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Coats Plus Syndrome in a Premature Infant, With a Focus on Management.
J Vitreoretin Dis
October 2022
Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.
Purpose: A premature infant was diagnosed with Coats plus syndrome based on a genetic evaluation showing biallelic heterozygous pathogenic variants.
Methods: A case study was performed, including findings and interventions.
Results: A premature infant born 30 weeks gestational age weighing 817 g was evaluated for retinopathy of prematurity at 35 weeks corrected gestational age.
A case of early-infantile onset, rapidly progressive leukoencephalopathy with calcifications and cysts caused by biallelic variants.
Radiol Case Rep
March 2023
Division of Child Neurology, Chiba Children's Hospital, 579-1, Heta-cho, Midori-ku, Chiba 266-0007, Japan.
Article Synopsis
- Leukoencephalopathy with calcifications and cysts is a rare genetic disorder that leads to brain issues, including calcifications, white matter disease, and cysts, and its progression varies among patients.
- A case study of a 3-month-old girl highlighted the disorder's rapid progression, marked by seizures and significant brain abnormalities detected through CT and MRI scans, ultimately leading to severe developmental delays by age 4.
- The case underscores that conventional whole-exome sequencing might not identify all variants, suggesting that careful neuroimaging is critical for diagnosis and understanding the disease's clinical features.
Adult-onset leukoencephalopathy, cerebral calcifications, and cysts: An 8-year neuroimaging follow-up of disease progression and histopathological correlation.
J Clin Neurosci
November 2019
Department of Medical Imaging, Taipei Medical University Hospital, Taiwan; Translational Imaging Research Center, College of Medicine, Taipei Medical University, Taiwan.
Leukoencephalopathy, cerebral calcifications, and cysts (LCC) is an extremely rare neurological disease, also known as Labrune syndrome. The disease more commonly affects children and young adults and the characteristic triple imaging findings are leukoencephalopathy, calcifications and multiple cysts, presenting with a variety of supra- and infratentorial symptoms but lacking for extra-neurological manifestations. Coats plus syndrome and cerebroretinal microangiopathy with calcifications and cysts (CRMCC) share similar neurological findings with LCC, but additionally involves other extra-neurological organs.
View Article and Find Full Text PDFMendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Neurobiol Aging
June 2018
Reta Lila, Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Mendelian adult-onset leukodystrophies are a spectrum of rare inherited progressive neurodegenerative disorders affecting the white matter of the central nervous system. Among these, cerebral autosomal dominant and recessive arteriopathy with subcortical infarcts and leukoencephalopathy, cerebroretinal vasculopathy, metachromatic leukodystrophy, hereditary diffuse leukoencephalopathy with spheroids, and vanishing white matter disease present with rapidly progressive dementia as dominant feature and are caused by mutations in NOTCH3, HTRA1, TREX1, ARSA, CSF1R, EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5, respectively. Given the rare incidence of these disorders and the lack of unequivocally diagnostic features, leukodystrophies are frequently misdiagnosed with common sporadic dementing diseases such as Alzheimer's disease (AD), raising the question of whether these overlapping phenotypes may be explained by shared genetic risk factors.
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