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1.
Surg Radiol Anat ; 46(8): 1355-1358, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38819484

RESUMEN

PURPOSE: To report an unusual absent right common carotid artery with embryological and clinical emphasis. METHODS: A 63-year-old female with a multilobulated anterior communicating artery saccular aneurysm was referred to our center for definite treatment. An analysis of her carotid system on CTA and DSA with 3D modeling was performed to assess the embryology of an absent right common carotid and its association with aneurysm development. RESULTS: Cerebral angiogram demonstrated an absent right common carotid artery and separate origin of the internal and external right carotid arteries arising from the brachiocephalic trunk. CONCLUSION: Absence of the common carotid artery is an uncommon anatomical variant, usually asymptomatic and commonly associated with other vascular abnormalities. It is important to be familiar with the association between this anatomical variant given its hemodynamic stress, high risk of stroke, and aneurysm formation.


Asunto(s)
Arteria Carótida Común , Angiografía Cerebral , Imagenología Tridimensional , Aneurisma Intracraneal , Humanos , Femenino , Persona de Mediana Edad , Aneurisma Intracraneal/diagnóstico por imagen , Arteria Carótida Común/diagnóstico por imagen , Arteria Carótida Común/anomalías , Variación Anatómica , Angiografía por Tomografía Computarizada , Angiografía de Substracción Digital
2.
Childs Nerv Syst ; 40(8): 2603-2607, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38642111

RESUMEN

The embryonal central nervous system (CNS) tumor with PLAGL1 (pleomorphic adenoma gene-like) amplification is a novel type of pediatric neoplasm with a distinct methylation profile, described for the first time in 2022. It may be located anywhere in the neuroaxis and, as its name implies, it is driven by the amplification and overexpression of one of the PLAG family genes. Although the associated clinical, immunohistopathological, and molecular characteristics are well characterized in the seminal report of this entity, data on the radiological features is still lacking. Here, we present a case report of a 4-year-old girl with a biopsy-proven PLAGL1-amplified brainstem tumor and provide a detailed description of the corresponding conventional neuroimaging characteristics, aiming to better delineate this entity and to increase the awareness of this pathology in the radiological community.


Asunto(s)
Factores de Transcripción , Humanos , Femenino , Preescolar , Factores de Transcripción/genética , Proteínas Supresoras de Tumor/genética , Neoplasias de Células Germinales y Embrionarias/diagnóstico por imagen , Neoplasias de Células Germinales y Embrionarias/genética , Neoplasias de Células Germinales y Embrionarias/patología , Imagen por Resonancia Magnética , Amplificación de Genes , Neoplasias del Tronco Encefálico/genética , Neoplasias del Tronco Encefálico/diagnóstico por imagen , Neoplasias del Tronco Encefálico/patología , Proteínas de Ciclo Celular
5.
Childs Nerv Syst ; 40(3): 961-964, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37917406

RESUMEN

PURPOSE: To describe the clinical and imaging features of a sellar-suprasellar pineoblastoma RB1 subgroup without pineal or retinal involvement. CASE REPORT: An 11-month-old girl presented to the emergency department with fever, rhinorrhea, vomiting, altered level of consciousness, and one seizure. Head CT and brain MRI demonstrated a large lobulated mass with calcifications and heterogeneous enhancement in the suprasellar region causing mass effect to the ventricular system and hydrocephalus. Histology revealed a CNS embryonal tumor not otherwise specified (NOS) with small round nuclei with mitotic activity and necrosis. DNA methylation analysis classified the tumor in the pineoblastoma RB1 subgroup. CONCLUSION: Pineoblastoma RB1 subgroup should be considered in the differential diagnosis of large sellar-suprasellar masses with calcifications and heterogeneous enhancement in children younger than 18 months even in cases of absent pineal or retinal involvement. Molecular analysis with DNA methylation profiling is critical for diagnosis and management.


Asunto(s)
Neoplasias Encefálicas , Neoplasias del Sistema Nervioso Central , Glándula Pineal , Pinealoma , Neoplasias de la Retina , Femenino , Humanos , Lactante , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/genética , Neoplasias del Sistema Nervioso Central/patología , Glándula Pineal/diagnóstico por imagen , Pinealoma/diagnóstico por imagen , Pinealoma/genética , Neoplasias de la Retina/diagnóstico por imagen , Neoplasias de la Retina/patología , Proteínas de Unión a Retinoblastoma , Ubiquitina-Proteína Ligasas
7.
Surg Radiol Anat ; 45(12): 1599-1602, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37878067

RESUMEN

PURPOSE: To describe the association between two aortic arch branch variants and its possible relationship with neurofibromatosis-1. METHODS: A 5-year-old female with NF-1 diagnosis presented to the emergency department at 2 months of age with irritability, vomiting and left gaze deviation. Brain MRI showed a left side acute hemispheric stroke and left internal carotid occlusion. RESULTS: CT angiography of the neck showed the right and left common carotid arteries arising from a common vascular trunk coming from the aortic arch and a right retroesophageal subclavian artery. CONCLUSION: Although the relationship between NF-1 mutation and aortic arch branch abnormalities has not been described, there is a recognized condition known as neurofibromatosis/Noonan syndrome which is an accepted variant of NF-1 with clinical features of both NF-1 and Noonan syndrome caused by dysregulation of the RAS-MAPK pathway. Aortic arch branch variations in patients with NF-1 could be explained by this association.


