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Diabetic ketoacidosis (DKA) is a serious complication in children with diabetes mellitus type 1 (DM1). In rare and severe cases DKA may be complicated by cerebral edema, central brain herniation and cerebral infarctions. We present the magnetic resonance imaging findings in a child with DKA and central nervous system involvement; diffusion tensor imaging (DTI) and functional MRI (fMRI) were performed to assess the white matter integrity of sensory pathways and cortical sensory processing. Conventional imaging showed bilateral uncal herniation, effacement of the perimesencephalic cisterns, wide ischemic lesions in the posterior cerebral artery (PCA) territories, sagging brainstem and Duret's hemorrhage consistent with signs of central brain herniation and intracranial hypertension. Advanced MRI showed a possible left-sided cortical reorganization for sensory function, with underlying left cortico-talamic and cortico-spinal pathways less severely impaired. Knowledge of the full framework in these conditions is of vital importance for timely patient management; advanced neuroimaging techniques may be considered as prognostic indicators in those cases with extensive involvement of eloquent brain areas.
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BACKGROUND: Non-polio enteroviruses (EV) and human parechoviruses (HPeV) are known etiological agents of meningoencephalitis in neonates. However, reports of neuroradiological findings and neurodevelopmental outcomes in this population are scarce. OBJECTIVES: to describe clinical characteristics, neuroradiological findings and, in a subset of patients, neurodevelopmental outcomes in a cohort of infants with EV or HPeV meningoencephalitis within 60 days of life. STUDY DESIGN: clinical/laboratory data, neuroradiological findings (cranial ultrasound, cUS, brain magnetic resonance imaging, MRI), and neurodevelopmental outcomes assessed by Ages and Stages Questionnaires - third edition were prospectively collected. RESULTS: overall, 32 infants with EV (21, 67.8 %) or HPeV (11, 28.2 %) meningoencephalitis were enrolled. Infants with HPeV (73 %: type 3 HPeV) presented more frequently with seizures (18.2 % vs. 0, p value=0.03), lymphopenia (1120 vs. 2170 cells/mm3, p = 0.02), focal anomalies at electroencephalography (EEG) (63.6 vs. 23.8 %, p = 0.03), and pathological findings at MRI (72.7 % vs. 15.8 %, p value=0.004) compared to those affected by EV. cUS was not significantly altered in any of the enrolled infants. All infants with EV meningoencephalitis evaluated at 12-24 months and at 30-48 months were normal. Two out of the 7 infants with HPeV meningoencephalitis showed some concerns in gross motor (1/7, 14.3 %) or in problem solving (1/7, 14.3 %) function at 30-48 months of age. CONCLUSIONS: In our cohort, neonates infected by HPeV had more severe clinical manifestations, more alterations at brain MRI, and some signs of long-term neurodevelopmental delay. Our data highlight the heterogeneity of manifestations in infants with EV or HPeV meningoencephalitis, and the need for long-term follow-up of those infected by HPeV in the neonatal period.
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Infecções por Enterovirus , Enterovirus , Unidades de Terapia Intensiva Neonatal , Imageamento por Ressonância Magnética , Meningoencefalite , Parechovirus , Infecções por Picornaviridae , Humanos , Meningoencefalite/virologia , Meningoencefalite/diagnóstico por imagem , Estudos Prospectivos , Infecções por Picornaviridae/patologia , Infecções por Picornaviridae/virologia , Infecções por Enterovirus/virologia , Infecções por Enterovirus/patologia , Masculino , Recém-Nascido , Enterovirus/isolamento & purificação , Feminino , Lactente , Eletroencefalografia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encéfalo/virologiaRESUMO
