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Carotid- Cavernous Fistula (CCF) represents an aberrant vascular communication at the skull base between the high-flow carotid arterial system and the low-flow venous channels within the cavernous sinuses of the sphenoid bone. Benjamin Travers, in the year 1809, described this condition as "pulsating exophthalmos". This case is a presentation of a carotid cavernous fistula in an operated case of maxillofacial injury as a late complication. The individual presented with a nonresolving proptosis and chemosis for the past 9 weeks. This presentation enumerates how the diagnosis was made, though being a rare complication and how it was promptly managed that resulted in a remarkable resolution of signs and symptoms.
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Purpose: To propose an advanced multiparametric magnetic resonance imaging (MRI)-based scoring system and evaluate its diagnostic accuracy with respect to the isocitrate dehydrogenase (IDH) mutation status of gliomas. Material and methods: This prospective observational study included 50 consecutive patients with suspected gliomas, enrolled for pre-operative MRI. The exclusion criteria were previous surgery, biopsy, or chemo/radiotherapy and contraindications to the gadolinium-based contrasts or MRI acquisition. A standardized brain-MRI protocol using a 3-Tesla machine and 16-channel head coil consisted of pre-contrast axial-T2WI, FLAIR, DTI, 3D-ASL perfusion, SWI, 3D-T1WI, and post-contrast axial-DSC perfusion followed by 3D-T1WI and MR spectroscopy. ROIs were drawn from the tumoral centre, periphery, and peritumoral oedema (3 ROIs for each) followed by normalization using the ROIs over the contralateral normal white matter. The cut-off values for the statistically significant (p <0.05) continuous variables were derived by drawing receiver operating characteristic (ROC) curves. A 7-point "glioma-score" was derived from the 3 categorical (T2/FLAIR-mismatch, contrast enhancement, and intratumoral susceptibility signals) and 4 continuous ROI-based variables (ADC, FA, ASL-CBF, and DSC-CBV). Results: The predictability of IDH mutant status using the multiparametric advanced MRI-based glioma score was statistically significant (sensitivity = 69.23%, specificity = 95.65%, PPV = 94.74%, NPV = 73.33%). A glioma score of more than 4.5 out of 7 predicted the IDH-mutation status with higher specificity and sensitivity compared to each of the individual imaging variables. Conclusions: The advanced multiparametric MRI-based glioma score can predict the IDH-mutation status with high statistical significance.
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Background: Mental retardation, X-linked, syndromic, Houge type (MRXSHG) is a form of mental retardation characterized by intellectual disability, speech and language impairments, and early-onset seizures. It has been recently recorded in Online Mendelian Inheritance in Man (OMIM), and only 10 cases have been reported in the literature so far. Objective: To highlight the novel neuroimaging findings in the pediatric X-linked intellectual disability with a missense mutation of connector enhancer of kinase suppressor of RAS2 (CNKSR2) gene. Material and Methods: We present a case of intellectual disability, refractory epilepsy, speech and language delay with subtle dysmorphism, and behavioral issues in an 11-year-old boy with novel neuroimaging findings in a CNKSR2 gene with missense mutation. Results: Brain MRI revealed involvement of the basal ganglia, predominantly the neostriatum, and along with the subependymal aspects with focal cavitations involving, especially the bilateral caudate heads. There was relative sparing of the globus pallidi and posterior putamina bilaterally. Whole-exome sequencing identified a hemizygous missense pathogenic variant in the CNKSR2 gene. The mother was found to be an asymptomatic carrier. Conclusion: This case report highlights the rare missense mutation in the CNKSR2 gene and abnormal neuroimaging findings, which further provide information about the phenotypic characteristics of X-linked syndromic intellectual disability.
