RESUMO
Leukoencephalopathy with cerebral calcifications and cysts (LCC) is a neurological disorder characterized by the radiological triad of white matter abnormalities, intracranial calcifications and cystic lesions variable in size resulting from a diffuse cerebral microangiopathy. Typically, progressive focal neurological deficits and seizures are the first clinical manifestation, but the severity of symptoms can vary according to the size and location of the cystic lesions holding compressive effects on the surrounding brain tissue. The most common histopathological finding is diffuse microangiopathy, which might be associated to pathogenic mutations in SNORD118 gene causing Labrune syndrome. Similar neuroradiological appearances have been found in the Coats plus syndrome, a systemic disorder caused by a genetic diffuse microangiopathy that affects not only the brain but also the retina and multiple organs, with a more complex clinical picture that address the diagnosis; biallelic mutations in CTC1 gene, encoding the conserved telomere maintenance component 1 (CTC1), are responsible of this systemic disorder. The aim of this contribution is to review the existing literature focusing on the neuroimaging characteristics by reporting cases in which radiological findings were highly suggestive for LCC.
Assuntos
Neoplasias Encefálicas , Doenças de Pequenos Vasos Cerebrais , Cistos , Leucoencefalopatias , Cistos/complicações , Cistos/diagnóstico por imagem , Cistos/genética , Humanos , Leucoencefalopatias/diagnóstico por imagem , Leucoencefalopatias/genética , Imageamento por Ressonância Magnética , NeuroimagemRESUMO
OBJECTIVE: The aim of our study was to evaluate the diagnostic and prognostic value of Electroencephalogram (EEG), brain Magnetic Resonance Imaging (MRI) and cerebrospinal fluid features, currently representing Creutzfeldt-Jacob Disease (CJD) diagnostic criteria. METHODS: A retrospective study on rapidly progressive dementia patients admitted at the Neurology Clinic of the University of Rome "Tor Vergata" between 2015 and 2020 was conducted. We evaluated clinical, EEG, cerebrospinal fluid and neuroradiological findings. RESULTS: Our analysis included 13 patients with probable CJD and 18 patients with non-CJD rapidly progressive dementia. Periodic sharp wave complexes were observed in 7/13 CJD and in 4/18 non-CJD patients (p =.151). The sub-analysis according to the EEG features revealed that CJD patients with earlier periodic sharp wave complexes had a significantly lower average survival time (p =.003), a shorter time to admission (p =.003) and lower levels of cerebrospinal fluid p-tau (p =.008) compared to CJD patients without periodic sharp wave complexes. Finally, they did not show signs of signal alteration on Fluid Attenuated Inversion Recovery images. CONCLUSIONS: Despite the lowest diagnostic specificity and sensibility among the CJD criteria, periodic sharp wave complexes could identify a distinctive phenotype hallmarked by a faster evolution, a reduced survival time and specific MRI and cerebrospinal fluid features. SIGNIFICANCE: The early presence of the typical EEG pattern may play a prognostic role in CJD.
Assuntos
Síndrome de Creutzfeldt-Jakob , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Síndrome de Creutzfeldt-Jakob/diagnóstico por imagem , Eletroencefalografia , Humanos , Imageamento por Ressonância Magnética , Fenótipo , Estudos RetrospectivosRESUMO
Hydatidosis is a common parasitic zoonosis in Middle Eastern, African, and Mediterranean populations whit primarily and well known involve of liver and lungs, but some complications are extremely rare and underrated. Particularly Hydatid cystic disease of the skeletal is one of the rarest clinical manifestations and when occurs involve in almost 50% of cases the spine. This manifestation is extremely debilitating, hard to correctly identify and manage. We want to underline this rare involve of spine to avoid misdiagnosis and complications.
RESUMO
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by homozygous mutations in SACSgene. We present finding on MR imaging in 2 adult Italian siblings. According to the literature we have described same of typical MRI finding of autosomal recessive spastic ataxia of Charlevoix-Saguenay disease. We found slight differences in neuroimaging pattern in our patients with a similar genotype but different age and clinical severity, this suggest that brain MRI may provide potential biomarkers to assess disease progression.
RESUMO
We present the case of an adult male who arrived to our emergency room with progressive dyspnea that had been ongoing for 2 months. During the radiological investigation, we found a large intracardiac mass, which invaded the pericardium, pulmonary trunk, pulmonary arteries, and left ventricle. Studies done with the 18FDG-PET/CT scan helped us to determine the malignant nature of the mass and to suspect the diagnosis of rhabdomyosarcoma.