OBJECTIVE: The study aims at comparing the diagnostic accuracy of qualitative and quantitative assessment of the susceptibility in the precentral gyrus in detecting amyotrophic lateral sclerosis (ALS) with predominance of upper motor neuron (UMN) impairment. METHODS: We retrospectively collected clinical and 3T MRI data of 47 ALS patients, of whom 12 with UMN predominance (UMN-ALS). We further enrolled 23 healthy controls (HC) and 15 ALS Mimics (ALS-Mim). The Motor Cortex Susceptibility (MCS) score was qualitatively assessed on the susceptibility-weighted images (SWI) and automatic metrics were extracted from the quantitative susceptibility mapping (QSM) in the precentral gyrus. MCS scores and QSM-based metrics were tested for correlation, and ROC analyses. RESULTS: The correlation of MCS score and susceptibility skewness was significant (Rho = 0.55, p < 0.001). The susceptibility SD showed an AUC of 0.809 with a specificity and positive predictive value of 100% in differentiating ALS and ALS Mim versus HC, significantly higher than MCS (Z = -3.384, p-value = 0.00071). The susceptibility skewness value of -0.017 showed specificity of 92.3% and predictive positive value of 91.7% in differentiating UMN-ALS versus ALS mimics, even if the performance was not significantly better than MCS (Z = 0.81, p = 0.21). CONCLUSION: The MCS and susceptibility skewness of the precentral gyrus show high diagnostic accuracy in differentiating UMN-ALS from ALS-mimics subjects. The quantitative assessment might be preferred being an automatic measure unbiased by the reader. CLINICAL RELEVANCE STATEMENT: The clinical diagnostic evaluation of ALS patients might benefit from the qualitative and/or quantitative assessment of the susceptibility in the precentral gyrus as imaging marker of upper motor neuron predominance. KEY POINTS: ⢠Amyotrophic lateral sclerosis diagnostic work-up lacks biomarkers able to identify upper motor neuron involvement. ⢠Susceptibility-weighted imaging/quantitative susceptibility mapping-based measures showed good diagnostic accuracy in discriminating amyotrophic lateral sclerosis with predominant upper motor neuron impairment from patients with suspected motor neuron disorder. ⢠Susceptibility-weighted imaging/quantitative susceptibility mapping-based assessment of the magnetic susceptibility provides a diagnostic marker for amyotrophic lateral sclerosis with upper motor neuron predominance.
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Esclerose Lateral Amiotrófica , Córtex Motor , Doença dos Neurônios Motores , Humanos , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Córtex Motor/diagnóstico por imagem , Estudos Retrospectivos , Neurônios Motores , Doença dos Neurônios Motores/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodosRESUMO
Granular cell tumors of the neurohypophysis (GCT) are rare benign neoplasms belonging, along with pituicytoma and spindle cell oncocytoma, to the family of TTF1-positive low-grade neoplasms of the posterior pituitary gland. GCT usually present as a solid sellar mass, slowly growing and causing compressive symptoms over time, occasionally with suprasellar extension. They comprise polygonal monomorphous cells with abundant granular cytoplasm, which is ultrastructurally filled with lysosomes. Here we report the case of a GCT presenting as a third ventricle mass, radiologically mimicking chordoid glioma, with aberrant expression of GFAP and Annexin-A, which lends itself as an example of an integrated diagnostic approach to sellar/suprasellar and third ventricle masses.
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Neoplasias do Ventrículo Cerebral , Craniofaringioma , Glioma , Tumor de Células Granulares , Neuro-Hipófise , Neoplasias Hipofisárias , Terceiro Ventrículo , Humanos , Neuro-Hipófise/metabolismo , Neuro-Hipófise/patologia , Terceiro Ventrículo/diagnóstico por imagem , Terceiro Ventrículo/patologia , Tumor de Células Granulares/diagnóstico por imagem , Tumor de Células Granulares/patologia , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias Hipofisárias/diagnóstico por imagem , Glioma/patologiaRESUMO
Wernicke's encephalopathy is an acute neuropsychiatric syndrome resulting from severe thiamine (vitamin B1) deficiency. Symptoms occur with an acute onset and may vary according to the brain area involved. Altered consciousness is the most common clinical feature, together with ocular abnormalities and ataxia. We report the case of a pregnant women affected by pre-gestational hyperthyroidism that caused an uncommon presentation of Wernicke's encephalopathy. Symptoms differed from the classic triad and diagnosis was made possible by a thorough analysis of anamnestic factors and brain MRI. Alongside thiamine supplementation, a multidisciplinary approach which included physiokinesis and a phoniatric support was fundamental for the patient's recovery.
