Infantile idiopathic intracranial hypertension: case report and review of the literature

Background Idiopathic intracranial hypertension is an infrequent condition of childhood, and is extremely rare in infants, with only 26 cases described. The etiology is still unknown. Typical clinical manifestations change with age, and symptoms are atypical in infants, thus the diagnosis could be late. This is based on increased opening pressure at lumbar puncture, papilloedema and normal cerebral MRI. The measurement of cerebrospinal fluid opening pressure in infants is an issue because many factors may affect it, and data about normal values are scanty. The mainstay of treatment is acetazolamide, which allows to relieve symptoms and to avoid permanent visual loss if promptly administered. Case presentation We report the case of an 8-month-old infant admitted because of vomit, loss of appetite and irritability; later, also bulging anterior fontanel was observed. Cerebral MRI and cerebrospinal fluid analysis resulted negative and after two lumbar punctures he experienced initial symptom relief. Once the diagnosis of idiopathic intracranial hypertension was made, he received oral acetazolamide, and corticosteroids, with progressive symptom resolution. Conclusions Infantile idiopathic intracranial hypertension is extremely rare, and not well described yet. Bulging anterior fontanel in otherwise healthy infants with normal neuroimaging should be always considered suggestive, but can be a late sign, while irritability and anorexia, especially if associated with vomiting, may represent an early sign. In such cases, lumbar puncture should be always done, hopefully with cerebrospinal fluid opening pressure measurement, which is among coded diagnostic criteria, but whose threshold is controversial in infants. Early diagnosis, timely treatment and strict follow-up help to prevent vision loss or death of affected infants.

Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants

PurposeCowden syndrome (CS) is an autosomal dominant disease related to germline PTEN variants and is characterised by multiple hamartomas, increased risk of cancers and frequent brain alteration. Since the behaviour of patients with CS sometimes appears to be inappropriate, we analysed their neuropsychological functioning.MethodsThis monocentric study was conducted between July 2018 and February 2020. A standardised neuropsychological assessment, including an evaluation of social cognition, executive functions, language and dexterity, as well as a cerebral MRI were systematically proposed to all patients with CS. Moreover, PTEN variants were identified.ResultsFifteen patients from 13 families were included, with six non-sense (40%), three missense (20%), five frameshift (33.3%) and one splice site (6.6%) variant types. Twelve patients (80%) had altered social cognition: 10 patients had an abnormal modified Faux-Pas score and 5 had Ekman’s facial emotions recognition impairment. Nearly all patients (93%) had impaired dexterity. Cerebral MRI showed various cerebellar anomalies in seven patients (46.7%).ConclusionAltered social cognition and impaired fine dexterity are frequently associated with CS. Further studies are needed to confirm these results and to determine whether dexterity impairment is due to the effect of germline PTEN variants in the cerebellum.

Serum S100A8/A9 Concentrations are Associated with Neuropsychiatric Involvement and Fatigue in Systemic Lupus Erythematosus: A Cross-Sectional Study

Background Neuropsychiatric (NP) involvement and fatigue are major problems in systemic lupus erythematosus (SLE). S100A8/A9 is a marker of inflammation and responds to therapy in SLE patients. S100A8/A9 has an immunopathogenic role in various neurological diseases. We investigated S100A8/A9 in relation to NP-involvement and fatigue in SLE. Methods 72 consecutive SLE outpatients at a tertiary centre and 26 healthy controls were included in this cross-sectional study. NPSLE was determined by specialists in rheumatology and neurology and defined according to three attribution models: “ACR”, “SLICC A” and “SLICC B”. Cerebral MRI was assessed by a neuroradiologist and neurocognitive testing by a neuropsychologist. The individuals were assessed by scores of pain (VAS), fatigue (VAS and FSS), depression (MADRS-S), and health-related life quality (EQ5D). Concentrations of S100A8/A9 in serum and cerebrospinal fluid were measured with ELISA. Statistical calculations were performed using non-parametric methods. Results Serum concentrations of S100A8/A9 were higher in NPSLE patients compared with non-NPSLE patients when applying the ACR and SLICC A models, but not significant when applying the SLICC B model (medians 1400 ng/ml; 920 ng/ml, p=0.011; 1560 ng/ml; 1090 ng/ml, p=0.050; 1460 ng/ml; 1090 ng/ml, p=0.083, respectively). The concentrations were higher in SLE patients compared with controls (medians 1230 ng/ml; 790 ng/ml, p=0.023). No differences of CSF S100A8/A9 concentrations were observed between NPSLE and non-NPSLE patients. SLE patients with depression or cognitive dysfunction as an ACR NPSLE manifestation had higher serum S100A8/A9 concentrations than non-NPSLE patients (median 1460 ng/ml, p=0.007 and 1380 ng/ml, p=0.013, respectively). Higher serum S100A8/A9 correlated with higher VAS fatigue (r=0.31; p=0.008), VAS pain (r=0.27, p=0.021), and lower EQ5D (r=-0.29, p=0.014) in SLE patients. NPSLE was associated with higher plasma CRP concentrations, higher scores of fatigue and pain, lower EQ5D, and fewer weekly work hours. Serum S100A8/A9 was not independently associated with NPSLE when adjusting for plasma CRP, and scores of fatigue (FSS) and pain (VAS), (OR 1.70, 95% CI 0.82-3.53, p=0.15). Conclusions Serum S100A8/A9 concentrations may be associated with NPSLE and fatigue. S100A8/A9 may be of interest in evaluating NPSLE, although further investigations are needed.