Asunto(s)
Neurofibromatosis 1 , Síndrome de Noonan , Accidente Cerebrovascular , Femenino , Humanos , Niño , Preescolar , Arteria Subclavia/diagnóstico por imagen , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Aorta Torácica/diagnóstico por imagen , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/etiología
10.
Neuroimaging Clin N Am ; 33(3): 407-422, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37356859

RESUMEN

Most intradural tumors are located within the intradural extramedullary compartment, and the most common tumors are schwannomas and meningiomas. Other less common neoplasms include neurofibroma, solitary fibrous tumor, myxopapillary ependymoma, lymphoma, metastatic leptomeningeal disease, malignant peripheral nerve sheath tumor, and paraganglioma. Patients usually present with gait ataxia, radicular pain, and motor and sensory deficits due to chronic compressive myelopathy or radiculopathy. MRI is the modality of choice for detecting and evaluating intradural extramedullary spinal tumors. This imaging technique helps narrow the differential diagnosis and therefore decide treatment.


Asunto(s)
Neoplasias Meníngeas , Neoplasias de la Médula Espinal , Neoplasias de la Columna Vertebral , Humanos , Neoplasias de la Médula Espinal/diagnóstico por imagen , Neoplasias de la Médula Espinal/patología , Síndrome , Neoplasias de la Columna Vertebral/patología , Imagen por Resonancia Magnética/métodos , Neoplasias Meníngeas/patología
12.
Radiol Case Rep ; 18(2): 515-518, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36439926

RESUMEN

Multiple sclerosis is a frequent condition where the diagnosis relies on clinical presentation, neurologic examination, cerebro spinal fluid markers, and diagnostic imaging tests; however, atypical variants of the disease can lead to misdiagnosis in some scenarios. Herein, we describe a case of a 24-year-old patient with multiple sclerosis with megacystic plaques, in which appropriate interpretation of the imaging findings lead to a proper diagnosis and treatment.

15.
Surg Radiol Anat ; 44(7): 1041-1044, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35842486

RESUMEN

PURPOSE: To describe an anatomical variant that should be consider in patients with hearing loss. METHODS: An 8-year-old girl underwent to temporal bone computed tomography for the evaluation of bilateral conductive hearing loss and further assessment of possible enlarged vestibular aqueduct or high jugular bulb on brain magnetic resonance imaging (MRI). RESULTS: CT of temporal bone showed a cystic cavity with bony sclerotic margins extending from the right jugular foramen to the vestibular aqueduct. Bony dehiscence of the jugular foramen with the right carotid canal was also noted. On brain MRI, there was no evidence of enlargement of the endolymphatic duct and sac on T2 thin-section gradient echo sequence. Time of flight MR angiography did not show arterial flow in the cavity. Contrast enhanced MR venography confirmed the presence of a high right jugular bulb with a diverticulum extending into the vestibular aqueduct due to jugular bulb-vestibular aqueduct dehiscence. CONCLUSION: Knowledge of high jugular bulb-vestibular aqueduct dehiscence is important in the assessment of patients with otologic symptoms such as vertigo, tinnitus and hearing loss.


Asunto(s)
Sordera , Divertículo , Pérdida Auditiva , Acueducto Vestibular , Niño , Divertículo/diagnóstico , Divertículo/diagnóstico por imagen , Femenino , Pérdida Auditiva/diagnóstico , Pérdida Auditiva/etiología , Pérdida Auditiva/patología , Humanos , Venas Yugulares/diagnóstico por imagen , Hueso Temporal/patología , Acueducto Vestibular/diagnóstico por imagen , Acueducto Vestibular/patología
17.
Can Assoc Radiol J ; 73(3): 557-567, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35044276

RESUMEN

Increased intracranial pressure is the most common cause of papilledema. Multiple etiologies such as cerebral edema, hydrocephalus, space occupying lesions, infection, and idiopathic intracranial hypertension among others should be considered. Imaging plays a critical role in the detection of pathologies that can cause papilledema. MRI with contrast and CE-MRV, in particular, are key for the diagnosis of idiopathic intracranial hypertension. This review will focus in common and infrequent causes of papilledema, the role of imaging in patients with papilledema as well as its potential mimickers.


