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Renal cell carcinoma accounts for more than 3% of all malignant diseases. Metastatic disease to the head and neck ranges from 15% to 30%. The 5-year survival rate after nephrectomy is 60% to 75%, but with multiorgan metastases the 5-year survival rate is significantly lower, 0% to 7%. The authors present the case of a patient with a progressive, painless right facial swelling over the maxillary area of 3-month's duration associated with a considerable decrease of right visual acuity. Cranial computed tomography scan and magnetic resonance imaging showed a maxillary sinus mass extending to the orbital cavity and 2 choroidal and retinal thickenings. The mass biopsy was performed by Caldwell-Luc procedure and pathology report suggested metastatic renal cell carcinoma. Following histological findings, a total body computed tomography scan showed a heterogeneous mass at the middle-lower portion of the right kidney measuring approximately 8â×â12â×â4âcm with associated ipsilateral renal vein thrombosis. The patient was referred to the Oncology Department for further treatment. Unfortunately, 3 months after the mass biopsy, the patient died due to complications of multiorgan failure. Although metastases of renal cell carcinoma to the head and neck are very rare, it should be first suspected when investigating a metastatic tumor in this region.
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Carcinoma de Células Renales/diagnóstico por imagen , Neoplasias Renales/diagnóstico por imagen , Neoplasias del Seno Maxilar/diagnóstico por imagen , Neoplasias del Seno Maxilar/patología , Biopsia , Carcinoma de Células Renales/secundario , Resultado Fatal , Humanos , Neoplasias Renales/patología , Imagen por Resonancia Magnética , Masculino , Neoplasias del Seno Maxilar/secundario , Persona de Mediana Edad , Tomografía Computarizada por Rayos XRESUMEN
Postmor tem computed tomography is widely used in the forensic pathology setting as supplementing medico-legal investigations and being capable of providing significant data that affect final conclusions and adding new quality to recording postmortem observations. The integration with angiographic methods [postmortem computed tomography angiography and multiphase postmortem CT angiography (MPMCTA)] allows the examination of the cardiovascular system and it is increasingly being utilised in the field of forensic pathology. However, using the standardised procedure that establishes the femoral vessels on one side of the corpse as an access point to the vascular system, visualisation of the vascular tree below the cannula insertion site is excluded. Consequently, visualisation of the vascular anatomy and morphology of the lower limbs is impossible and lesions such as thrombosis of the superficial and deep venous system may remain elusive. Bearing in mind the high incidence of pulmonary thromboembolism in forensic case studies and the difficulties in postmortem diagnosis, we propose a new axillary approach for MPMCTA that allows the full detection of the vascular system of the lower limbs.
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Angiografía/métodos , Autopsia/métodos , Tromboembolia/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Axila , HumanosRESUMEN
[This corrects the article DOI: 10.1016/j.radcr.2020.10.057.].
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McKusick-Kaufman syndrome (MKS, OMIM #236700) is a rare syndrome inherited in an autosomal recessive pattern with a phenotypic triad comprising hydrometrocolpos (HMC), postaxial polydactyly (PAP), and congenital cardiac disease (CHD). The syndrome is caused by mutations in the MKKS gene mapped onto chromosome 20p12 between D20S162 and D20S894 markers. Mutations in the same gene causes Bardet-Biedl-6 syndrome (BBS-6, OMIM #209900) inherited in an autosomal recessive pattern. BBS-6 comprises retinitis pigmentosa, polydactyly, obesity, mental retardation, renal and genital anomalies. HMC, CHD, and PAP defects can also occur in BBS-6, and there is a significant clinical overlap between MKS and BBS-6 in childhood. We describe a new borderline case of MKS and BBS syndrome and suggest insights for understanding correlation between MKKS gene mutations and clinical phenotype. Here, we report the results of molecular analysis of MKKS in a female proband born in an Italian nonconsanguineous healthy family that presents HMC and PAP. The mutational screening revealed the presence of two different heterozygous missense variants (p.242A>S in exon 3, p.339 I>V in exon 4) in the MKKS gene, and a nucleotide variation in 5'UTR region in exon 2 (-417 A>C).
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Posterior reversible encephalopathy syndrome (PRES) is a variable etiology clinical syndrome with similar neuroimaging results and clinical symptoms. PRES can develop in both adults and children and is characterized by headaches, disorders of consciousness, seizures and especially focal visual disturbances, often associated with hypertensive state. In most cases, symptoms resolve without neurological consequences. The treatment strategy concerns early diagnosis and general measures to correct the underlying cause of PRES. Here, we report a case of PRES that occurs in a 6-year-old child with nephrotic syndrome.
