Artificial intelligence and radiation effects on brain tissue in glioblastoma patient: preliminary data using a quantitative tool.

PURPOSE: The quantification of radiotherapy (RT)-induced functional and morphological brain alterations is fundamental to guide therapeutic decisions in patients with brain tumors. The magnetic resonance imaging (MRI) allows to define structural RT-brain changes, but it is unable to evaluate early injuries and to objectively quantify the volume tissue loss. Artificial intelligence (AI) tools extract accurate measurements that permit an objective brain different region quantification. In this study, we assessed the consistency between an AI software (Quibim Precision® 2.9) and qualitative neruroradiologist evaluation, and its ability to quantify the brain tissue changes during RT treatment in patients with glioblastoma multiforme (GBM). METHODS: GBM patients treated with RT and subjected to MRI assessment were enrolled. Each patient, pre- and post-RT, undergoes to a qualitative evaluation with global cerebral atrophy (GCA) and medial temporal lobe atrophy (MTA) and a quantitative assessment with Quibim Brain screening and hippocampal atrophy and asymmetry modules on 19 extracted brain structures features. RESULTS: A statistically significant strong negative association between the percentage value of the left temporal lobe and the GCA score and the left temporal lobe and the MTA score was found, while a moderate negative association between the percentage value of the right hippocampus and the GCA score and the right hippocampus and the MTA score was assessed. A statistically significant strong positive association between the CSF percentage value and the GCA score and a moderate positive association between the CSF percentage value and the MTA score was found. Finally, quantitative feature values showed that the percentage value of the cerebro-spinal fluid (CSF) statistically differences between pre- and post-RT. CONCLUSIONS: AI tools can support a correct evaluation of RT-induced brain injuries, allowing an objective and earlier assessment of the brain tissue modifications.

ODLURO syndrome: personal experience and review of the literature.

INTRODUCTION: The O'Donnell-Luria-Rodan (ODLURO) syndrome, caused by heterozygous mutation in the lysine N-methyltransferase2E (KMT2E) gene in chromosome 7q22, has been recently described. Mutation of KMT2E produces a protein-truncating variant gene that may be responsible for both developmental delay and intellectual disability disorders commonly defined by an Intelligence Quotient < 70 and usually unspecific pathologic brain features demonstrated by brain Magnetic Resonance imaging. The symptoms of ODLURO syndrome include variably developmental and speech delay, autism, seizures, hypotonia, and dysmorphic features. The aim of the study is to search for correlation between this specific gene mutation and clinical/radiological features, trying to provide new insights in this recently described pathological condition. METHODS: We reviewed the 38 cases collected by O'Donnel-Luria et al., adding three cases of a familial heterozygosis novel mutation in KMT2E gene; different degrees of neurological disorder, subtle dysmorphic features, intellectual disability, epilepsy, and various brain Magnetic Resonance features are described. RESULTS: Magnetic Resonance data were integrated by genetic analysis and clinical features. Brain Magnetic Resonance study of our patients confirmed peculiar pathologic features previously reported in ODLURO syndrome; cerebellar dysplasia was identified in one of them. All 3 patients had epilepsy, intellectual disability, and mild dysmorphisms. CONCLUSIONS: Our study adds 3 new patients genetically, clinically, and radiologically evaluated to the ODLURO syndrome case series. While CC hypoplasia and widening of subarachnoid spaces are already reported in literature, we document for the first time the presence of cerebellar dysplasia in ODLURO syndrome. We also highlight the extremely low IQ value and the presence of epilepsy in all 3 patients.

An intramedullary "flame" recognized as being an intramedullary spinal cord metastasis from esophageal cancer.

Intramedullary spinal cord metastases are rarely encountered in patients suffering from extra - central nervous system primary cancer, with only 2 described cases reported in the literature deriving from esophageal cancer. Intramedullary spinal cord metastases may occur at any level of the spinal cord but cervical location is the most frequent. We report the first case of intramedullary metastasis affecting the thoracic spinal cord from esophageal squamous cell carcinoma in a 35-year-old patient.

A challenging diagnosis of late-onset tumefactive multiple sclerosis associated to cervicodorsal syringomyelia: doubtful CT, MRI, and bioptic findings: Case report and literature review.

