Resting-state fMRI functional connectome of C9orf72 mutation status.

OBJECTIVE: The resting-state functional connectome has not been extensively investigated in amyotrophic lateral sclerosis (ALS) spectrum disease, in particular in relationship with patients' genetic status. METHODS: Here we studied the network-to-network connectivity of 19 ALS patients carrying the C9orf72 hexanucleotide repeat expansion (C9orf72+), 19 ALS patients not affected by C9orf72 mutation (C9orf72-), and 19 ALS-mimic patients (ALSm) well-matched for demographic and clinical variables. RESULTS: When compared with ALSm, we observed greater connectivity of the default mode and frontoparietal networks with the visual network for C9orf72+ patients (P = 0.001). Moreover, the whole-connectome showed greater node degree (P < 0.001), while sensorimotor cortices resulted isolated in C9orf72+. INTERPRETATION: Our results suggest a crucial involvement of extra-motor functions in ALS spectrum disease. In particular, alterations of the visual cortex may have a pathogenic role in C9orf72-related ALS. The prominent feature of these patients would be increased visual system connectivity with the networks responsible of the functional balance between internal and external attention.

Association of MRI leptomeningeal enhancement with disability worsening in progressive multiple sclerosis: A clinical and post-mortem study.

BACKGROUND: Leptomeningeal enhancement (LME) has been described as a biomarker of meningeal inflammation in multiple sclerosis (MS). OBJECTIVE: The aim of this study was to (1) assess if LME is predictive of disability worsening in progressive MS (pMS) patients and (2) investigate the pathological substrates of LME in an independent post-mortem MS series. METHODS: In total, 115 pMS patients were imaged yearly with 1.5T MRI, using post-contrast CUBE 3D FLAIR for LME detection. Endpoint: to identify the baseline variables predictive of confirmed disability worsening (CDW) at 24 months follow-up. Post-mortem, inflammation, and structural changes of the leptomeninges were assessed in 12 MS/8 control brains. RESULTS: LME (27% of patients at baseline) was associated with higher EDSS and lower brain volume (nBV). LME was unchanged in most patients over follow-up. LME at baseline MRI was independently associated with higher risk of 24 months CDW (HR 3.05, 95% CI 1.36-6.84, p = 0.007) in a Cox regression, including age, nBV, T2 lesion volume, high-efficacy treatments, and MRI disease activity. Post-mortem, focal structural changes (fibrosis) of the leptomeninges were observed in MS, usually associated with inflammation (Kendall's Tau 0.315, p < 0.0001). CONCLUSIONS: LME is frequently detected in pMS patients using 1.5T MRI and is independently predictive of disability progression. LME could result from both focal leptomeningeal post-inflammatory fibrosis and inflammation.

Clinical outcomes, MRI evaluation and predictive factors of indirect decompression with lateral transpsoas approach for lumbar interbody fusion: a multicenter experience.

Introduction: Evaluating the effects of indirect decompression obtained through lateral lumbar interbody fusion (LLIF) by clinical improvements and radiological parameters on MRI scans. Identifying predictors of better decompression and clinical outcome. Materials and methods: From 2016 to 2019, patients who underwent single- or double-level indirect decompression LLIF were consecutively reviewed. Radiological signs of indirect decompression were evaluated in preoperative and follow-up MRI studies and were subsequently correlated to clinical data, expressed as axial/radicular pain (VAS back/leg), index of disability (Oswestry Disability Index) and clinical severity of lumbar stenosis (Swiss Spinal Stenosis Questionnaire). Results: 72 patients were enrolled. The mean follow-up was 24 months. Differences in vertebral canal area (p < 0.001), height of the foramina (p < 0.001), thickness of the yellow ligament (p = 0.001) and anterior height of the interbody space (p = 0.02) were observed. Older age (p = 0.042), presence of spondylolisthesis (p = 0.042), presence of intra-articular facet effusion (p = 0.003) and posterior height of the implanted cage (p = 0.020) positively affected the increase of the canal area. Change in root canal area (p < 0.001), height of the implanted cage (p = 0.020) and younger age (p = 0.035) were predictive factors of root pain relief, while increased vertebral canal area (p = 0.020) and height of the interbody fusion cage (p = 0.023) positively affected the severity of clinical stenosis. Conclusions: LLIF indirect decompression showed both clinical and radiological improvements. Presence and degree of spondylolisthesis, presence of intra-articular facet effusion, age of the patient and height of the cage were predictive factors of major clinical improvements.

Bilateral idiopathic optic nerve sheath meningocele: A case report and literature review.

Optic nerve (ON) sheath meningocele is an enlargement of the ON sheath, consisting in a cerebrospinal fluid collection along the perineural space of the optic nerve. It should be considered primary when it is not associated with orbital-cerebral neoplasm or with cranio-orbital junction malformations. Here, we report a case of bilateral primary idiopathic ON meningocele with gradual vision loss, treated with acetazolamide, which showed a maintained visual recovery and partial improvement during a 6-month follow-up period. The literature review retrieved eight cases of primary idiopathic ON sheath meningocele: ON sheath fenestration is considered in patients with progressive and severe vision loss, otherwise, acetazolamide treatment is indicated with good results on symptoms control, as confirmed in our case report.