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Postmortem imaging is a fascinating field of forensic radiology that has seen extraordinary growth in the last 10 years. Indeed, if autopsy represents the sole reliable method of determining the definitive cause of death, imaging may provide an efficient guide to supplement conventional autopsy. This is particularly true because of several techniques that are currently available, such as postmortem computed tomography, multiphase postmortem computed tomography angiography, and postmortem magnetic resonance imaging. In this review, we explore the newer imaging techniques in forensic radiology.
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Autopsia/métodos , Medicina Legal/métodos , Imagen por Resonancia Magnética/métodos , Tomografía Computarizada por Rayos X/métodos , HumanosRESUMEN
Accessory spleen (AS) is a condition found in about 20% of patients and is most commonly located in the hilar region of the spleen. It is more often asymptomatic, single, and smaller than 2 cm. In the present study, we report the rare case of a 13-year-old boy with giant accessory spleen underwent spontaneous intrasplenic hemorrhage who presented with recurrent abdominal pain. Contrast-enhanced MRI was mandatory for the diagnosis before surgical procedure.
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An 8-year-old girl was admitted during the night in our emergency department for an acute episode of seizures. The patient underwent computed-tomography (CT) brain scan (Toshiba ® Aquilion 64-TSX-101A/HC) and magnetic resonance imaging (MRI) brain scan (Philips® Achieva 1.5T). CT scan showed left frontal calcified nodules and calcified periventricular subependymal nodules. Subsequently, MRI evaluation revealed cortical and subcortical nodules that showed low signal with respect to the white matter on T1-weighted imaging sequences and high signal both in T2-weighted imaging sequences and in fluid-attenuated inversion recovery sequences. We also showed a herniation of cerebellar tonsils through the foramen magnum (Chiari malformation Type I [CMI]) with the associated hydrosyringomyelic cavity. Our report showed a rare association between tuberous sclerosis complex and CMI.
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Burkitt's lymphoma (BL) is an aggressive B-cell non-Hodgkin lymphoma that is found predominantly in children, with the highest incidence occurring in Africa. The sporadic form occurs in non-endemic areas and typically involves the ileo-caecum and the bowel, whereas orbital and paranasal sinus involvement is rare. Here, we present an unusual case of sporadic BL in a Caucasian male child with rapidly progressive painful proptosis of the right eye. Magnetic resonance imaging showed an oval-shaped, extraconal mass in the supero-lateral part of the right orbit that deformed and dislocated the eyeball antero-inferiorly. The patient underwent anterior orbitotomy, and a biopsy of the excised tissue revealed a starry-sky appearance characteristic of BL. Postoperative aggressive chemotherapy was initiated with a good response after one week.
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Linfoma de Burkitt/patología , Exoftalmia/patología , Neoplasias Orbitales/patología , Linfoma de Burkitt/complicaciones , Linfoma de Burkitt/diagnóstico por imagen , Preescolar , Exoftalmia/diagnóstico por imagen , Exoftalmia/etiología , Humanos , Imagen por Resonancia Magnética , Masculino , Neoplasias Orbitales/complicaciones , Neoplasias Orbitales/diagnóstico por imagenRESUMEN
Complete androgen insensitivity syndrome (CAIS) is an X-linked, recessive disorder caused by mutations of the androgen receptor (AR), in which genetic males (46,XY) show female external genitalia. Individuals with CAIS have mostly normal external genitalia, lack of Müllerian structures (Fallopian tubes, uterus, proximal portion of the vagina) and undescended testes (intra-abdominal, inguinal, or labial). Management and diagnosis of CAIS should be undertaken by a multidisciplinary team of experts in sexual development disorders. Gonadectomy represents a standard therapeutic choice to prevent testicular malignancy in the prepubertal period, with subsequent hormonal replacement therapy, or in late adolescence, after completion of pubertal development. Imaging examinations play a pivotal role in the diagnosis, assessment, and detection of the gonads before surgical treatments. Magnetic resonance imaging (MRI) is the gold standard to diagnose and locate the gonads, and to plan laparoscopic gonadectomy and gonadic surveillance, in particular in the increasingly large number of patients who decide to delay or ultimately not to undergo gonadectomy. We present a case of a 14-year-old female with primary amenorrhea.