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BACKGROUND: Acute otitis media has become a rare cause of facial palsy in children. A high index of suspicion is essential to achieve the diagnosis and to properly treat this condition to avoid permanent neurological sequelae. CASE PRESENTATION: A case of acute otitis media-related facial nerve palsy in an 18 months-old child is described and a review of the recent literature about the clinical presentation, diagnosis, and management of this condition is performed. CONCLUSIONS: Facial paralysis is an uncommon complication of acute otitis media that requires appropriate care. As highlighted in our report, the treatment of facial nerve palsy secondary to otitis media should be conservative, using antibiotics and corticosteroids. The role of antiviral is still a matter of debate. Myringotomy and a ventilation tube should be added when spontaneous perforation of the tympanic membrane is not present. More aggressive surgical approach should be considered only when there is no significant improvement.
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Paralisia Facial , Otite Média , Humanos , Criança , Lactente , Paralisia Facial/etiologia , Paralisia Facial/complicações , Nervo Facial , Otite Média/complicações , Otite Média/diagnóstico , Otite Média/tratamento farmacológico , Antibacterianos/uso terapêutico , Progressão da DoençaRESUMO
We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff-Parkinson-White syndrome. Whole-exome sequencing showed a pathogenic variant in the NRAS gene, but no mutations were found in PI3K/AKT/mTOR pathway genes.
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PURPOSE: To assess the role of flat panel computed tomography (FPCT) in the evaluation of cochlear implant (CI) electrode position and its relation to speech perception. METHODS: From March 2015 to March 2019, we retrospectively enrolled deaf subjects ≥â¯18 years who underwent unilateral CI by one surgeon, imaged with FPCT and assessed with disyllabic words score before CI and at 6 months of follow-up. We calculated the disyllabic score difference before CI and after CI (ΔSDS) and divided the subjects in favorable and unfavorable outcome groups using the median ΔSDS as a cutoff. We compared the demographic, clinical, electrode characteristics, and the CI positioning variables scalar position, surgical insertion depth (SID), linear insertion depth (LID), angular insertion depth (AID) and wrapping factor (WF). RESULTS: We studied 50 subjects (F/Mâ¯= 27/23; median ageâ¯= 60.5 years, IQR: 50-70 years). The median ΔSDS was 80% (interquartile range [IQR]: 60-100%) in quiet and 80% (IQR: 47.5-100%) in noise. Of the subjects 23 demonstrated a favorable outcome and had earlier age at CI (median 52 years; IQR 45-67 years versus median 62 years; IQR: 56-71 years pâ¯= 0.032) and a significantly higher SID (median: 4.02â¯mm IQR: 3.00-5.35â¯mm versus median: 2.94â¯mm IQR: 2.06-3.90â¯mm; pâ¯= 0.029). No difference was found for LID (pâ¯= 0.977), AID (pâ¯= 0.302), and WF (pâ¯= 0.224). A logistic regression model built with the age at CI, number of CI electrodes, and the SID was significant χ2 ((dfâ¯= 3, Nâ¯= 50)â¯= 14.517, pâ¯= 0.002). The model explained 33.7% (Nagelkerke R2) of ΔSDS variance and correctly classified 76% of the cases. CONCLUSION: The SID measured by FPCT predicts the ΔSDS at 6 months follow-up, alongside with age at implantation and number of CI electrodes.
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Implante Coclear , Implantes Cocleares , Percepção da Fala , Cóclea/cirurgia , Implante Coclear/métodos , Humanos , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
OBJECTIVES: The aim of our study was to investigate whether the magnetic susceptibility varies according to the amyotrophic lateral sclerosis (ALS) phenotypes based on the predominance of upper motor neuron (UMN)/lower motor neuron (LMN) impairment. METHODS: We retrospectively collected imaging and clinical data of 47 ALS patients (12 with UMN predominance (UMN-ALS), 16 with LMN predominance (LMN-ALS), and 19 with no clinically defined predominance (Np-ALS)). We further enrolled 23 healthy controls (HC) and 15 ALS mimics (ALS-Mim). These participants underwent brain 3-T magnetic resonance imaging (3-T MRI) with T1-weighted and gradient-echo multi-echo sequences. Automatic segmentation and quantitative susceptibility mapping (QSM) were performed. The skewness of the susceptibility values in the precentral cortex (SuscSKEW) was automatically computed, compared among the groups, and correlated to the clinical variables. RESULTS: The Kruskal-Wallis test showed significant differences in terms of SuscSKEW among groups (χ2(3) = 24.2, p < 0.001), and pairwise tests showed that SuscSKEW was higher in UMN-ALS compared to those in LMN-ALS (p < 0.001), HC (p < 0.001), Np-ALS (p = 0.012), and ALS-Mim (p < 0.001). SuscSKEW was highly correlated with the Penn UMN score (Spearman's rho 0.612, p < 0.001). CONCLUSION: This study demonstrates that the clinical ALS phenotypes based on UMN/LMN sign predominance significantly differ in terms of magnetic susceptibility properties of the precentral cortex. Combined MRI-histopathology investigations are strongly encouraged to confirm whether this evidence is due to iron overload in UMN-ALS, unlike in LMN-ALS. KEY POINTS: ⢠Magnetic susceptibility in the precentral cortex reflects the prevalence of UMN/LMN impairment in the clinical ALS phenotypes. ⢠The degree of UMN/LMN impairment might be well described by the automatically derived measure of SuscSKEW in the precentral cortex. ⢠Increased SuscSKEW in the precentral cortex is more relevant in UMN-ALS patients compared to those in Np-ALS and LMN-ALS patients.
