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Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1.
Obstet Med
December 2024
Department of Anaesthetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Labrune syndrome is a rare neurological autosomal recessive condition characterised by leukoencephalopathy, cerebral calcification and parenchymal cysts. Pregnancy has not been previously reported in an individual with this condition. This case report details the pregnancy of a primiparous woman with Labrune syndrome and neurofibromatosis type 1 who experienced a seizure in the second trimester of pregnancy, but went on to deliver her baby at term with good outcome for mother and baby.
View Article and Find Full Text PDFUnraveling Labrune Syndrome: A Case Report on the Neurological Phenotype in SNORD118-Negative Patients.
Cureus
June 2024
Neurology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.
Labrune syndrome is a rare neurogenetic disorder with varied presentations. Here, we report the case of a 53-year-old male who presented with seizures, gait imbalance, and upper limb tremors for two years. Imaging studies revealed extensive leukodystrophy, multiple cerebral calcifications, and cystic lesions characteristic of Labrune syndrome.
View Article and Find Full Text PDFLeukoencephalopathy with Cerebral Calcifications and Cysts: The Neurosurgical Perspective. Literature Review.
World Neurosurg
October 2024
Department of Neurosurgery, Policlinico Tor Vergata, University of Rome Tor Vergata. Rome, Italy.
Backgrounds: Labrune syndrome is a rare white matter disease characterized by angiomatous leukoencephalopathy, diffuse intracranial calcifications and supratentorial and infratentorial parenchymal cysts. The clinical worsening is often related to cyst expansion, and surgery may be advocated for symptomatic management in about one third of cases. However, no consensus exists on the surgical timing, the most effective procedure, and the long-term results.
View Article and Find Full Text PDFImaging Feature of Leukoencephalopathy with Calcifications and Cysts (Labrune Syndrome).
World Neurosurg
July 2024
Departments of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences, New Delhi, India.
Labrune syndrome is an uncommon central nervous system disorder characterized by leukoencephalopathy, cerebral calcifications, and cysts on brain imaging. The basic pathology is microangiopathy resulting from a mutation in the SNORD118 gene. Radiological imaging is the hallmark of the disease.
View Article and Find Full Text PDFCase report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumab.
Front Neurol
September 2023
Department of Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
Leukoencephalopathy with Calcifications and Cysts (LCC) is a rare genetic microangiopathy exclusively affecting the central nervous system caused by biallelic mutations in . Brain magnetic resonance imaging (MRI) is often diagnostic due to the highly characteristic triad of leukoencephalopathy, intracranial calcifications, and brain cysts. Age at onset, presentation and disease evolution can all vary, ranging from pauci-symptomatic disease to rapid evolution of signs with loss of motor and cognitive abilities.
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