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Total Intravenous Anesthesia for Intraoperative Neurophysiological Monitoring in a Child With Diastematomyelia: A Case Report.
Cureus
December 2024
Radiology, SRM Medical College Hospital and Research Center, Chennai, IND.
Intraoperative neurophysiological monitoring (IONM) has achieved popularity because it facilitates monitoring of the functional integrity of neural structures under general anesthesia. It aids in the early detection of injury and minimizes postoperative neurologic deficit or neurologic morbidity from surgical manipulations of various neurologic structures. The patient mentioned in this case report presented with lower limb radiculopathy and was diagnosed with diastematomyelia Type II, and she was planned for surgical intervention under general anesthesia.
View Article and Find Full Text PDFKCNMA1-Related Episodes of Behavioral Arrest and Loss of Postural Reflexes: A Critical Reappraisal.
Mov Disord Clin Pract
December 2024
Service de Neuropédiatrie, CHU Montpellier, Montpellier, France.
Article Synopsis
- - KCNMA1-linked channelopathy leads to neurodevelopmental disorders, epilepsy, and non-epileptic episodes characterized by specific facial, behavioral, and physical symptoms.
- - A review of 14 videos highlighted typical episode features: facial changes, behavioral arrest, loss of postural control, and quick recovery without drowsiness, with episodes often triggered by emotions.
- - Distinguishing KCNMA1-related attacks from other conditions like paroxysmal dyskinesia and cataplexy will improve accurate diagnosis and targeted treatment for affected individuals.
Hypocalcemia-induced seizures in a peritoneal dialysis (PD) patient: A case report.
Clin Case Rep
October 2024
Department of Medical Microbiology, Faculty of Medical Laboratory Sciences Omdurman Islamic University Khartoum Sudan.
Article Synopsis
- A thorough evaluation is essential for managing seizures related to hypocalcemia, both during the seizure episode and post-recovery, to identify underlying causes for optimal treatment outcomes.* -
- The case of a 22-year-old female with end-stage kidney disease illustrates the complications of seizures, hypocalcemia, and vitamin D deficiency, which improved with targeted treatment.* -
- Proper management and adherence to therapy can effectively prevent future hypocalcemic seizures in patients with similar health challenges.*
Collapse of an early adolescent girl. Syncope? Simple or sinister?
BMJ Case Rep
October 2024
Paediatrics, Maidstone and Tunbridge Wells NHS Trust, Tunbridge Wells, UK.
An early adolescent girl presented to the emergency department (ED) of her local hospital following a syncopal episode after a warm bath on a background of increasing breathlessness for 1-year duration. On examination, she was fully alert, no pain or injuries from her syncope, she was warm and well perfused, her respiratory rate at rest was normal and she showed no signs of respiratory distress, there were no signs of seizure activity such as incontinence or tongue biting, she had a raised Jugular Venous Pressure (JVP), a loud pansystolic murmur, there was no cyanosis and no oedema. She was referred for a chest radiograph due to her history of breathlessness and for an ECG based on the examination findings of a murmur.
View Article and Find Full Text PDFFurther description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.
Genet Med
January 2025
Dept of Neuromuscular Disease, UCL Institute of Neurology, Queen Sq, London; National Hospital for Neurology and Neurosurgery, Queen Sq, London; National Institute for Health and Care Research (NIHR) and University College London Hospitals, Biomedical Research Centre, London. Electronic address:
Article Synopsis
- The study reports on nine new cases of Ceroid lipofuscinosis type 11 (CLN11) from Latin American families, a rare disease with previously limited documentation.
- Patients showed slow disease progression, with symptoms including visual impairment, seizures, and cognitive decline, starting between ages 3 and 17.
- The findings highlight a potential diagnostic clue for CLN11 and include two specific genetic variants associated with the condition.
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