BACKGROUND: Tumefactive multiple sclerosis (MS) is an unusual variant of demyelinating disease characterized by lesions with pseudotumoral appearance on radiological imaging mimicking other space-occupying lesions, such as neoplasms, infections, and infarction. Especially when the patient's medical history is incompatible with MS, the differential diagnosis between these lesions constitutes a diagnostic challenge often requiring histological investigation. An older age at onset makes distinguishing tumefactive demyelinating lesion (TDL) from tumors even more challenging. METHODS: We report a case of brain TDL as the initial manifestation of late-onset MS associated with cervico-dorsal syringomyelia. A 66-year-old Caucasian woman with a 15-day history headache was referred to our hospital because of the acute onset of paraphasia. She suffered from noncommunicating syringomyelia associated to basilar impression and she reported a 10-year history of burning dysesthesia of the left side of the chest extended to the internipple line level. RESULTS: Computed tomography (CT) and magnetic resonance imaging (MRI) examinations revealed a left frontal lesion with features suspicious for a tumor. Given the degree of overlap with other pathologic processes, CT and MRI findings failed to provide an unambiguous diagnosis; furthermore, because of the negative cerebrospinal fluid analysis for oligoclonal bands, the absence of other lesions, and the heightened suspicion of neoplasia, the clinicians opted to perform a stereotactic biopsy. Brain specimen analysis did not exclude the possibility of perilesional reactive gliosis and the patient, receiving anitiedemigen therapy, was monthly followed up. In the meanwhile, the second histological opinion of the brain specimen described the absence of pleomorphic glial cells indicating a tumor. These findings were interpreted as destructive inflammatory demyelinating disease and according to the evolution of MRI lesion burden, MS was diagnosed. CONCLUSION: TDL still remains a problematic entity clinically, radiologically, and sometimes even pathologically. A staged follow-up is necessary, and in our case, it revealed to be the most important attitude to define the nature of the lesion, confirming the classic MS diagnostic criteria of disseminate lesions in time and space. We discuss our findings according to the recent literature.

Foix-Chavany-Marie syndrome in a 17-year-old female with congenital cytomegalovirus infection.

Foix-Chavany-Marie syndrome is characterized by bilateral facio-glosso-pharyngo-masticatory paralysis of voluntary movement due to bilateral anterior opercular lesions. We describe the case of a 17-year-old female affected by Foix-Chavany-Marie syndrome and congenital cytomegalovirus infection, evaluating the possible etiopathogenetic correlation between cerebral cortical dysplasia and intrauterine infections.

Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.

Neurofibromatosis type 1 (NF1) is a relatively common single-gene disorder, and is caused by heterozygous mutations in the NF1 gene that result in a loss of activity or in a nonfunctional neurofibromin protein. Despite the common association of NF1 with neurocutaneous features, its pathology can extend to numerous tissues not derived from the neural crest. Among the rare cerebrovascular abnormalities in NF1, more than 85% of cases are of purely occlusive or stenotic nature, with intracranial aneurysm being uncommon. Predominantly, the aneurysms are located in the internal carotid arteries (ICAs), being very rare bilateral aneurysms. This report describes a very unusual case of fusiform aneurysms of both ICAs in a Caucasian NF1 patient, with a new pathogenic intragenic heterozygous deletion of the NF1 gene, presenting at age 22 years with Tolosa-Hunt syndrome, because of partial thrombosis of the left giant intracavernous aneurysm. Medical treatment with anticoagulant therapy allowed a good outcome for the patient. In conclusion, early identification of cerebral arteriopathy in NF1 and close follow-up of its progression by neuroimaging may lead to early medical or surgical intervention and prevention of significant neurologic complications.

Recurrent glioblastoma multiforme versus radiation injury: a multiparametric 3-T MR approach.

OBJECTIVE: The discrimination between recurrent glioma and radiation injury is often a challenge on conventional magnetic resonance imaging (MRI). We verified whether adding and combining proton MR spectroscopic imaging ((1)H-MRSI), diffusion-weighted imaging (DWI) and perfusion-weighted imaging (PWI) information at 3 Tesla facilitate such discrimination. MATERIALS AND METHODS: Twenty-nine patients with histologically verified high-grade gliomas, who had undergone surgical resection and radiotherapy, and had developed new contrast-enhancing lesions close to the treated tumour, underwent MRI, (1)H-MRSI, DWI and PWI at regular time intervals. The metabolite ratios choline (Cho)/normal( n )Cho n , N-acetylaspartate (NAA)/NAA n , creatine (Cr)/Cr n , lactate/lipids (LL)/LL n , Cho/Cr n , NAA/Cr n , Cho/NAA, NAA/Cr and Cho/Cr were derived from (1)H-MRSI; the apparent diffusion coefficient (ADC) from DWI; and the relative cerebral blood volume (rCBV) from PWI. RESULTS: In serial MRI, recurrent gliomas showed a progressive enlargement, and radiation injuries showed regression or no modification. Discriminant analysis showed that discrimination accuracy was 79.3 % when considering only the metabolite ratios (predictor, Cho/Cr n ), 86.2 % when considering ratios and ADC (predictors, Cho/Cr n and ADC), 89.7 % when considering ratios and rCBV (predictors, Cho/Cr n , Cho/Cr and rCBV), and 96.6 % when considering ratios, ADC and rCBV (predictors, Cho/Cho n , ADC and rCBV). CONCLUSIONS: The multiparametric 3-T MR assessment based on (1)H-MRSI, DWI and PWI in addition to MRI is a useful tool to discriminate tumour recurrence/progression from radiation effects.