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Esclerose Lateral Amiotrófica , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Neurônios Motores , Fenótipo , Estudos RetrospectivosRESUMO
OBJECTIVES: To distinguish amyotrophic lateral sclerosis (ALS) and its subtypes from ALS mimics and healthy controls based on the assessment of iron-related hypointensity of the primary motor cortex in susceptibility-weighted imaging (SWI). METHODS: We enrolled 64 patients who had undergone magnetic resonance imaging studies with clinical suspicions of ALS. The ALS group included 48 patients; the ALS-mimicking disorder group had 16 patients. The ALS group was divided into three subgroups according to the prevalence of upper motor neuron (UMN) or lower motor neuron (LMN) impairment, with 12 subjects in the UMN-predominant ALS group (UMN-ALS), 16 in the LMN-predominant ALS group (LMN-ALS), and 20 with no prevalent impairment (C-ALS). The Motor Cortex Susceptibility (MCS) score was defined according to the hypointensity of the primary motor cortex in the SWI sequence. Its diagnostic accuracy in differentiating groups was evaluated. RESULTS: The MCS was higher in the ALS group than in the healthy control and ALS-mimicking disorder groups (p < 0.001). Among ALS subgroups, the MCS was significantly higher in the UMN-ALS group than in the healthy control (p < 0.001), ALS-mimicking disorder (p = 0.002), and LMN-ALS groups (p = 0.002) and higher in the C-ALS group than in the healthy control group (p = 0.019). An MCS value ≥ 2 showed specificity and a positive predictive value of 100% in the detection of both UMN-ALS and C-ALS patients. CONCLUSIONS: The assessment of MCS in the SWI sequence could be a useful tool in supporting diagnosis in patients suspicious for ALS with prevalent signs of UMN impairment or with no prevalence signs of UMN or LMN impairment. KEY POINTS: ⢠The hypointensity of the primary motor cortex in susceptibility-weighted imaging could support the diagnosis of ALS. ⢠Our new qualitative score called MCS shows high specificity and positive predictive value in differentiating ALS patients with upper motor neuron impairment from patients with ALS-mimicking disorders and healthy controls.
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Esclerose Lateral Amiotrófica , Córtex Motor , Esclerose Lateral Amiotrófica/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Córtex Motor/diagnóstico por imagem , Neurônios Motores , FenótipoRESUMO
This article is the first of a two-part series on intracranial calcification in childhood. Intracranial calcification can be either physiological or pathological. Physiological intracranial calcification is not an expected neuroimaging finding in the neonatal or infantile period but occurs, as children grow older, in the pineal gland, habenula, choroid plexus and occasionally the dura mater. Pathological intracranial calcification can be broadly divided into infectious, congenital, endocrine/metabolic, vascular and neoplastic. The main goals in Part 1 are to discuss the chief differences between physiological and pathological intracranial calcification, to discuss the histological characteristics of intracranial calcification and how intracranial calcification can be detected across neuroimaging modalities, to emphasize the importance of age at presentation and intracranial calcification location, and to propose a comprehensive neuroimaging approach toward the differential diagnosis of the causes of intracranial calcification. Finally, in Part 1 the authors discuss the most common causes of infectious intracranial calcification, especially in the neonatal period, and congenital causes of intracranial calcification. Various neuroimaging modalities have distinct utilities and sensitivities in the depiction of intracranial calcification. Age at presentation, intracranial calcification location, and associated neuroimaging findings are useful information to help narrow the differential diagnosis of intracranial calcification. Intracranial calcification can occur in isolation or in association with other neuroimaging features. Intracranial calcification in congenital infections has been associated with clastic changes, hydrocephalus, chorioretinitis, white matter abnormalities, skull changes and malformations of cortical development. Infections are common causes of intracranial calcification, especially neonatal TORCH (toxoplasmosis, other [syphilis, varicella-zoster, parvovirus B19], rubella, cytomegalovirus and herpes) infections.
