Complex phenotype in an Italian family with a novel mutation in SPG3A.

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations

Reduced intracranial volume in Fabry Disease: Evidence of abnormal neurodevelopment?

Introduction: Lysosomal storage disorders (LSD) are often characterized by abnormal brain development, reflected by a reduction of intracranial volume (ICV). The aim of our study was to perform a volumetric analysis of intracranial tissues in Fabry Disease (FD), investigating possible reductions of ICV as a potential expression of abnormal brain development in this condition. Materials and Methods: Forty-two FD patients (15males,mean age 43.3±13.0 years) were enrolled along with 38 healthy controls (HC) of comparable age and sex. Volumetric MRI data were segmented using SPM12 to obtain intracranial tissue volumes, from which ICV values were derived. Results: Mean ICV of FD patients was 8.1% smaller compared to the control group (p<5·10−5). Unlike what typically happens in neurodegenerative disorders, no significant differences emerged when comparing between the two groups the fractional volumes of gray matter, white matter and CSF (i.e., normalized by ICV), consistent with a harmonious volumetric reduction of intracranial structures. Discussion: The present results suggest that in FD patients an abnormality of brain development is present, expanding the current knowledge about central nervous system involvement in FD, further emphasizing the importance of an early diagnosis

Obstructive oligospermia : the role of interventional radiology in its diagnosis and treatment

Purpose: According to the latest World Health Organization guidelines (2010), oligo-sperm it is due to a sperm concentration of less than 15 million/ml of seminal fluid. The cause can be obstructive and non-obstructive. Interventional radiology allows diagnosis and, in some cases, minimally invasive treatment. Case presentation: A 28-year-old man with oligospermia (7 million/ml of seminal fluid), surgically treated 2 years ago for clinical grade III bilateral varicocele (according to Dubin’s classification), was admitted to the Urology Department for suspected accidental surgical ligation of the left vas deferens. The patient underwent several diagnostic tests including phlebography of the left pampiniform plexus, bilateral vesico-deferentography. The steno-occlusion of the ejaculatory ducts was diagnosed, which was resolved through an innovative interventional radiology treatment. Conclusions: Interventional radiology has played a decisive role in the diagnosis and treatment of the causes of male infertility. In our experience, it has considerable potential in the minimally invasive treatment of steno-obstructive pathologies of the vesico-deferential system

A Rare Case of Recurrent Hematuria from Right Kidney: Radiologic Diagnosis and Treatment

We report the case of a young woman admitted because of several and recurring episodes of macroscopic hematuria beginned after her first pregnancy. Contrast-enhanced multidetector computed tomography images showed dilated ovarian veins due to a typical pelvic varicocele. We supposed to be a right ovarian vein syndrome, a rare clinical situation characterized by an anomalous compression of the lumbar ureter by the ectasic ovarian vein; this condition may cause a chronic inflammatory stimulus above the urothelial mucosa with a following hematuria. All symptoms were solved by an endovascular treatment through the sclero-embolisation of the pelvic varicocele. After eighteen months the patient didn't present hematuria anymore and she no longer complained about her right side lumbar pain.</jats:p

Diagnostic imaging in the diagnosis of acute complications of bariatric surgery

Purpose: The aim of study is to identify the frequency of acute complications and imaging findings at gastro-intestinal transit (GI) and computerised tomography (CT) in a group of obese patients who developed clinical suspicion of acute complications (painful and meteoric abdomen, nausea, vomiting, fever, intestinal blockage) in post bariatric surgery. Material and methods: We retrospectively review 954 obese patients who underwent bariatric surgery between 2013 and 2019. The study included 72 patients who developed clinical suspicion of acute complications (painful and meteoric abdomen, nausea, vomiting, fever, intestinal blockage) within 6 days of bariatric surgery of sleeve gastrectomy, gastric banding, gastric bypass with Roux loop confirmed by CT, and who underwent a gastrointestinal transit before the CT examination. Results: GI exam allowed visualisation of 58% of complications. Analysing the data for each surgical technique, 46 post-operative complications were found involve gastric banding. The most frequent was bandage migration (26 cases, 56 %), identified in all cases at GI transit and then confirmed on CT. Conclusions: The study suggests that CT should be used to clarify all doubtful or clinically discordant GI transit exam results. The participation of a radiologist in qualification and post-operative evaluation is important for bariatric surgery patients

Structural connectivity in a single case of progressive prosopagnosia: The role of the right inferior longitudinal fasciculus

