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'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.
BMJ Case Rep
January 2025
Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Paired box 2 ()-related disorder, also known as renal coloboma syndrome, is a variably penetrant autosomal dominant condition, associated with renal and ophthalmological abnormalities. We report a child with -related disorder who presented atypically with acute ataxia on a background of stage 3 chronic kidney disease. Extensive biochemical, radiological and gene agnostic rapid trio exome sequencing was non-diagnostic.
View Article and Find Full Text PDFAcute Vestibular Syndrome Unmasking an -Spectrum Disorder.
Neurol Genet
February 2025
Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.
Objectives: Since the discovery of biallelic pentanucleotide expansions in as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome, a wide and growing clinical spectrum has emerged. In this article, we report a man with acute vestibular syndrome that likely unmasked a -spectrum disorder.
Methods: Detailed clinical evaluation, neuroimaging, nerve conduction studies, evaluation of vestibular function, and short-read whole-genome sequencing and targeted long-read adaptive sequencing were performed.
Immunotherapy Responsive Recurrent Post-Infectious Ataxia Associated With Recurrent Gene Variant.
Neurol Genet
February 2025
Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, CA; and.
Objectives: We detail a case of recurrent, postinfectious, cerebellar ataxia associated with a likely pathogenic previously documented gene variant in .
Methods: The patient was identified after her second hospitalization for postinfectious cerebellar ataxia. Genetic testing was performed after discharge.
Hyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay.
Radiol Bras
January 2025
Faculdade de Ciências Médicas da Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brazil.
The middle cerebellar peduncle (MCP) is the largest afferent system of the cerebellum and consists of fibres from the cortico-ponto-cerebellar tract. Specifically, several relevant diseases can present with hyperintensity in the MCP on T2-weighted/fluid-attenuated inversion recovery (T2/FLAIR) magnetic resonance imaging sequences, including multiple sclerosis; acute disseminated encephalomyelitis; neuromyelitis optica spectrum disorder; progressive multifocal leucoencephalopathy; hepatic encephalopathy; osmotic demyelination syndrome; multiple system atrophy; fragile X-associated tremor/ataxia syndrome; megalencephalic leucoencephalopathy with subcortical cysts; spinocerebellar ataxias; hemi-pontine infarct with trans-axonal degeneration; and diffuse midline glioma with the histone H3K27M mutation. The aim of this pictorial review is to discuss the imaging findings that are relevant for the differential diagnosis of diseases presenting with MCP hyperintensity on T2/FLAIR sequences.
View Article and Find Full Text PDFWernicke encephalopathy with active hallucinations during lung cancer treatment and hemodialysis: A case report.
Palliat Support Care
January 2025
Department of Psycho-Oncology, Saitama Medical University International Medical Center, Saitama, Japan.
Objectives: Wernicke encephalopathy (WE) is an acute neuropsychiatric disorder caused by thiamine deficiency. The classical triad of symptoms for WE include mental status changes, ataxia, and ophthalmoplegia. In contrast, more uncommon symptoms include hallucinations.
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