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Discapacidad Intelectual , Masculino , Humanos , Niño , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Mutación Missense , Fenotipo , Neuroimagen , Imagen por Resonancia Magnética , Proteínas Adaptadoras Transductoras de Señales/genéticaRESUMEN
Pulmonary thromboembolism (PTE) remains the third leading cause of cardiovascular death, after a heart attack and stroke. Haemodynamically unstable PTE (previously called high-risk or massive) is one of the dreaded conditions commonly found in people working in high-altitude areas. Due to the individual variations in clot characteristics and the haemodynamics, these patients offer unique therapeutic challenges by delay in access to tertiary care, being recalcitrant to the systemic thrombolysis as well as complete recanalisation by endovascular thrombectomy. We present a rare case of haemodynamically unstable right pulmonary trunk occlusion with delayed presentation and sustained right ventricular strain despite systemic thrombolysis, managed successfully by catheter-directed thrombectomy. Despite the partial recanalisation of only the right inferior pulmonary artery branches and persistent superior branch occlusion, there was an immediate clinical benefit and no recurrence of symptoms with maintenance therapy of newer oral anticoagulants.
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Embolia Pulmonar , Catéteres , Humanos , Arteria Pulmonar/diagnóstico por imagen , Embolia Pulmonar/diagnóstico por imagen , Embolia Pulmonar/tratamiento farmacológico , Trombectomía , Terapia TrombolíticaRESUMEN
Isolated deep cerebral venous thrombosis (CVT), especially involving only the right thalamus, is one of the rarest forms of intracranial venous thrombosis in a child. The anatomy and flow patterns of the deep cerebral venous system are complex and usually, the thrombosis of the internal cerebral veins (ICV) results in thalamic infarction bilaterally. The focal infections, thalamic tumours and vascular malformations may have overlapping clinicoradiological patterns. The treating team should be able to recognise the atypical phenotypes of the deep CVT at the earliest, which can facilitate apt treatment and obviate the need for unnecessary investigations and interventions. We present a rare case of an isolated right thalamic acute venous infarct secondary to bilateral ICV thrombosis in a toddler who was successfully managed by timely diagnosis and with only conservative therapy.
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Venas Cerebrales , Trombosis Intracraneal , Trombosis de la Vena , Infarto Cerebral/complicaciones , Venas Cerebrales/patología , Preescolar , Humanos , Trombosis Intracraneal/complicaciones , Tálamo/irrigación sanguínea , Tálamo/diagnóstico por imagen , Trombosis de la Vena/complicaciones , Trombosis de la Vena/diagnóstico por imagenRESUMEN
BACKGROUND: The pseudoaneurysms of the internal carotid artery (ICA) at the skull base form a unique subset of craniofacial pseudoaneurysms with varied diagnostic and therapeutic challenges. Recurrence in a surgically treated pseudoaneurysm may become a nightmare due to very limited number of open and endovascular options. REPORT: We report a rare case of recurrent pseudoaneurysm of petrous ICA, which presented with massive epistaxis following an initial successful occlusion by surgical trapping of the parent arterial segment with surgical clip. Cerebral angiography revealed filling of the pseudoaneurysm by small arterial channels from the external carotid, contralateral internal carotid and basilar arterial branches and emptying through the "slipped" distal clip. After a meticulous analysis of the cerebral angiogram, the recurrent pseudoaneurysm was eventually embolized retrogradely through the "slipped" clip after crossing the anterior communicating artery taking a contralateral internal carotid access. CONCLUSION: Scrupulous planning and execution of ICA pseudoaneurysms is necessary to prevent recurrence. Naturally occuring collateral routes through the Circle of Willis aid in treatment of "unreachable" vascular lesions.
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Aneurisma Falso , Aneurisma Falso/diagnóstico por imagen , Aneurisma Falso/cirugía , Arteria Carótida Interna/diagnóstico por imagen , Arteria Carótida Interna/cirugía , Angiografía Cerebral , Círculo Arterial Cerebral , Humanos , Base del CráneoRESUMEN
Tongue trauma with active bleed is most commonly due to the ruptured lingual artery and its branches, whereas delayed haemorrhage is usually secondary to pseudoaneurysm formation. This case is a unique presentation of traumatic tongue bleeds with early formation of pseudoaneurysm of a lingual artery branch. We present our experience in its management. A contrast-enhanced CT (CECT) with angiography detected right deep lingual artery pseudoaneurysm, which was managed by endovascular gelfoam embolisation followed by tongue laceration repair. Tongue bleed stopped immediately post embolisation; tongue viability and functions restored on postoperative day 1 of repair. No complications like secondary haemorrhage or tongue necrosis were noted at 1-month follow-up. High index of suspicion for lingual artery and/or its branch pseudoaneurysm is crucial in acute and uncontrollable traumatic tongue bleed. A CECT is a minimum norm in early diagnosis. Choice of management is the cornerstone of a successful outcome.