Progressive prosopagnosia (PP) is a clinical syndrome characterized by a progressive and selective inability to recognize and identify faces of familiar people. Here we report a patient (G.S.) with PP, mainly related to a prominent deficit in recognition of familiar faces, without a semantic (cross-modal) impairment. An in-depth evaluation showed that his deficit extended to other classes of objects, both living and non-living. A follow-up neuropsychological assessment did not reveal substantial changes after about 1 year. Structural MRI showed predominant right temporal lobe atrophy. Diffusion tensor imaging was performed to elucidate structural connectivity of the inferior longitudinal fasciculus (ILF) and the inferior fronto-occipital fasciculus (IFOF), the two major tracts that project through the core fusiform region to the anterior temporal and frontal cortices, respectively. Right ILF was markedly reduced in G.S., while left ILF and IFOFs were apparently preserved. These data are in favour of a crucial role of the neural circuit subserved by right ILF in the pathogenesis of PP

Investigating the Relationship between White Matter Connectivity and Motivational Circuits in Subjects with Deficit Schizophrenia: A Diffusion Tensor Imaging (DTI) Study

Deficit schizophrenia is a subtype of schizophrenia presenting primary and enduring negative symptoms (NS). Although one of the most updated hypotheses indicates a relationship between NS and impaired motivation, only a few studies have investigated abnormalities of motivational circuits in subjects with deficit schizophrenia (DS). Our aim was to investigate structural connectivity within motivational circuits in DS. We analyzed diffusion tensor imaging (DTI) data from 46 subjects with schizophrenia (SCZ) and 35 healthy controls (HCs). SCZ were classified as DS (n = 9) and nondeficit (NDS) (n = 37) using the Schedule for Deficit Syndrome. The connectivity index (CI) and the Fractional Anisotropy (FA) of the connections between selected brain areas involved in motivational circuits were examined. DS, as compared with NDS and HCs, showed increased CI between the right amygdala and dorsal anterior insular cortex and increased FA of the pathway connecting the left nucleus accumbens with the posterior insular cortex. Our results support previous evidence of distinct neurobiological alterations underlying different clinical subtypes of schizophrenia. DS, as compared with NDS and HCs, may present an altered pruning process (consistent with the hyperconnectivity) in cerebral regions involved in updating the stimulus value to guide goal-directed behavior

Clinical correlates of R1 relaxometry and magnetic susceptibility changes in multiple sclerosis: a multi-parameter quantitative MRI study of brain iron and myelin

Objectives: The clinical impact of brain microstructural abnormalities in multiple sclerosis (MS) remains elusive. We aimed to characterize the topography of longitudinal relaxation rate (R1) and quantitative susceptibility (χ) changes, as indices of iron and myelin, together with brain atrophy, and to clarify their contribution to cognitive and motor disability in MS. Methods: In this cross-sectional study, voxel-based morphometry, and voxel-based quantification analyses of R1 and χ maps were conducted in gray matter (GM) and white matter (WM) of 117 MS patients and 53 healthy controls. Voxel-wise between-group differences were assessed with nonparametric permutation tests, while correlations between MRI metrics and clinical variables (global disability, cognitive and motor performance) were assessed both globally and voxel-wise within clusters emerging from the between-group comparisons. Results: MS patients showed widespread R1 decrease associated with more limited modifications of χ, with atrophy mainly involving deep GM, posterior and infratentorial regions (p < 0.02). While R1 and χ showed a parallel reduction in several WM tracts (p < 0.001), reduced GM R1 values (p < 0.001) were associated with decreased thalamic χ (p < 0.001) and small clusters of increased χ in the caudate nucleus and prefrontal cortex (p < 0.02). In addition to the atrophy, χ values in the cingulum and corona radiata correlated with global disability and motor performance, while focal demyelination correlated with cognitive performance (p < 0.04). Conclusions: We confirmed the presence of widespread R1 changes, involving both GM and WM, and atrophy in MS, with less extensive modifications of tissue χ. While atrophy and χ changes are related to global and motor disability, R1 changes are meaningful correlates of cognition. Key points: • Compared to healthy controls, multiple sclerosis patients showed R1 and χ changes suggestive of iron increase within the basal ganglia and reduced iron and myelin content within (subnuclei of) the thalamus. • Thalamic volume and χ changes significantly predicted clinical disability, as well as pulvinar R1 and χ changes, independently from atrophy. • Atrophy-independent R1 and χ changes, suggestive of thalamic iron and myelin depletion, may represent a sensitive marker of subclinical inflammation