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Chiari malformation (CM) is a group of complex deformities of the posterior fossa and hindbrain, of which CMIII is the rarest. We report a term neonate, with an antenatal diagnosis of occipital encephalocele, who underwent resection of the encephalocele and ligation of vessels, with repair of a large scalp defect and dural reconstruction on day 4 of life. The parents of the child had been counselled for a guarded and poor prognosis on initial diagnosis. The child has had a good postoperative course without complications but suffers from cortical visual impairment and global developmental delay.
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Malformação de Arnold-Chiari , Imageamento por Ressonância Magnética , Humanos , Recém-Nascido , Malformação de Arnold-Chiari/diagnóstico , Malformação de Arnold-Chiari/diagnóstico por imagem , Cerebelo/anormalidades , Encefalocele/cirurgia , RombencéfaloRESUMO
Reversible cerebral vasoconstriction syndrome (RCVS) is a rare phenomenon that can present in the postpartum period. We show the experience of a 35-year-old patient who presented with headache after an uncomplicated pregnancy and vaginal delivery. She was initially diagnosed with pre-eclampsia, and subsequently with RCVS following discovery of multifocal vascular narrowing on magnetic resonance arteriography (MRA). Verapamil was initiated, and at 1 month there was improvement intracranially, but cervical vertebral arterial narrowing, likely dissection, was discovered. Verapamil was continued and aspirin was initiated. Follow-up imaging 5 months postpartum demonstrated near-complete resolution of previously noted abnormalities, which remained stable at reimaging at 10 months postpartum. In conclusion, the symptoms of RCVS can mimic or coexist with pre-eclampsia. Early intracranial imaging such as MRA can permit timely diagnosis and facilitate appropriate management and follow-up.
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Pré-Eclâmpsia , Gravidez , Feminino , Humanos , Adulto , Vasoconstrição , Imageamento por Ressonância Magnética , Período Pós-Parto , VerapamilRESUMO
INTRODUCTION: Haemangioblastoma is a benign, vascular tumour of the central nervous system. Stereotactic radiosurgery (SRS) is increasingly being used as a treatment for spinal lesions to avoid complex surgery, especially in patients with multi-focal tumours associated with von Hippel-Lindau syndrome (VHL). Here, we present the outcomes of patients treated in our centre using a CyberKnife VSI (Accuray, Inc.). METHODS: Retrospective analysis of all patients treated at our institution was conducted. Assessment of radiological response was based upon RANO criteria. Solid and overall tumour progression-free survival (PFS) was calculated using the Kaplan-Meier method. The development of a symptomatic new or enlarging cyst was included in the definition of progression when determining overall PFS. RESULTS: Fourteen tumours in 10 patients were included. Seven patients were male, and nine had VHL. Nine (64%) tumours had an associated cyst. The median (IQR) age at treatment was 45.5 (43.5-53) years. The median gross tumour volume was 0.355cc. Patients received a mean marginal prescribed dose of 9.6 Gy in a single fraction (median maximum dose: 14.3 Gy), which was constrained by spinal cord tolerance. Mean follow-up was 15.4 months. Radiologically, 11 (78.6%) tumours were stable or regressed and three (21.4%) progressed. Eight patients' symptoms improved or were stable, and two worsened, both of which were secondary to cyst enlargement. The 1-year solid-tumour and overall PFS was 92.3% and 75.7%, respectively. All patients were alive at the most recent follow-up. One patient developed grade 1 back pain following treatment. DISCUSSION/CONCLUSION: SRS appears to be a safe and effective treatment for spinal haemangioblastoma. Prospective trials with longer follow-up are required to establish the optimum management.