[The cerebral perivascular spaces: review of the literature on diffuse or focal expansion]. / Gli spazi perivascolari encefalici: revisione della letteratura sulle dilatazioni focali o diffuse.

Virchow-Robin spaces (VRS) are pial-lined, interstitial fluid-filled structures that do not directly communicate with the subarachnoid space, accompany penetrating arteries and veins and can be visualized on magnetic resonance imaging. This article reviews the imageology characteristics, the functions, the causes and the relation with neurological disorders of VRS.

[Acustic neurinoma: correlation between clinic and MRI]. / Neurinoma dell'acustico: correlazione tra clinica e RM.

The purpose of this paper is to study acoustic neuroma diagnostic process, describe tumor's molecular basis and its magnetic resonance imaging characterization, which is considered to be the gold standard diagnostic tool to study this disease.

[Chordoma: diagnostic considerations and review of the literature]. / Cordoma: considerazioni diagnostiche e revisione della letteratura.

Chordoma is a rare malignant tumor of the bone; it arises from embryonic remnants of the primitive notochord and occurs along the midline from the skull base to the sacrum. In this article, we reviewed the origin, location, clinical, histopatological and imaging features, treatment, and differential diagnosis of chordoma.

[MR imaging of the Tornwaldt's cyst: retrospective study of 1300 patients]. / Imaging di RM della cisti di Tornwaldt: uno studio retrospettivo di 1300 pazienti.

Tornwaldt's cyst is a benign developmental lesion of the nasopharynx, most of all midline located, originating from an outpouching of the pharyngeal mucosa caused by notocord retraction. Usually, the cyst represents an incidental finding of magnetic resonance study. The purpose of this study is to investigate the differential diagnostic aspects of Tornwaldt's cysts, making a comparison with other diseases of nasopharynx on the basis of morphological characteristics and signal, contributing to the previous statistical works.

[Cerebral pseudovasculitic lesion associated with von Recklinghausen's neurofibromatosis: a case report]. / Lesione pseudovasculitica cerebrale associata a neurofibromatosi di von Recklinghausen.

A child with neurofibromatosis type 1 (NF1) with headache was submitted to magnetic resonanace imaging and a pseudovasculitic lesion was found. Vascular lesions are uncommon in patients with NF1 and our case highlights an even more rare feature of this form of vascular disease.

Trigeminal neuralgia and persistent trigeminal artery.

We report a case of trigeminal neuralgia caused by persistent trigeminal artery (PTA) associated with asymptomatic left temporal cavernoma. Our patient presented unstable blood hypertension and the pain of typical trigeminal neuralgia over the second and third divisions of the nerve in the right side of the face. The attacks were often precipitated during physical exertion. MRI and Angio-MRI revealed the persistent carotid basilar anastomosis and occasionally left parietal cavernoma. After drug treatment of blood hypertension, spontaneous recovery of neuralgia was observed and we planned surgical treatment of left temporal cavernoma.

Infratentorial progressive multifocal leukoencephalopathy in a patient treated with fludarabine and rituximab.

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disease of the central nervous system caused by the JC papovavirus, and is a well known complication in patients with lymphoproliferative diseases (LPDs) during chemotherapy. We report the case of a 59-year-old woman affected by B-cell LPD who underwent three cycles of chemotherapy with fludarabine and rituximab and developed atypical PML six months after the last cycle of chemotherapy. Our patient showed the following peculiarities: chemotherapy regimen was neither heavy nor prolonged; the onset of neurological symptoms was unexpectedly late; the MRI lesion was atypical for non-HIV-related PML, being monofocal and infratentorial with early gadolinium (Gd) enhancement and mass effect; survival was rather prolonged despite the lack of treatment. These data suggest that in patients with LPDs, the occurrence of progressive neurological deficits should induce the suspicion of PML even when clinical onset is late (with respect to chemotherapy) and in the presence of a single infratentorial lesion, with Gd enhancement and mass effect.

Problem in diagnostic radiology.

The case of a 58-year-old woman is described. She presented with what initially seemed to be a transient ischaemic attack. Clinical imaging, however,revealed an intracranial lipoma of the cisterna magna associated with a defect of the occipital bone and spina bifida occulta of the atlas.