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Encefalopatias/diagnóstico por imagem , Encéfalo/diagnóstico por imagem , Calcificação Fisiológica , Calcinose/diagnóstico por imagem , Neuroimagem/métodos , Criança , Pré-Escolar , Humanos , Lactente , Recém-NascidoRESUMO
This article is the second of a two-part series on intracranial calcification in childhood. In Part 1, the authors discussed the main differences between physiological and pathological intracranial calcification. They also outlined histological intracranial calcification characteristics and how these can be detected across different neuroimaging modalities. Part 1 emphasized the importance of age at presentation and intracranial calcification location and proposed a comprehensive neuroimaging approach toward the differential diagnosis of the causes of intracranial calcification. Pathological intracranial calcification can be divided into infectious, congenital, endocrine/metabolic, vascular, and neoplastic. In Part 2, the chief focus is on discussing endocrine/metabolic, vascular, and neoplastic intracranial calcification etiologies of intracranial calcification. Endocrine/metabolic diseases causing intracranial calcification are mainly from parathyroid and thyroid dysfunction and inborn errors of metabolism, such as mitochondrial disorders (MELAS, or mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; Kearns-Sayre; and Cockayne syndromes), interferonopathies (Aicardi-Goutières syndrome), and lysosomal disorders (Krabbe disease). Specific noninfectious causes of intracranial calcification that mimic TORCH (toxoplasmosis, other [syphilis, varicella-zoster, parvovirus B19], rubella, cytomegalovirus, and herpes) infections are known as pseudo-TORCH. Cavernous malformations, arteriovenous malformations, arteriovenous fistulas, and chronic venous hypertension are also known causes of intracranial calcification. Other vascular-related causes of intracranial calcification include early atherosclerosis presentation (children with risk factors such as hyperhomocysteinemia, familial hypercholesterolemia, and others), healed hematoma, radiotherapy treatment, old infarct, and disorders of the microvasculature such as COL4A1- and COL4A2-related diseases. Intracranial calcification is also seen in several pediatric brain tumors. Clinical and familial information such as age at presentation, maternal exposure to teratogens including viruses, and association with chromosomal abnormalities, pathogenic genes, and postnatal infections facilitates narrowing the differential diagnosis of the multiple causes of intracranial calcification.
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Encefalopatias/diagnóstico por imagem , Encefalopatias/etiologia , Calcinose/diagnóstico por imagem , Calcinose/etiologia , Neuroimagem/métodos , Criança , Pré-Escolar , Humanos , Lactente , Recém-NascidoRESUMO
OBJECTIVES: We investigated whether prenatal magnetic resonance imaging (MRI) within 26 weeks of gestation (GW) may predict the fate of isolated upward rotation of the cerebellar vermis (URCV). METHODS: This retrospective multicentre observational study included foetuses diagnosed with isolated URCV in prenatal MRI performed within 26 GW. Isolated URCV was defined by a brainstem-vermis angle (BVA) ≥ 12° in the MR midline sagittal view without abnormalities of the supratentorial structures, brainstem, or cerebellum hemispheres. The assessments included the BVA, clival-supraoccipital angle, transverse diameter of the posterior cranial fossa, tentorial angle, width of the cisterna magna (WCM), ventricular width, vermian diameters, hypointense stripes, and cerebellar tail sign. Late prenatal or postnatal MRI was used as a reference standard to assess the final vermian fate (rotated/de-rotated). RESULTS: Forty-five foetuses (mean GW at prenatal MRI = 21.5 ± 1.4 weeks) were included. In the reference standard, the vermis was de-rotated in 26 cases (57.7%). At least two of the following criteria were used to predict the persistence of URCV at imaging follow-up: BVA ≥ 23°, WCM ≥ 9 mm, and the cerebellar tail sign. The results were a sensitivity of 84.21% (95% CI, 60.4-96.6%), specificity of 80.8% (95% CI, 60.6-93.4%), positive predictive value of 76% (95% CI, 58.7-87.8%), and negative predictive value of 87.5% (95% CI, 70.9-95.2%). CONCLUSIONS: MRI within 26 GW on foetuses diagnosed with isolated URCV may predict delayed cerebellar vermis de-rotation, which is associated with good neurodevelopmental outcome in most cases. KEY POINTS: ⢠Foetal MRI is a valuable tool in predicting the fate of isolated upward-rotated cerebellar vermis. ⢠A wider angle between the brainstem and vermis is associated with higher risk of persistence of vermian rotation. ⢠The presence of ≥ 2 factors among a brainstem-to-vermis angle ≥ 23°, width of the cisterna magna ≥ 9 mm, and the presence of the "cerebellar tail sign" has a sensitivity of 84.21% (95% CI, 60.4-96.6%) and specificity of 80.8% (95% CI, 60.6-93.4%) in predicting the persistence of the vermian rotation at imaging follow-up.