Transient blindness associated with mild encephalitis/encephalopathy with a reversible splenial lesion (MERS): a case report and review of literature.

BACKGROUND: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinical-radiological syndrome that can be related to infectious and non-infectious conditions. The most prominent neurological symptoms are disturbance of consciousness, abnormal speech, delirious behavior, seizures, muscle weakness, ophthalmoplegia, facial nerve paralysis and headache. Here we report the case of a child with MERS presenting with the unusual symptom of bilateral transient blindness. CASE PRESENTATION: A 4-year-old female patient, with a history of fever, abdominal pain, loss of appetite and cough lasted for a few days, experienced 3 episodes of transient bilateral loss of vision with difficulty in walking. Her physical examination showed absence of focal neurological and meningeal irritation signs, although responsiveness was slightly impaired. The ophthalmologic evaluation, including a fundus oculi examination, was negative. The electroencephalogram showed slow activity in the temporo-occipital regions, more evident in the right hemisphere. A lumbar puncture was performed and cerebrospinal fluid analysis revealed normal glycorrhachia, cell counts, protein levels and IgG index. Magnetic resonance imaging of the brain showed a signal alteration in the splenium of the corpus callosum, without contrast enhancement. This finding was suggestive of a reversible cytotoxic lesion. Empiric antiviral treatment with acyclovir and intravenous dexamethasone was initiated. Polymerase chain reaction search for neurotropic viral nucleic acid sequences in the cerebrospinal fluid was negative, while a low number of HHV-6 DNA copies was detected in the blood. Electroencephalograms were repeated in the following days, showing a progressive normalization of the pattern. The child was discharged without symptoms after 10 days of treatment with oral corticosteroids. After 40 days, brain magnetic resonance imaging showed a complete normalization of the signal alteration in the splenium of the corpus callosum. CONCLUSION: Transient blindness was reported as an initial symptom of MERS in a few children. To date, there is no evidence of effective treatment methods. Nonetheless, MERS diagnosis provides pediatricians with valuable prognostic information in order to reassure patients and their families about the good outcome of this disease.

MRI and 18F-FDG-PET/CT in a rare case of early (precursor) B-lymphoblastic leukaemia with bone involvement as initial manifestation.

A 4-year old girl presenting gait difficulty was referred for spine X-ray and Magnetic Resonance Imaging (MRI). MRI showed several diffuse hypointense signals in sacral and lumbar vertebrae. In order to exclude a possible lymphoproliferative disease a 18-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG-PET/CT) was requested. The PET/CT scan confirmed the MRI findings and demonstrated additional findings in the sternum. Therefore, a bone marrow biopsy was performed and a diagnosis of acute lymphoblastic leukaemia - early B type was made.

Different aquaporin-4 expression in glioblastoma multiforme patients with and without seizures.

Aquaporin-4 (AQP-4), the most important water channel in the brain, is expressed by astrocyte end feet abutting microvessels. Altered expression levels of AQP-4 and redistribution of the protein throughout the membranes of cells found in glioblastoma multiforme (GBM) lead to development of the edema often found surrounding the tumor mass. Dysregulation of AQP-4 also occurs in hippocampal sclerosis and cortical dysplasia in patients with refractory partial epilepsy. This work reports on analysis of the relationship between AQP-4 expression and the incidence of epileptic seizures in patients with GBM. Immunohistochemical and polymerase chain reaction techniques were used to evaluate AQP-4 in biopsy specimens from 19 patients with GBM, 10 of who had a history of seizures before surgery. AQP-4 mRNA levels were identical in the two groups of patients, but AQP-4 expression was more frequently detected on the GBM membranes from specimens of patients with seizures than from individuals without (10 versus 2, P < 0.001). We conclude that reduced expression of cell surface AQP-4 is characteristic of GBM patients without seizures, likely attributable to a posttranslational mechanism.

Expansive Masses Arising From The Clivus: The Role Of FDG-PET/CT In The Metabolic Assessment Of Skeletal Lesions.

A patient with neurological symptoms underwent CT scan that showed a sellar and suprasellar mass with bone erosions, involving especially the clivus and the right petrous apex. The first diagnostic hypothesis was chordoma in relation to the mass position. The MRI showed a solid well-enhancing mass; moreover another circumscribed lesion, with similar signal pattern, was found in the left mandibular condyle. the signal and the presence of another lesion did not agree with diagnosis of chordoma. FDG-PET/CT study showed multiple pathological uptakes suggesting a metastatic disease. A trans-sphenoidal excisional biopsy was performed and the histopathological analysis showed a population of cells consistent with a plasmacell tumor, confirmed by the presence of a monoclonal gammopathy on blood analysis. Our case suggests that FDG-PET/CT can modify the diagnostic and therapeutic procedures in myeloma, by evaluating the bone marrow involvement.