Asunto(s)
Papiledema , Seudotumor Cerebral , Diagnóstico Diferencial , Humanos , Imagen por Resonancia Magnética/efectos adversos , Papiledema/diagnóstico por imagen , Papiledema/etiología , Seudotumor Cerebral/complicaciones , Seudotumor Cerebral/diagnóstico por imagen
18.
Surg Radiol Anat ; 44(2): 299-301, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34741640

RESUMEN

PURPOSE: To describe an uncommon anatomical variant of the anterior cerebral artery and the imaging findings. METHODS: A 2-month-old infant with known history of atrial and ventricular septal defects was admitted to our institution for evaluation and management of growth failure. Given the clinical presentation and medical history, magnetic resonance imaging (MRI) of the brain and MR angiography (MRA) were performed to exclude congenital hypopituitarism and any vascular abnormality. RESULTS: Time of flight MRA revealed trifurcation of the anterior cerebral artery with one of the vessels arising from the ophthalmic segment of the right internal carotid artery; thus, the A1 segment of the left anterior cerebral artery (ACA) was absent, and the right posterior cerebral artery (PCA) had a fetal origin. CONCLUSION: Anatomical variants of the cerebral circulation are asymptomatic and found incidentally. Knowledge of these variants and careful examination of CT/MRI angiograms are important for diagnosis and treatment planning.


Asunto(s)
Arteria Cerebral Anterior , Angiografía por Resonancia Magnética , Variación Anatómica , Arteria Cerebral Anterior/diagnóstico por imagen , Arteria Carótida Interna/diagnóstico por imagen , Angiografía Cerebral , Humanos , Lactante , Imagen por Resonancia Magnética
19.
Neuroradiol J ; 34(4): 335-340, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-33487089

RESUMEN

OBJECTIVE: To assess the usefulness of head and neck computed tomography angiogram for the investigation of isolated dizziness in the emergency department in detecting significant acute findings leading to a change in management in comparison to non-contrast computed tomography scan of the head. METHODS: Patients presenting with isolated dizziness in the emergency department investigated with non-contrast computed tomography and computed tomography angiogram over the span of 36 months were included. Findings on non-contrast computed tomography were classified as related to the emergency department presentation versus unrelated/no significant abnormality. Similarly, computed tomography angiogram scans were classified as positive or negative posterior circulation findings. RESULTS: One hundred and fifty-three patients were imaged as a result of emergency department presentation with isolated dizziness. Fourteen cases were diagnosed clinically as of central aetiology. Non-contrast computed tomography was positive in three patients, all with central causes with sensitivity 21.4%, specificity 100%, positive predictive value 100%, negative predictive value 92.6% and accuracy 92.8%. Computed tomography angiogram was positive for angiographic posterior circulation abnormalities in five cases, and only two of them had a central cause of dizziness, with sensitivity 14.3%, specificity 97.7%, positive predictive value 40%, negative predictive value 91.46% and accuracy 92.1%. CONCLUSION: Both non-contrast computed tomography and computed tomography angiogram of the head and neck have low diagnostic yield for the detection of central causes of dizziness, However, non-contrast computed tomography has higher sensitivity and positive predictive value than computed tomography angiogram, implying a lack of diagnostic advantage from the routine use of computed tomography angiogram in the emergency department for the investigation of isolated dizziness. Further studies are required to determine the role of computed tomography angiogram in the work-up of isolated dizziness in the emergency department.


Asunto(s)
Mareo , Servicio de Urgencia en Hospital , Angiografía , Mareo/diagnóstico por imagen , Humanos , Estudios Retrospectivos , Tomografía Computarizada por Rayos X
20.
Neuroradiol J ; 34(1): 8-12, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32940129

RESUMEN

BACKGROUND AND PURPOSE: Computed tomography virtual endoscopy (CT-VE) is a non-invasive technique which allows visualisation of intraluminal surfaces by tridimensional reconstruction of air/soft tissues. The aim of this study was to compare the diagnostic accuracy of CT-VE and flexible fibre-optic laryngoscopy (FFL) in identifying normal neck anatomic structures and pharyngeal and laryngeal lesions. METHODS: Forty-two patients with a history of neck cancer were assessed by two ENT surgeons using FFL and by one neuroradiologist using CT-VE in order to evaluate the visualisation of the epiglottis, vallecula, glossoepiglottic folds, pyriform sinuses, vocal cords and mass pathology. The visualisation of the structures in both modalities was assessed according to the following score: 0 = not visualised, 1 = partial visualisation, 2 = complete and clear visualisation. A weighted kappa coefficient was used to evaluate the inter-observer agreement. McNemar's test was performed to compare the two diagnostic tests. RESULTS: The inter-observer agreement between FFL and CT-VE was fair in the assessment of the vocal cords (k = 0.341); moderate in the assessment of the glossoepiglottic folds (k = 0.418), epiglottis (k = 0.513) and pyriform sinuses (k = 0.477); and substantial in the assessment of the vallecula (k = 0.618) and the tumour (0.740). McNemar's test showed no significant difference between the two tests (p<0.05). CONCLUSION: CT-VE is a non-invasive technique with a diagnostic accuracy comparable to FFL in terms of visualisation of anatomical structures and pharyngeal and laryngeal lesions.


Asunto(s)
Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Laringoscopía/métodos , Tomografía Computarizada por Rayos X/métodos , Anciano , Femenino , Tecnología de Fibra Óptica , Humanos , Masculino , Estudios Retrospectivos
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