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Vermis Cerebelar/diagnóstico por imagem , Idade Gestacional , Anormalidade Torcional/diagnóstico por imagem , Tronco Encefálico , Vermis Cerebelar/anormalidades , Vermis Cerebelar/embriologia , Cerebelo/diagnóstico por imagem , Fossa Craniana Posterior , Diagnóstico Diferencial , Feminino , Feto , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez , Diagnóstico Pré-Natal , Remissão Espontânea , Estudos Retrospectivos , Sensibilidade e Especificidade , Anormalidade Torcional/embriologiaRESUMO
OBJECTIVE: To describe clinical and imaging findings in a group of patients affected by nonsyndromic deafness A9 (DFNA9), using advanced magnetic resonance imaging (MRI) with 3-dimensional (3D) fluid-attenuated inversion recovery (FLAIR) sequence. METHOD: A retrospective case review was conducted in a tertiary referral center in Italy. Four sequential adult DFNA9-affected patients, who had undergone MRI at our Department between January 2017 and June 2018, were enrolled (male = 2, female = 2; median age: 65.6 years; 8 diseased ears analyzed). Three patients were relatives; the fourth was unrelated. The main outcome measures - age, sex, records of audiological and vestibular testing, genetic assessment, MRI findings - were analyzed. RESULTS: All subjects suffered from bilateral progressive sensorineural hearing loss, more severely at the high frequencies and with a typical clinical pattern of bilateral chronic degenerative cochleovestibular deficit. Aural fullness was reported at the onset of the disease. All patients revealed a pathogenic heterozygous mutation in the Limulus factor C, Coch-5b2 and Lgl1 domain of cochlin. None of the patients showed a significant vestibular and cochlear endolymphatic hydrops at MRI, while high bilateral contrast enhancement on 4-h delayed postcontrast 3D FLAIR sequence was observed in all ears. CONCLUSIONS: Increased perilymph enhancement on 4-h delayed postcontrast 3D FLAIR sequence is the common imaging feature of DFNA9 ears, suggesting that blood-labyrinthine barrier breakdown may play the main role in the pathophysiology of this disease. Significant hydrops has been excluded by MRI. This finding might be clinically useful in differentiating DFNA9 disease from other pathologies with similar clinical findings like Ménière's disease.
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Surdez/diagnóstico por imagem , Proteínas da Matriz Extracelular/genética , Perda Auditiva Neurossensorial/diagnóstico por imagem , Mutação , Fenótipo , Adulto , Idoso , Surdez/genética , Feminino , Perda Auditiva Neurossensorial/genética , Heterozigoto , Humanos , Itália , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Perilinfa/diagnóstico por imagem , Estudos Retrospectivos , Vestíbulo do Labirinto/diagnóstico por imagemRESUMO
Disorders of the ventral induction give rise to a group of congenital malformations that share in common the failure of the prosencephalon cleavage and subsequent formation of midline structures, presenting with a wide spectrum of severity. This article focuses on the imaging findings of the holoprosencephaly spectrum and septo-optic dysplasia, their epidemiology, embryology, and the common clinical associated anomalies. Knowledge of the imaging features of these disorders is necessary for a correct interpretation of findings and accurate parental counseling. Diagnostic evaluation of patients should include molecular screening and genetic counseling to characterize prognosis and risk of recurrence.