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Cistos , Hemangioblastoma , Radiocirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Hemangioblastoma/patologia , Hemangioblastoma/cirurgia , Radiocirurgia/métodos , Estudos Retrospectivos , Estudos Prospectivos , Resultado do Tratamento , Cistos/cirurgia , SeguimentosRESUMO
Hemimegalencephaly, or unilateral megalencephaly, is a sporadic congenital brain malformation characterized by enlargement of a cerebral hemisphere due to an abnormal proliferation of neurons or glial cells. Hemimegalencephaly is part of a spectrum of disorders, increasingly referred to as mTORopathies, which arise as a result of dysregulation or hyperactivation of the mammalian target of rapamycin (mTOR)-signaling cascade resulting in less restricted cell growth and survival. The resultant cortical disorganization and enhanced neuronal excitability often manifest clinically in the form of seizures. Ultrasound and magnetic resonance imaging (MRI) are often used to characterize hemimegalencephaly. Typical imaging findings seen include diffuse unilateral enlargement of a cerebral hemisphere with overlying cortical malformation and ipsilateral dilation of the lateral ventricle. This paper will review an unusual case of focal hemimegalencephaly diagnosed on prenatal imaging. Initial in utero MRI revealed a mass-like lesion in the frontal lobe without associated perilesional cerebral edema. Keying in on abnormalities within the overlying cortex was crucial in suggesting focal hemimegalencephaly as a leading diagnosis and distinguishing it from alternative diagnoses such as a neoplasm. Follow-up fetal MRI demonstrated the evolution of the cerebral abnormality and confirmed the diagnosis. Early diagnosis facilitated appropriate counseling of the parents and guided postnatal imaging and management.
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Fatores de Coagulação Sanguínea , Hemorragia , Administração Oral , Anticoagulantes/efeitos adversos , Fatores de Coagulação Sanguínea/uso terapêutico , Fator VIIa/uso terapêutico , Inibidores do Fator Xa/uso terapêutico , Hemorragia/induzido quimicamente , Hemorragia/tratamento farmacológico , Humanos , Piridonas/uso terapêutico , Rivaroxabana/uso terapêuticoRESUMO
OBJECTIVE: The aim of the study was to aggregate neuroradiological findings in patients with coronavirus disease 2019 (COVID-19) in the brain, head and neck, and spine to identify trends and unique patterns. METHODS: A retrospective review of neuroimaged COVID-19 patients during a 6-week surge in our 8-hospital campus was performed. The brain imaging with reported acute or subacute infarction, intraparenchymal hemorrhage, and all neck examinations were reinterpreted by 2 reviewers. RESULTS: Six hundred seventy-one patients met criteria and were reviewed. Acute or subacute infarction was seen in 39 (6%), intraparenchymal hemorrhage in 14 (2%), corpus callosum involvement in 7, and thalamus in 5 patients. In spine and neck studies, lung opacities and adenopathy were seen in 46 and 4 patients, respectively. CONCLUSIONS: Infarction followed by intraparenchymal hemorrhage was the most common acute findings in the brain with frequent involvement of the corpus callosum and thalami. In the neck, lung abnormalities were frequently present, and adenopathy was almost always associated with a second pathology.
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COVID-19/complicações , COVID-19/patologia , Doenças do Sistema Nervoso Central/complicações , Doenças do Sistema Nervoso Central/diagnóstico por imagem , Neuroimagem/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , COVID-19/diagnóstico por imagem , Doenças do Sistema Nervoso Central/patologia , Criança , Pré-Escolar , Feminino , Cabeça/diagnóstico por imagem , Cabeça/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Pescoço/diagnóstico por imagem , Pescoço/patologia , Pandemias , Estudos Retrospectivos , SARS-CoV-2 , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Tomografia Computadorizada por Raios X/métodos , Adulto JovemRESUMO
Biotin-thiamine-responsive encephalopathy, also known as biotin-responsive basal ganglia disease, is characterized by high T2 signal in the basal ganglia (caudate and putamina), which is reported as a typical feature of the disorder. Brain magnetic resonance imaging in our patient, who presented with irritability, poor feeding and prolonged seizures, found multiple areas of restricted diffusion in the cerebral cortex and thalami leading to an initial diagnosis of a mitochondrial disorder. The basal ganglia were not affected. More characteristic chronic findings of T2 prolongation and volume loss were later seen in our patient. The child improved with biotin and thiamine supplementation, a well-known feature of the condition. It is important for the radiologist and treating team to be aware of this variant and pursue further investigations to avoid delay in care and potential fatality.