Comparison of cerebral blood flow in subjects with and without chronic obstructive pulmonary disease from the population-based Rotterdam Study

ObjectivesPatients with chronic obstructive pulmonary disease (COPD) are at increased risk of cerebrovascular disease, which might be associated with decreases in cerebral blood flow. Since studies examining cerebral blood flow in COPD remain scarce and are limited by sample size, we aimed to study cerebral blood flow in participants with and without COPD.DesignObservational cohort study.SettingPopulation-based Rotterdam Study.Participants4177 participants (age 68.0±8.5 years; 53% females) with and without COPD.Predictor variableSpirometry and pulmonary diffusing capacity.Outcome measuresCerebral blood flow by two-dimensional phase-contrast cerebral MRI.ResultsCompared with subjects with normal spirometry (forced expiratory volume in 1 s (FEV1)/forced vital capacity (FVC) ≥0.7 and FEV1 ≥80%), multivariable adjusted cerebral blood flow (mL/min) was preserved in subjects with COPD Global initiative for Chronic Obstructive Lung Disease (GOLD1) (FEV1/FVC <0.7 and FEV1 ≥80%), but significantly lower in subjects with COPD GOLD2-3 (FEV1/FVC <0.7 and FEV1 <80%), even after adjustment for cardiovascular comorbidities. In sex-stratified analyses, this difference in cerebral blood flow was statistically significant in women but not in men. Cerebral blood flow was lowest in subjects with FEV1, FVC and diffusion lung capacity for carbon monoxide % predicted values in the lowest quintile, even after adjustment for cardiovascular comorbidities and cardiac function.ConclusionWe observed a lowered cerebral blood flow in subjects with COPD GOLD2-3.

MET-3 A Case of Intrapituitary Adenoma Metastasis from Advanced gastric cancer

Metastasis from extracranial tumor into a pituitary adenoma is a rare case. We report a case of metastasis from gastric cancer to a giant pituitary tumor. A 65-year-old man had been drinking more water and had an increased frequency of urine in 10 years. From that time, the patient was gradually aware of the pain in his left eye. In 20XX the patient had a sudden severe headache and pain of his eyes and visited an ophthalmologist. The patient was referred to our institution with general malaise and nausea, vomiting. A cerebral MRI disclosed Extensive neoplastic lesions from the base of the skull to the nasal cavity. The left eye had esotropia and abduction disorder. Laboratory test demonstrated hyponatremia (Na 126mEq/L) and decreased in plasma osmolality (273mOsm/kg), D-dimer, fibrinogen and CA19-9 were high level. One week after admission, the patient’s symptom was getting worse. The patient underwent FDG PET/CT, which showed FDG avid in the gastric wall and clivus tumor. The lesion was suspected gastric cancer and performed Esophagogastroduodenoscopy. The biopsy-based pathology was showed cubic and round cells with high NC ratio and signet-ring cells containing mucin. And clivus tumor was biopsied at an otolaryngologist because part of the tumor was exposed from the nasal cavity. The biopsy-based pathology was showed a small amount of adenocarcinoma cells which is surrounded by pituitary adenoma. The patient was diagnosed as intrapituitary adenoma metastasis from advanced gastric cancer and has been started radiation therapy. But the level of consciousness dropped sharply, so radiation therapy had become difficult to continue. The patient transferred to palliative care ward and died 3 months after his first visit. In this case, diagnosis and treatment were difficult due to the that the image was a finding a malignant tumor and the rapid progression of symptoms.