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Encéfalo/anormalidades , Encéfalo/diagnóstico por imagem , Holoprosencefalia/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , HumanosRESUMO
BACKGROUND AND PURPOSE: A detailed knowledge of the normal Magnetic Resonance (MR) anatomy of the vestibular endolymphatic space (ES) could be useful to understand the linkage between endolymphatic hydrops (EH) and Ménière's disease (MD). Our aim was to describe the MR anatomy of the vestibular ES as depicted by MR imaging in healthy ears. METHODS: This report describes a single-center retrospective study. Three readers analyzed the healthy ears of 22 consecutive patients who had undergone MRI for unilateral sudden hearing loss. The readers described the vestibular ES based on a delayed post-contrast 3D-FLAIR sequence according to six well-defined planes, three oblique sagittal (lateral, intermediate and medial) planes and three axial (superior, intermediate and inferior) planes. RESULTS: On sagittal lateral and intermediate planes, we identified the SSC ampulla combined with the utricle in 22/22 ears. On the sagittal medial plane, the saccule was detectable in 15/22 (68%) ears, having a club shape with the long axis oriented cranio-caudally; in 7/22 (32%) ears, the saccule presented an oval/round shape that appeared more conspicuously on the axial intermediate plane. The ES occupied the half superior portion of the vestibule in 22/22 ears, never contacting the round and oval windows. On the axial plane, in 17/22 cases, the ES showed a Y-shaped arrangement, while in 5/22 ears (23%), the ES presented a more globular shape. CONCLUSION: MR imaging represents a valid tool to explore the in vivo anatomy of the vestibular ES and to highlight its variability in normal ears.
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Vestíbulo do Labirinto/anatomia & histologia , Adulto , Idoso , Cóclea/anatomia & histologia , Hidropisia Endolinfática/patologia , Feminino , Voluntários Saudáveis , Perda Auditiva Súbita/etiologia , Perda Auditiva Súbita/patologia , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Doença de Meniere/patologia , Pessoa de Meia-Idade , Janela do Vestíbulo/anatomia & histologia , Estudos Retrospectivos , Vestíbulo do Labirinto/patologiaRESUMO
Recurrence of HCC reduces survival rates in patients treated with surgery, and one of the most relevant risk factors for tumour recurrence is microvascular invasion (mVI). The identification of mVI on preoperative examinations could improve surgical planning's and techniques so as to reduce the risk of tumour recurrence. During our study, we have revised 101 CT examinations of the liver performed on patients diagnosed with solitary HCC who had surgical treatment and pathological analysis of the specimens for mVI in order to detect CT signs which could be reliable in mVI prediction. On CT examinations, the tumours were evaluated for margins, capsule, size, contrast enhancement, halo sign and Thad. From our statistical analysis, we found out that irregularity in tumour margins and defects in peritumoural capsule are the most significant characteristics predicting mVI in HCC. Every report on CT examinations performed on surgical candidate patients should include suggestions about mVI probability in order to tailor procedures, reduce tumour recurrence risk and improve survival rates.
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Carcinoma Hepatocelular/irrigação sanguínea , Neoplasias Hepáticas/irrigação sanguínea , Carcinoma Hepatocelular/diagnóstico por imagem , Carcinoma Hepatocelular/patologia , Feminino , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Tomografia Computadorizada por Raios XRESUMO
Specific contrast agents have been developed for x ray examinations (mainly CT), sonography and Magnetic Resonance Imaging. Most of them are extracellular agents which create different enhancement on basis of different vascularization or on basis of different interstitial network in tissues, but some can be targeted to a particular cell line (e.g. hepatocyte). Microbubbles can be used as carrier for therapeutic drugs which can be released in specific targets under sonographic guidance, decreasing systemic toxicity and increasing therapeutic effect. Radiologists have to choose a particular contrast agent knowing its physical and chemical properties and the possibility of adverse reactions and balancing them with the clinical benefits of a more accurate diagnosis. As for any drug, contrast agents can cause adverse events, which are more frequent with Iodine based CA, but also with Gd based CA and even with sonographic contrast agents hypersensitivity reaction can occur.