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Doenças dos Gânglios da Base , Biotina , Gânglios da Base/diagnóstico por imagem , Doenças dos Gânglios da Base/diagnóstico por imagem , Doenças dos Gânglios da Base/tratamento farmacológico , Criança , Humanos , Imageamento por Ressonância Magnética , Proteínas de Membrana Transportadoras/genética , Proteínas de Membrana Transportadoras/metabolismo , Mutação , Tiamina/uso terapêuticoRESUMO
Neurocutaneous melanosis (NCM) is a rare disorder characterised by giant or multiple melanocytic nevi and meningeal melanosis or melanoma. Onset of neurological symptoms is typically in children younger than 2 years and can be rapidly fatal. We present the case of a 13-year-old adopted girl presenting with numerous congenital melanocytic nevi and a seizure. She had no significant previous neurological history. Electroencephalogram showed epileptiform discharges over the right frontal region. MRI of the brain showed T1 hyperintensity in the bilateral amygdala and anterior temporal lobes with corresponding hyperintensity on T2 and fluid attenuated inversion recovery. There was no hydrocephalus. Along with the history of nevi, these imaging findings were concerning for NCM. The patient is being managed with levetiracetam and trametinib and shows no further neurological decline at 1-year follow-up, providing prognostic hope in this case of NCM.
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Anticonvulsivantes/uso terapêutico , Levetiracetam/uso terapêutico , Melanose , Quinases de Proteína Quinase Ativadas por Mitógeno/antagonistas & inibidores , Síndromes Neurocutâneas , Inibidores de Proteínas Quinases/uso terapêutico , Piridonas/uso terapêutico , Pirimidinonas/uso terapêutico , Adolescente , Tonsila do Cerebelo/diagnóstico por imagem , Tonsila do Cerebelo/patologia , Eletroencefalografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Melanose/diagnóstico , Melanose/tratamento farmacológico , Melanose/mortalidade , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/tratamento farmacológico , Síndromes Neurocutâneas/mortalidade , Nevo Pigmentado/congênito , Convulsões/tratamento farmacológico , Convulsões/etiologia , Lobo Temporal/diagnóstico por imagem , Lobo Temporal/patologiaRESUMO
This report discusses a 13-year-old girl diagnosed with beta-propeller protein-associated neurodegeneration (BPAN). BPAN is an X-linked neurodegeneration disorder associated with a mutation in the WDR45 gene. It typically presents in childhood with encephalopathy, developmental delay, and seizures. Following an initial static phase, these symptoms then progress to dementia, dystonia, and parkinsonism in early adulthood. Our child initially presented with epileptic spasms, global developmental delay, speech delay, hypotonia, spasticity, scoliosis, and gait disturbance. While these symptoms remained unchanged in early childhood, they depicted accelerated deterioration at age 12-13 rather than in adulthood. Her diagnosis was made based on her clinical presentation and review of imaging that led to specific genetic testing confirming the condition. The imaging findings were of markedly low signal on gradient T2* sequences in the globus pallidus and substantia nigra and T1 hyperintensity in the substantia nigra, with associated diffuse brain volume loss. Unlike other cases reported in the literature, there was no classic area of central hypointensity on T1 imaging in the substantia nigra.
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Meningiomas are the most common dural tumour. They are regularly being seen as an incidental finding on brain imaging and treated conservatively. However, there are many other dural masses which mimic their appearances, including primary neoplastic processes, metastases, granulomatous diseases and infection. While some of these are rare, others such as metastases and tuberculosis arise relatively frequently in practice. Although not pathognomonic, key features which increase the probability of a lesion being a meningioma include intralesional calcifications, skull hyperostosis, local dural enhancement and increased perfusion. It is important to have an awareness of these entities as well as their main imaging findings, as they have a wide range of prognoses and differing management strategies. This review outlines several of the most important mimics along with their imaging findings on both standard and advanced techniques with key features which may be used to help differentiate them from meningiomas.
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Tuberous sclerosis complex (TSC) is a multisystem, genetic disorder characterized by development of hamartomas in the brain, abdomen, and thorax. It results from a mutation in one of 2 tumor suppressor genes that activates the mammalian target of rapamycin pathway. This article discusses the origins of the disorder, the recently updated criteria for the diagnosis of TSC, and the cross-sectional imaging findings and recommendations for surveillance. Familiarity with the diverse radiological features facilitates diagnosis and helps in treatment planning and monitoring response to treatment of this multisystem disorder.
