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Background: The third ventricle colloid cyst (CC) is a benign growth usually located in the third ventricle and can cause various neurological symptoms, including sudden death. Modern surgical interventions may still result in a wide range of complications and cerebral venous thrombosis (CVT) is among them. Case Description: A 38-year-old female with an existing diagnosis of diabetes mellitus (DM) and hypothyroidism and a 6-month history of headaches, blurred vision, and vomiting presented to our clinic 3 days after the headaches became excessively severe. Neurological examination on admission revealed bilateral papilledema without any associated focal neurological deficits. Brain computed tomography and magnetic resonance imaging confirmed the presence of a third ventricle CC and associated non-communicating hydrocephalus involving the lateral ventricles. As a result, the patient underwent emergency bilateral external ventricular drainage (EVD) insertion followed by a third ventricular CC excision under neuronavigation through a right frontal craniotomy. Twelve days postoperatively, the patient developed further headaches followed by a generalized tonic-clonic seizure that led to no postictal neurological deficits. Nonetheless, computed tomography venography of the brain revealed extensive thrombosis of the superior sagittal sinus, inferior sagittal sinus, right sigmoid sinus, and right internal jugular vein. A newly diagnosed CVT was treated with intravenous heparin. The patient was discharged with warfarin, which was discontinued after 12 months. Ten years after her illness, she remained stable and free from any neurological deficits but still suffered from chronic mild headaches. Conclusion: A preoperative venous study should be performed in all cases to gain a better understanding of the venous anatomy. We advocate meticulous microsurgical techniques to protect the venous system surrounding the foramen of Monro and reduce the amount of retraction during surgery.
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The clinical behaviors, prognosis, and appropriate treatments of papillary tumors of the pineal region (PTPR) are not fully defined due to the rarity of these tumors. At diagnosis, PTPR may present with clinical symptoms, including headache with obstructive hydrocephalus, diplopia, vomiting, and lethargy, as well as neurological signs, including Argyll Robertson pupils and Parinaud's syndrome due to compression of the dorsal midbrain, specifically the periaqueductal region with horizontal nystagmus. Radiological assessment of pineal region lesions is challenging, with a wide range of potential differential diagnoses. PTPR typically presents as a heterogeneous, well-circumscribed mass in the pineal region, which might contain cystic areas, calcifications, hemorrhages, or protein accumulations. Here, we report three female pediatric patients with PTPR treated in King Fahad Medical City (KFMC) in Saudi Arabia. Histological and immunohistochemical diagnosis was confirmed by analysis of genome-wide DNA methylation profiles. This case series expands on the available reports on the clinical presentations of PTPR and provides important information on the responses to different treatment modalities.
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Neoplasias Encefálicas , Glándula Pineal , Pinealoma , Humanos , Femenino , Niño , Pinealoma/diagnóstico por imagen , Pinealoma/terapia , Neoplasias Encefálicas/diagnóstico , Glándula Pineal/diagnóstico por imagen , Glándula Pineal/metabolismo , Glándula Pineal/patologíaRESUMEN
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.
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Frequently the cause of raised intracranial pressure remains unresolved and rarely is related to spinal tumours, moreover less to spinal medulloblastoma without primary brain focus. An 18-year-old woman had a 3-month history of headache and impaired vision. Neurological examination revealed bilateral sixth cranial nerve palsies with bilateral papilloedema of grade III. No focal brain or spine lesion was found on imaging. Consecutive lumbar punctures showed high opening pressure and subsequent increasing protein level. Meningeal biopsy was negative. At one point, she developed an increasing headache, vomiting and back pain. Spine MRI showed diffuse nodular leptomeningeal enhancement with the largest nodule at T6-T7. Malignant cells were detected in cerebrospinal fluid. She underwent laminectomy with excisional biopsy, and pathology showed medulloblastoma WHO grade IV. She was treated with chemotherapy and craniospinal irradiation and made a good recovery.