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OBJECTIVE: Primary pigmented nodular adrenocortical disease (PPNAD), an uncommon cause of Cushing's syndrome, is frequently associated with a wider clinical spectrum, the Carney complex (CC), a multiple endocrine neoplasia syndrome. DESIGN: We evaluated a low-dose mitotane regimen for treating severe hypercortisolism in a 27-year-old woman with CC. She presented with severe hypercortisolism and a history of surgeries for breast ductal adenoma, atrial cardiac myxomas with cerebral and peripheral arterial embolism, and near-total thyroidectomy because of an oxyphilic adenoma. The patient refused further surgery for adrenalectomy. RESULTS: During the first 7 months of mitotane (Lysodren, HRA Pharma, Paris, France), the daily oral dose was progressively increased from 0.5 to 4 g/day and then stopped because of the appearance of sustained signs of hypoadrenalism, that required a replacement therapy with 5 mg of prednisone o.d. A 10-month mitotane off-therapy follow-up was performed and when an increase in urine free cortisol (UFC) was noted, the mitotane regimen was restarted at lower doses (0.750-1 g/day). Serum morning cortisol levels and UFC were then maintained within the normal range, with plasma mitotane ranging between 2 and 4 mg/L. A sustained regression of Cushing's features without inducing hypoadrenalism was achieved, which still persists after 122 months of follow-up. Minimal initial gastric discomfort was the only side effect of which the patient complained and only during the first higher dose mitotane course. CONCLUSIONS: Long-term administration of a low maintenance dose of mitotane may be suggested as treatment for hypercortisolism in CC patients who refuse or are at high risk for surgical adrenalectomy.
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Antineoplásicos Hormonales/uso terapéutico , Complejo de Carney/tratamiento farmacológico , Síndrome de Cushing/tratamiento farmacológico , Mitotano/uso terapéutico , Adulto , Antineoplásicos Hormonales/farmacología , Femenino , Estudios de Seguimiento , Humanos , Mitotano/farmacologíaRESUMEN
We report a 33 year-old woman addicted to chronic unspecified solvents abuse with stupor, respiratory disorders, tetraplegia and severe metabolic acidosis. On admission an unenhanced cranial CT scan showed symmetrical hypodensities of both lentiform nuclei. MR imaging performed 12 hours after stupor demonstrates bilateral putaminal hemorrhagic necrosis, bilateral external capsule, corona radiata and deep cerebellar hyperintensities with right cingulate cortex involvement. DWI reflected bilateral putaminal hyperintensities with restricted water diffusion as to citotoxic edema and development of vasogenic edema in the external capsule recalling a fork. On day twenty, after specific treatments MRI demonstrated a bilateral putaminal marginal enhancement. Bilateral putaminal necrosis is a characteristic but non-specific radiological finding of methanol poisoning. Lentiform Fork sign is a rare MRI finding reported in literature in 22 patients with various conditions characterized by metabolic acidosis. Vasogenic edema may be due to the differences in metabolic vulnerability between neurons and astrocytes. We postulate that metabolic acidosis could have an important role to generate this sign.
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Acidosis/patología , Encefalopatías Metabólicas/patología , Cuerpo Estriado/patología , Imagen por Resonancia Magnética/métodos , Enfermedad Aguda , Adulto , Femenino , Humanos , MasculinoRESUMEN
Resting state electroencephalographic (EEG) rhythms do not deteriorate with the increase of white matter vascular lesion in amnesic mild cognitive impairment (MCI) subjects [1], although white matter is impaired along Alzheimer's disease (AD). Here we tested whether this is true even in AD subjects. Closed-eye resting state EEG data were recorded in 40 healthy elderly (Nold), 96 amnesic MCI, and 83 AD subjects. White matter vascular lesions were indexed by magnetic resonance imaging recorded in the MCI and AD subjects (about 42% of cases following ADNI standards). The MCI subjects were divided into two sub-groups based on the median of the white matter lesion, namely MCI+ (people with highest vascular load; n = 48) and MCI- (people with lowest vascular load; n = 48). The same was true for the AD subjects (AD+, n = 42; AD-, n = 41). EEG rhythms of interest were delta (2-4 Hz), theta (4-8 Hz), alpha1 (8-10.5 Hz), alpha2 (10.5-13 Hz), beta1 (13-20 Hz), beta2 (20-30 Hz), and gamma (30-40 Hz). LORETA software estimated cortical EEG sources. When compared to Nold group, MCI and AD groups showed well known abnormalities of delta and alpha sources. Furthermore, amplitude of occipital, temporal, and limbic alpha 1 sources were higher in MCI+ than MCI- group. As a novelty, amplitude of occipital delta sources was lower in AD+ than AD- group. Furthermore, central, parietal, occipital, temporal, and limbic alpha sources were higher in amplitude in AD+ than AD- group. Amplitude of these sources was correlated to global cognitive status (i.e., Mini Mental State Evaluation score). These results suggest that in amnesic MCI and AD subjects, resting state posterior delta and alpha EEG rhythms do not deteriorate with the increase of white-matter vascular lesion. These rhythms might be more sensitive to AD neurodegenerative processes and cognitive status rather than to concomitant lesions to white matter.