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Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Esclerose Tuberosa/diagnóstico por imagem , Esclerose Tuberosa/genética , Diagnóstico Diferencial , Medicina Baseada em Evidências , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Humanos , Esclerose Tuberosa/epidemiologiaRESUMO
PURPOSE: To compare cost of percutaneous cryoablation vs open and robot-assisted partial nephrectomy of T1a renal masses from the hospital perspective. MATERIALS AND METHODS: We retrospectively compared cost, clinical and tumor data of 37 percutaneous cryoablations to 26 open and 102 robot-assisted partial nephrectomies. Total cost was the sum of direct and indirect cost of procedural and periprocedural variables. Clinical data included demographics, Charlson Comorbidity Index (CCI), hospitalization time, complication rate, ICU admission rate, and 30-day readmission rates. Tumor data included size, RENAL nephrometry score, and malignancy rate. Student's t-test was used for continuous variables and Fisher's exact or chi-square tests for categorical data. RESULTS: Mean total cost was lower for percutaneous cryoablation than open or robot-assisted partial nephrectomy: $6067 vs $11392 or $11830 (p<0.0001) with lower cost of procedure room: $1516 vs $3272 or $3254 (p<0.0001), room and board: $95 vs $1907 or $1106 (p<0.0001), anesthesia: $684 vs $1223 or $1468 (p<0.0001), and laboratory/pathology fees: $205 vs $804 or $720 (p<0.0001). Supply and device cost was higher than open: $2596 vs $1352 (p<0.0001), but lower than robot-assisted partial nephrectomy: $3207 (p=0.002). Mean hospitalization times were lower for percutaneous cryoablation (p<0.0001), while age and CCI were higher (p<0.0001). No differences in tumor size, nephrometry score, malignancy rate complication, ICU, or 30-day readmission rates were observed. CONCLUSION: Percutaneous cryoablation can be performed at significantly lower cost than open and robotic partial nephrectomies for similar masses.
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Carcinoma de Células Renais/cirurgia , Ablação por Cateter/economia , Criocirurgia/economia , Custos de Cuidados de Saúde , Neoplasias Renais/cirurgia , Nefrectomia/economia , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Renais/patologia , Feminino , Humanos , Neoplasias Renais/patologia , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Estudos Retrospectivos , Procedimentos Cirúrgicos Robóticos/economiaRESUMO
Carcinoma ex pleomorphic adenoma (CEPA) is an uncommon complication of an untreated pleomorphic adenoma (PA), but one that has a life-threatening significance. This case report documents the clinical, radiological and histopathological features of an extremely rare case of biopsy-proven pineal metastasis, with cerebellopontine and leptomeningeal spread, from CEPA of the parotid gland in spite of the patient having undergone parotidectomy, ipsilateral neck dissection and adjuvant radiotherapy. In spite of the current surgical and oncological treatment of CEPA, the rates of recurrence and distant metastases are high, with a subsequently poor prognostic outcome in most patients. Distant spread is usually to the bones and the lungs; however, more unusual locations have been documented. Our finding of pineal metastasis from CEPA has not previously been reported in the literature. Although this is a rare complication of an unusual condition, the aggressive behaviour of these malignancies warrants close clinical follow-up, with a low threshold for re-imaging and investigation if indicated.
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Nasal gliomas (nasal glial heterotopia) are rare benign congenital frontonasal lesions occurring in approximately 1:20.000-40,000 live births. The diagnosis is rarely reported prenatally. Nasal gliomas are typically isolated lesions, with syndromic association being exceedingly rare. Metopic craniosynostosis can occur as an isolated abnormality or in association with multiple syndromes. This case is the first reported case of nasal glioma in association with craniosynostosis in the published literature.