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Aneurisma Falso , Embolización Terapéutica , Aneurisma Falso/complicaciones , Aneurisma Falso/diagnóstico por imagen , Aneurisma Falso/terapia , Angiografía , Arterias , Hemorragia/etiología , Hemorragia/terapia , HumanosRESUMEN
Isolated involvement of the temporalis muscle by cysticercosis is uncommon. The clinical features may mimic other inflammatory conditions of maxilofacial region or that of temporal headache. We describe here a case of right temporalis muscle cysticercosis that was initially misdiagnosed as dental caries. She clinically improved with albendazole and steroid. The radiology done after 6 months of therapy showed a complete resolution of the intramuscular lesion. Although rare, cysticercosis should be kept as one differential in patients present with unilateral temporal headache in endemic areas. Intramuscular cysticercosis can be diagnosed on the basis of radiological findings and respond well to pharmacological therapy.
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Haemodynamic flow-related stress at the vessel curvatures is an important risk factor for intracranial aneurysmal growth and rupture. The rete middle cerebral artery (MCA) is a rare entity causing hyperdynamic blood flow into the ipsilateral anterior cerebral artery (ACA), especially when the contralateral A1-segment is non-dominant. Ruling out the clinicoradiological mimics like vasculitis, moyamoya and chronic occlusive disease with vessel wall imaging and detailed investigations helps manage the clinical entity effectively. We present a successfully managed case of ruptured ACA aneurysm at the acute curvature of the A1-A2 junction associated with ipsilateral rete MCA. Pre-emptive diagnosis of the rete MCA can aid preventive strategies to manage rupture and regrowth of the aneurysm at the points of flow-related stress.
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Aneurisma Roto/diagnóstico por imagen , Arteria Cerebral Anterior/diagnóstico por imagen , Malformaciones Vasculares del Sistema Nervioso Central/diagnóstico por imagen , Aneurisma Intracraneal/diagnóstico por imagen , Arteria Cerebral Media/anomalías , Hemorragia Subaracnoidea/diagnóstico por imagen , Adulto , Aneurisma Roto/etiología , Aneurisma Roto/terapia , Angiografía de Substracción Digital , Malformaciones Vasculares del Sistema Nervioso Central/complicaciones , Angiografía por Tomografía Computarizada , Procedimientos Endovasculares , Humanos , Aneurisma Intracraneal/etiología , Aneurisma Intracraneal/terapia , Imagen por Resonancia Magnética , Masculino , Arteria Cerebral Media/diagnóstico por imagen , Hemorragia Subaracnoidea/terapia , Tomografía Computarizada por Rayos XRESUMEN
Toxic encephalopathy is an important differential diagnosis in a child with encephalopathy and seizures. Subtle circumstantial evidence and apt neuroimaging features can significantly contribute to management, especially in a case of accidental exposure. 2, 4-D (ethyl ester) poisoning is a rare diagnosis, despite the common usage of this toxic compound as weedicide in northern India. The clinical similarity to the anticholinesterase poisoning, especially in the setting of agrochemical exposure is the main cause of under-diagnosis with usually fatal outcomes. We present an interesting case of accidental 2, 4-D (ethyl ester) poisoning in a child with typical neuroimaging features. A review of the literature regarding neuroimaging patterns of bilaterally symmetrical signal abnormalities involving basal ganglia in brain magnetic resonance imaging (MRI) from the point of view of clinical significance, is also discussed.
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Encefalopatías , Niño , Humanos , India , Imagen por Resonancia Magnética , Neuroimagen , Convulsiones/etiologíaRESUMEN
Primary laryngotracheal amyloidosis is a rare entity and can present with a very nonspecific symptom such as hoarseness of voice. We present one such case highlighting the radiological appearance with follow-up imaging so that one can identify computed tomography features of this rare entity if other clinical and histological conditions are met.