Lupus Anticoagulants (LA) pathology is a disease frequently associated with venous and/or arterial thrombosis. The authors describe a 6 year-old boy complaining cephalea and emesis, followed by lethargy, in whom antiphospholipids antibodies were detected. Brain magnetic resonance scans showed lesions of the cerebellum. The characteristics of LA disease are discussed.
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AJNR Am J Neuroradiol
January 2025
Department of Pediatric Radiology and Neuroradiology (C.D., F.A., C.P., A.R.), Children's Hospital V. Buzzi, Milan, Italy.
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by an infantile-onset disorder, frequently arising from heterozygous mutations in the gene. Individuals with GLUT1-DS may present with early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined by unilateral paresis affecting 1 side of the body and/or one-half of the face, occasionally accompanied by speech impairment.
View Article and Find Full Text PDFBrain Dev
December 2024
Division of Neurology, Saitama Children's Medical Center, 1-2 Chuo-ku Saitama-shi, Saitama 330-8777, Japan.
Purpose: This study aimed to elucidate the distribution of intracranial gamma-aminobutyric acid (GABA) receptors in patients with infantile epileptic spasms syndrome (IESS) of normal brain MRI findings using I-iomazenil single-photon emission computed tomography (IMZ-SPECT).
Methods: This retrospective study compared IMZ-SPECT images from 20 patients with IESS of unknown etiology with normal brain MRI (unknown IESS group) and 23 patients with developmentally normal epilepsy of the same age (developmentally normal group). A three-dimensional stereotactic region of interest (ROI) template was used to divide the brain into 24 segments (left and right callosomarginal, precentral, central, parietal, angular, temporal, posterior cerebral, pericallosal, lenticular nucleus, thalamus, hippocampus, and cerebellum), and the mean accumulation of I-iomazenil in each ROI was calculated.
Brain
December 2024
Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.
View Article and Find Full Text PDFClin Toxicol (Phila)
December 2024
Department of Neuroradiology, Unidade Local de Saúde de Santa Maria, Lisboa, Portugal.
Introduction: Vigabatrin, an anticonvulsant drug used for refractory epilepsy and as first-line treatment for infantile epileptic spasms syndrome, can rarely cause brain abnormalities detectable on magnetic resonance imaging. These complications, potentially related to dose, young age, and concomitant high doses of adrenocorticotropic hormone and/or prednisolone, can lead to neurological symptoms. Upon withdrawal or dose reduction, symptoms and imaging changes tend to resolve.
View Article and Find Full Text PDFBrain Behav Immun
December 2024
Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA, USA. Electronic address:
Background: Niemann-Pick Disease Type C (NPC) is an ultra-rare disorder characterized by progressive psychiatric and neurologic manifestations, with late infantile, juvenile, and adolescent/adult presentations. We examined morphological properties of the choroid plexus, a protective blood-cerebrospinal fluid barrier, in NPC, and their relationship with neurodegeneration, clinical status, and circulatory markers. This study also determined whether choroid plexus morphology differentiates between NPC and more prevalent illnesses, schizophrenia (SZ) and bipolar disorder (BD), which have overlapping psychiatric symptoms with adolescent and adult-onset NPC and are associated with misdiagnosis.
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