Search

Autism Spectrum Disorder (ASD) is defined as a neurodevelopmental disorder largely investigated in the neurologic field. Recently, neuroimaging studies have been conducted in order to investigate cerebral morphologic alterations in ASD patients, demonstrating an atypical brain development before the clinical manifestations of the disorder. Cortical Thickness (CT) and Local Gyrification Index (LGI) distribution for ASD children were investigated in this study, with the aim to evaluate possible relationship between brain measures and individual characteristics (i.e., IQ and verbal ability). 3D T1-w sequences from 129 ASD and 58 age-matched Healthy Controls (HC) were acquired and processed in order to assess CT and LGI for each subject. Intergroup differences between ASD and HC were investigated, including analyses of 2 ASD subgroups, split according to patient verbal ability and IQ. When compared to HC, ASD showed increased CT and LGI within several brain areas, both as an overall group and as verbal ability an IQ subgroups. Moreover, when comparing language characteristics of the ASD subjects, those patients with verbal ability exhibit significant CT and LGI increase was found within the occipital lobe of right hemisphere. No significant results occurred when comparing ASD patients according to their IQ value. These results support the hypothesis of abnormal brain maturation in ASD since early childhood with differences among clinical subgroups suggesting different anatomical substrates underlying an aberrant connectivity., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Napolitano, Guerrera, Lucignani, Parrillo, Baldassari, Bottino, Moltoni, Espagnet, Talamanca, Valeri and Vicari.)

De novo arterio-venous malformations (AVMs) of the brain have been rarely previously reported, especially in the pediatric population. Although AVMs have possible connections with other diseases, the association with congenital portosystemic shunt (CPSS) has never been reported before. A child was followed for CPSS and cutaneous and hepatic angiomas. Brain MRI and angiography revealed an AVM within the left temporal region that was not present at a previous MRI. The patient underwent successful resection of the AVM. This case adds new evidence on the complex variety of diseases associated with multisystemic vascular malformations corroborating the hypothesis of a multifactorial origin of de novo cerebral AVMs, under a possible common genetic substrate., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Neurite Orientation Dispersion and Density Imaging (NODDI) and Bingham-NODDI diffusion MRI models are nowadays very well-known models in the field of diffusion MRI as they represent powerful tools for the estimation of brain microstructure. In order to efficiently translate NODDI imaging findings into the diagnostic clinical practice, a test-retest approach would be useful to assess reproducibility and reliability of NODDI biomarkers, thus providing validation on precision of different fitting toolboxes. In this context, we conducted a test-retest study with the aim to assess the effects of different factors (i.e. fitting algorithms, multiband acceleration, shell configuration, age of subject and hemispheric side) on diffusion models reliability, assessed in terms of Intra-class Correlation Coefficient (ICC) and Variation Factor (VF). To this purpose, data from pediatric and adult subjects were acquired with Simultaneous-MultiSlice (SMS) imaging method with two different acceleration factor (AF) and four b-values, subsequently combined in seven shell configurations. Data were then fitted with two different GPU-based algorithms to speed up the analysis. Results show that each factor investigated had a significant effect on reliability of several diffusion parameters. Particularly, both datasets reveal very good ICC values for higher AF, suggesting that faster acquisitions do not jeopardize the reliability and are useful to decrease motion artifacts. Although very small reliability differences appear when comparing shell configurations, more extensive diffusion parameters variability results when considering shell configuration with lower b-values, especially for simple model like NODDI. Also fitting tools have a significant effect on reliability, but their difference occurs in both datasets and AF, so it appears to be independent from either misalignment and motion artifacts, or noise and SNR. The main achievement of the present study is to show how 10 min multi-shell diffusion MRI acquisition for NODDI acquisition can have reliable results in WM. More complex models do not appear to be more prone to less data acquisition as well as noisier data thus stressing the idea of Bingham-NODDI having greater sensitivity to true subject variability., Competing Interests: Declarations of Competing Interest None, (Copyright © 2021. Published by Elsevier Inc.)

Background: Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is the most common genetic disorder of fatty acid oxidation, which presents before the age of 2 with the onset of acute hypoketotic hypoglycemia, and is typically precipitated by stress., Case Presentation: We report serial brain magnetic resonance imaging (MRI) changes, including MR spectroscopy (MRS) and diffusion weighted imaging (DWI), in a patient with a classical MCAD presentation, compared with five healthy controls., Conclusions: Through this unique case we analyze the evolution of radiological findings during the first month of illness and we highlight the pivotal role of MRI, especially DWI, in the early diagnosis of the decompensated state of the disease.

Mutations of TUBA1A gene were first identified as causing a distinctive neuroradiologic phenotype characterized by cortical abnormalities ranging from classical lissencephaly to perisylvian pachygyria with dysgenetic corpus callosum, brainstem and cerebellum. We describe the clinical and neuroradiological features of a 3 years old girl carrying a novel missense TUBA1A mutation associated with asymmetrical polymicrogyria and provide structural data about the mutation. Our case confirm that the spectrum of tubulin-related cortical phenotypes is wide and that the screening of these genes should be implemented in patients with mid-hindbrain dysgenesis, partial of complete corpus callosum agenesis and varying degrees of cortical abnormalities., (Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Hemimegalencephaly (HME) is a rare congenital malformation of the brain, grossly characterized by enlargement and overdevelopment of one cerebral hemisphere. We describe a 16-month-old patient with facial asymmetry caused by congenital infiltrating lipomatosis of the face (CILF) associated with ipsilateral HME. Although HME has been described as part of different syndromic diseases, the association of HME with CILF has been rarely reported. Our case and literature review suggest that when the diagnosis of CILF is suspected or established, the possible presence of associated HME has to be considered and a magnetic resonance imaging (MRI) must be performed even in absence of neurological features, not always present in early stages. MRI also demonstrates the involvement of intracranial structures outside the affected cerebral hemisphere, such as brain stem, cerebellum, cranial nerves, and blood vessels. In our patient, computed tomography of the brain provided detailed information on osseous hypertrophy and skull-base foramina enlargement., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)

Thromboembolic disease is a well-recognized but very uncommon complication of inflammatory bowel disease. The mechanisms of the increased risk of thrombosis are not well understood: although several coagulation abnormalities have been described in inflammatory bowel disease patients, it is not clear whether they actually contribute to hypercoagulation or whether they are nonspecific markers of inflammation. Antiphospholipid antibodies (anticardiolipin antibodies and/or lupus anticoagulant) have recently been associated with an increased risk of thrombosis, particularly cerebrovascular disease in young patients. We report the case of a 33-yr-old female with severe ulcerative colitis at first attack who developed thrombosis of the superior and inferior longitudinal dural sinuses. No risk factors for thrombosis or coagulation abnormalities were observed; however, lupus anticoagulant was detected in the serum. The patient was successfully treated with osmotic agents, prophylactic anticonvulsant, and antiplatelet therapy, combined with i.v. steroids. After 6 months, the colitis is in remission, and the neurological recovery is good even if not yet complete.