess the prognostic value of MGMT methylation status and IDH mutation in adult Saudi glioblastoma patients. DESIGN: Retrospective, comparative survival analysis. SETTING: Tertiary care center. PATIENTS AND METHODS: The status of the MGMT promoter methylation and IDH mutation was assessed in adult patients diagnosed with GB between 2006 and 2019. A PCR-based assay was used to analyze for methylation of the MGMT promoter. A qualitative assay combining PCR clamping and amplification refractory mutation system technology was used to search for any of the 12 most common mutations in IDH1 and IDH2. Differences in survival were compared between those with and without MGMT promoter methylation and IDH mutation and between other subgroups. MAIN OUTCOME MEASURES: Survival of GB patients relative to MGMT promoter methylation and IDH mutation status. SAMPLE SIZE: 146 patients (80 males and 66 females). RESULTS: Of 43 (29.5%) cases tested for MGMT promoter methylation, 14 (32.5%) were positive. Of 65 (44.5%) cases screened for IDH mutation, 6 cases (9.2%) tested positive. The 36-month survival rate was 47% for the MGMT methylated cohort compared to 27% for their unmethylated counterparts. The 18-month survival rate for the IDH-mutant was 75% compared to 48% for their IDH-wildtype counterparts. CONCLUSION: The findings confirm the positive impact of both MGMT promoter methylation and IDH mutation on the overall survival of Saudi GB patients. LIMITATIONS: Single institute study with relatively few tested cases. CONFLICT OF INTEREST: None.

Unusual Presentation of Fibrous Dysplasia in an Elderly Patient.

Fibrous Dysplasia is a benign fibro-osseous lesion occurring throughout the skeletal system with a predilection for craniofacial bones, long bones, and ribs. Fibrous dysplasia develops during bone formation and growth with a variable natural evolution. It is considered a genetic nonheritable disease resulting from missense mutations that occur postzygotically in the GNAS1 gene. This mutation leads to a focal congenital failure of proper bone formation and arrest at the woven bone stage. In turn, this leads to a decreased mechanical strength, causing bone pain, pathological fractures, and skeletal deformities. Besides clinical examination, fibrous dysplasia is diagnosed based on the results of radiographic imaging and the microscopic histopathological findings. On CT scan, fibrous dysplasia shows the characteristic "Ground-glass" appearance with well-defined borders. On MRI, fibrous dysplasia has a low signal intensity on T1-weighted MRI and variable signal intensity on T2-weighted MRI. We hereby report a case of an unusual presentation of fibrous dysplasia in a 67-year-old female presenting to the emergency department with generalized malaise and lower limb pain. Fibrous dysplasia may present in the elderly population and can be difficult to differentiate from other malignant and benign lesions affecting the skeletal system.

Meningioma Presenting with Spontaneous Subdural Hematoma: A Report of Two Cases and Literature Review.

BACKGROUND: Although meningiomas are considered benign, encapsulated brain tumors, their distinct intracranial location can lead to devastating complications. Although a highly vascularized tumor, a rarely reported complication of meningioma is hemorrhage. To the best of our knowledge, only 19 cases of meningioma presenting with a subdural hematoma have been reported. CASE DESCRIPTION: We have outlined the clinical presentation, radiological findings, and outcomes of 2 female patients with a diagnosis of a spontaneous subdural hematoma associated with meningioma. The coagulation profile was within normal limits for both patients. The postoperative histopathologic examination results showed an angiomatous/microcystic subtype of meningioma (patient 1) and meningothelial meningioma (patient 2). Both patients underwent right frontal craniotomy, resection of the dural-based tumor, and evacuation of the subdural hematoma. CONCLUSIONS: We comprehensively reviewed the pertinent data for meningiomas presenting as subdural hematomas. The mechanism of hemorrhage in meningiomas remains unclear. Therefore, further studies are required to investigate the possible mechanisms of bleeding in such tumors.

Glioblastoma and prolactinoma: a rare simultaneous occurrence.

The simultaneous development of two or more primary central nervous system (CNS) tumors of different cell types represents 0.9% of all diagnosed CNS tumors. To the best of our knowledge, the simultaneous occurrence of glioblastoma and pituitary adenomas has been reported four times in the English literature, with only two cases harboring prolactinoma and glioblastoma. We report a case of a 42-year-old male who was diagnosed with a sporadic co-occurrence of glioblastoma and a prolactin-secreting pituitary adenoma (prolactinoma). This case report discusses the clinical presentation, radiological/histopathological features, and outcome as well as reviewing the pertinent medical literature. Glioblastoma and a prolactin-secreting adenoma may be detected within the same patient. Further studies are required to delineate the tumorigenesis of the development and co-occurrence of multiple intracranial tumors.

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.

Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia.

Dysferlinopathies encompass a group of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle. It is a genetic disorder caused by a mutation in the dysferlin gene (DYSF) with an autosomal recessive mode of inheritance. In this article, we report a case of Limb-girdle muscular dystrophy type 2B with a rare homozygous duplication c.164dupA, p.(Ile57Hisfs*8) (rs863225020) in DYSF in a Saudi patient. To the best of our knowledge, this is the first case from Saudi Arabia with complete clinical data, pathology findings, radiology findings, and genetic analysis. Although there is no curative treatment for this disease, an accurate diagnosis is important to avoid using steroids and immunosuppressive medications, which are not effective and may have several side effects. Further studies are needed to explore potential therapies for this rare condition.