Maple syrup urine disease (MSUD) is an inborn error of branched-chain amino acid metabolism, which usually presents in childhood with encephalopathy due to cerebral edema and dysmyelination. Even with treatment, metabolic stressors may precipitate later episodes of acute decompensation. Changes related to cerebral and white matter edema have been described by magnetic resonance imaging (MRI), and imaging can aid in both initial diagnosis and evaluation of decompensation. To date, there are no published known reports of cancer in patients with MSUD. Here, we present the first case report of an anaplastic astrocytoma in a teenager with MSUD, with a discussion of imaging findings and the use of magnetic resonance spectroscopy (MRS) to help distinguish between tumor and metabolic changes.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00381-015-2756-9 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.
Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFUnderstanding retinal tau pathology through functional 2D and 3D iPSC-derived in vitro retinal models.
Acta Neuropathol Commun
January 2025
Department of Physiology and Pharmacology, Sapienza University of Rome, 00185, Rome, Italy.
The generation of retinal models from human induced pluripotent stem cells holds significant potential for advancing our understanding of retinal development, neurodegeneration, and the in vitro modeling of neurodegenerative disorders. The retina, as an accessible part of the central nervous system, offers a unique window into these processes, making it invaluable for both study and early diagnosis. This study investigates the impact of the Frontotemporal Dementia-linked IVS 10 + 16 MAPT mutation on retinal development and function using 2D and 3D retinal models derived from human induced pluripotent stem cells.
View Article and Find Full Text PDFPredictive factors of fibrotic interstitial lung abnormality on high-resolution computed tomography scans: a prospective observational study.
BMC Pulm Med
January 2025
Department of Respiratory Medicine, Faculty of Life Sciences, Kumamoto University, Kumamoto 1-1-1 Honjo, Chuo-ku, 860-8556, Japan.
Background: Fibrotic types of interstitial lung abnormalities seen on high-resolution computed tomography scans, characterised by traction bronchiolectasis/bronchiectasis with or without honeycombing, are predictors of progression and poor prognostic factors of interstitial lung abnormalities. There are no reports on the clinical characteristics of fibrotic interstitial lung abnormalities on high-resolution computed tomography scans. Therefore, we aimed to examine these clinical characteristics and clarify the predictive factors of fibrotic interstitial lung abnormalities on high-resolution computed tomography scans.
View Article and Find Full Text PDFEnhancing furcation involvement classification on panoramic radiographs with vision transformers.
BMC Oral Health
January 2025
Department of Periodontics, Affiliated Hospital of Medical School, Nanjing Stomatological Hospital, Research Institute of Stomatology, Nanjing University, Nanjing, China.
Background: The severity of furcation involvement (FI) directly affected tooth prognosis and influenced treatment approaches. However, assessing, diagnosing, and treating molars with FI was complicated by anatomical and morphological variations. Cone-beam computed tomography (CBCT) enhanced diagnostic accuracy for detecting FI and measuring furcation defects.
View Article and Find Full Text PDFCT-sensitized nanoprobe for effective early diagnosis and treatment of pulmonary fibrosis.
J Nanobiotechnology
January 2025
Nurturing Center of Jiangsu Province for State Laboratory of AI Imaging & Interventional Radiology; Basic Medicine Research and Innovation Center of Ministry of Education, Medical School of Southeast University, 87 Dingjiaqiao, Nanjing, 210009, China.
Early diagnosis is critical for providing a timely window for effective therapy in pulmonary fibrosis (PF); however, achieving this remains a significant challenge. The distinct honeycombing patterns observed in computed tomography (CT) for the primary diagnosis of PF are typically only visible in patients with moderate to severe disease, often leading to missed opportunities for early intervention. In this study, we developed a nanoprobe designed to accumulate at fibroblastic foci and loaded with the CT sensitizer iodide to enable effective early diagnosis of PF.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!