Contribution of advanced MRI to the diagnosis of giant tumefactive perivascular spaces

Background Giant tumefactive perivascular spaces (PVSs) are uncommon benign cystic lesions. They can imitate cystic neoplasms. Purpose To evaluate the contribution of advanced neuro magnetic resonance imaging (MRI) techniques in the diagnosis of giant tumefactive PVSs and to further characterize these unusual cerebral lesions. Material and Methods The MRI scans of patients with tumefactive PVS diagnosed between 2010 and 2019 were retrospectively reviewed. All imaging studies included three plane conventional cerebral MRI sequences as well as precontrast 3D T1 MPRAGE, post-gadolinium 3D T1 acquisitions, sagittal plane 3D T2 SPACE, diffusion-weighted imaging, and time-of-flight (TOF) angiography. Some patients received perfusion MR, MR spectroscopy, diffusion tensor imaging (DTI), and contrast-enhanced TOF MR angiography. Results A perforating vessel was demonstrated in 16 patients (66.7%) by TOF imaging. In four patients, there were intracystic vascular collaterals on contrast-enhanced TOF MR angiography. Septal blooming was observed in four patients in susceptibility-weighted imaging. On perfusion MR, central hyperperfusion was observed in four patients, and peripheral hyperperfusion was observed in one patient. On MR spectroscopy, choline increase was observed in two patients, and there was a lactate peak in three patients, and both a choline increase and lactate peak in one patient. On DTI, there was fiber distortion in five patients and fiber deformation in one patient. Conclusion Advanced MRI techniques and 3D volumetric high-resolution MRI sequences can provide a valuable contribution to the diagnosis and can be successfully used in the management of these lesions.

Evaluation of an Ultra-Short MRI Protocol for Cerebral Staging Examinations in Melanoma Patients

Purpose Due to its high sensitivity and lack of radiation, MRI is often used to stage cerebral tumors in patients. In contrast, the relatively long examination times and the limited availability of MRI slots at the clinic might delay these examinations. The aim of this study was to compare an ultra-short MRI protocol with the routinely used standard protocol. Materials and Methods Cerebral MRI of 147 patients with malignant melanoma were evaluated retrospectively, whereby only two sequences (FLAIR images and contrast-enhanced T1 MPR images) were evaluated in one group and images from the whole examination were available for the second group, including five sequences (DWI, T2 TSE, FLAIR, native and contrast-enhanced T1 TSE, and contrast-enhanced T1 MPR). The results of the two groups were compared and tested to determine whether the ultra-short approach was inferior to the full examination. Results 13.6 % of the patients had cerebral metastases. Overall, 73 metastases were detected: 60 were located supratentorially and 13 infratentorially. Concerning the detection of cerebral metastases, the ultra-short MRI examination, involving only a FLAIR and a contrast-enhanced T1 MPR sequence, was not inferior to the full MRI protocol in general (p = 0.017) and separated by location for supratentorial (p = 0.026) and infratentorial (p = 0.001) metastases. Conclusion For staging purposes, a focused, ultra-short MRI protocol is not inferior to a standard MRI examination. This might open up opportunities for faster staging processes and a more efficient use of the often-restricted MRI capacities. Key Points Citation Format

Semantic Segmentation of Hippocampal Subregions With U-Net Architecture

The Automatic semantic segmentation of the hippocampus is an important area of research in which several convolutional neural networks (CNN) models have been used to detect the hippocampus from whole cerebral MRI. In this paper we present two convolutional neural networks the first network ( Hippocampus Segmentation Single Entity HSSE) segmented the hippocampus as a single entity and the second used to detect the hippocampal sub-regions ( Hippocampus Segmentation Multi Class HSMC), these two networks inspire their architecture of the U-net model. Two cohorts were used as training data from (NITRC) (NeuroImaging Tools & Resources Collaboratory (NITRC)) annotated by ITK-SNAP software. We analyze this networks alongside other recent methods that do hippocampal segmentation, the results obtained are encouraging and reach dice scores greater than 0.84