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Neoplasias Cerebelosas , Meduloblastoma , Seudotumor Cerebral , Adolescente , Neoplasias Cerebelosas/complicaciones , Neoplasias Cerebelosas/diagnóstico , Femenino , Humanos , Imagen por Resonancia Magnética , Meduloblastoma/complicaciones , Meduloblastoma/diagnóstico , Columna VertebralRESUMEN
Pituicytoma is a rare tumor that has been recently recognized and described, where only few reported cases of pituicytoma associated with Cushing's disease. We describe a case of a 47 years old female with a history of high cortisol levels and a diagnosis of Cushing's disease was made. Brain magnetic resonance imaging showed lesion in pituitary gland compatible with microadenoma and tumor resection was carried out. The histopathological findings were of a pituicytoma with positive thyroid transcription factor-1 immunostain.
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Glioblastoma multiforme (GBM), the most common primary brain tumor in adults, is associated with one of the worst 5 year survival rates among all human cancer types. To date, no published data are available for the outcome of this disease in Saudi Arabia. The present study performed a single-center, retrospective cohort study to evaluate the outcome of patients with GBM in Saudi Arabia. The Comprehensive Cancer Center at King Fahad Medical city (Riyadh, Saudi Arabia) was used in the present study. All adult patients (≥18 years) diagnosed with histologically proven GBM between January 2008 and December 2013 were included in the present study. A total of 90 patients were treated during the specified period. Of this, 73 (81%) patients underwent resection and 17 (19%) had biopsy only. The majority of patients (n=88; 98%) received radiotherapy (XRT): 67 (76%) with standard and 21 (24%) with hypo-fractionated dosage. Of the total patients, 65 (72%) received combined modality therapy [standard XRT concurrently with Temozolmide (TMZ)]. The 6 month progression-free survival rate was 43% for all patients and 55% for the combined modality subgroup. The median overall survival (OS) for all patients was 13.7 months. However, the median OS for patients treated with combined modality was 19.7 months. In this single-center retrospective study, the outcomes of patients with GBM were similar to those in previously reported studies. An improved outcome was associated with an improved performance status, absence of residual disease and use of adjuvant TMZ.
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Familial cerebral cavernous malformation is a rare entity. It has been described commonly among the Hispanic population and sparsely among the Italian, French, Swedish and Chinese populations. We discovered two families with this condition among the Saudi population for the first time. Both the index patients had a seizure as a prominent manifestation of their underlying structural lesion. One of them had recurrent attacks of bleeding in the cavernoma leading to a focal neurological deficit. The siblings and the parents of both the patients were screened using CT of the brain imaging. Two members within each family were found to have symptomatic cavernoma. A molecular genetics study revealed heterozygous KRIT1/CCM1 for a frameshift mutation in one of the patients. No detectable mutation was found in the other patient. These cases illustrate the existence of this condition beyond the commonly known geographical area of higher prevalence. Moreover, KRIT1/CCM1 might be the possible target gene that is mutated in this region.
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Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico , Adulto , Encéfalo/diagnóstico por imagen , Círculo Arterial Cerebral/anomalías , Círculo Arterial Cerebral/diagnóstico por imagen , Diagnóstico Diferencial , Electroencefalografía , Femenino , Mutación del Sistema de Lectura/genética , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico por imagen , Hemangioma Cavernoso del Sistema Nervioso Central/epidemiología , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Humanos , Proteína KRIT1 , Imagen por Resonancia Magnética , Masculino , Proteínas Asociadas a Microtúbulos/genética , Neuroimagen , Proteínas Proto-Oncogénicas/genética , Arabia Saudita/epidemiología , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
Adrenal Myelolipoma is a rare benign neoplasm composed of mature adipose tissue and a variable amount of haemopoietic elements. Most lesions are small and asymptomatic, discovered incidentally during autopsy or on imaging studies performed for other reasons. Two cases of myelolipoma are presented here, where the tumours were hormonally inactive, but presented with abdominal symptoms and were managed by laparoscopic adrenalectomy.