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Craniossinostoses/diagnóstico , Glioma/diagnóstico , Neoplasias Nasais/diagnóstico , Diagnóstico Pré-Natal/métodos , Craniossinostoses/complicações , Craniossinostoses/cirurgia , Feminino , Glioma/complicações , Glioma/etiologia , Glioma/cirurgia , Humanos , Imageamento por Ressonância Magnética , Neoplasias Nasais/complicações , Neoplasias Nasais/etiologia , Neoplasias Nasais/cirurgia , Gravidez , Ultrassonografia Pré-NatalRESUMO
Susceptibility-weighted imaging (SWI) is a recently developed magnetic resonance imaging (MRI) technique where image contrast represents 'magnetic susceptibility effects'-a natural property of tissues. The applications of SWI are rapidly increasing, with much work being carried out to determine the usefulness of the technique in multiple disease states. Current clinical applications of the technique include detection of microbleeds, subarachnoid hemorrhage (SAH), ferromagnetic deposition in neurodegenerative disease, and characterization of cerebral tumors.
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PURPOSE: The acquisition of ever increasing volumes of high resolution magnetic resonance imaging (MRI) data has created an urgent need to develop automated and objective image analysis algorithms that can assist in determining tumor margins, diagnosing tumor stage, and detecting treatment response. METHODS: We have shown previously that Minkowski functionals, which are precise morphological and structural descriptors of image heterogeneity, can be used to enhance the detection, in T1 -weighted images, of a targeted Gd(3+) -chelate-based contrast agent for detecting tumor cell death. We have used Minkowski functionals here to characterize heterogeneity in T2 -weighted images acquired before and after drug treatment, and obtained without contrast agent administration. RESULTS: We show that Minkowski functionals can be used to characterize the changes in image heterogeneity that accompany treatment of tumors with a vascular disrupting agent, combretastatin A4-phosphate, and with a cytotoxic drug, etoposide. CONCLUSIONS: Parameterizing changes in the heterogeneity of T2 -weighted images can be used to detect early responses of tumors to drug treatment, even when there is no change in tumor size. The approach provides a quantitative and therefore objective assessment of treatment response that could be used with other types of MR image and also with other imaging modalities.
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Etoposídeo/uso terapêutico , Interpretação de Imagem Assistida por Computador/métodos , Linfoma/tratamento farmacológico , Linfoma/patologia , Imageamento por Ressonância Magnética/métodos , Estilbenos/uso terapêutico , Animais , Antineoplásicos/uso terapêutico , Linhagem Celular Tumoral , Feminino , Camundongos , Camundongos Endogâmicos C57BL , Estadiamento de Neoplasias , Prognóstico , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Resultado do TratamentoRESUMO
Vertebral hemangioma is the most common spinal axis tumor. This rare presentation of a vertebral hemangioma extended contiguously from one cervical vertebra to another, encasing the vertebral artery, and thereby mimicking other tumors of the spine. We discuss the differential diagnosis of bridging vertebral masses.
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Cerebral microbleeds have emerged as an important new imaging marker of cerebral small vessel disease. With the development of MRI techniques that are exquisitely sensitive to paramagnetic blood products, such as T2*-weighted gradient-recalled echo and susceptibility-weighted sequences, microbleeds have been detected in ever-increasing numbers of patients in stroke and cognitive clinics, as well as in healthy older people and in a variety of other rarer diseases and syndromes. Detection of cerebral microbleeds has clinical implications with respect to the diagnosis of the underlying small vessel disease, the safety of antithrombotic use, and the risk of symptomatic intracerebral haemorrhage, cognitive impairment and dementia. This article provides a guide to the detection and clinical relevance of cerebral microbleeds in different conditions based on a comprehensive review of the literature and own findings in research and clinical practice.
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Hemorragia Cerebral/complicações , Hemorragia Cerebral/diagnóstico , Angiografia por Ressonância Magnética/métodos , Transtornos Mentais/complicações , Transtornos Mentais/diagnóstico , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/diagnóstico , Diagnóstico Diferencial , Humanos , Microvasos/patologiaRESUMO
The pulmonary artery is affected by a multitude of conditions that can be congenital or acquired. These disorders may be detected incidentally, or the clinical features of the different conditions may overlap. This pictorial review illustrates the imaging findings of some of the main conditions that affect the pulmonary artery by considering them in 3 main categories: congenital disorders; enlargement of the pulmonary arteries, most commonly seen in pulmonary hypertension; obstruction or occlusion of the pulmonary arteries, as seen in thromboembolic disease or large vessel vasculitis. It is important for the radiologist to understand the radiological manifestations of these disorders, as early recognition would be of significant benefit in their diagnosis and treatment.