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Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.
Mol Genet Metab Rep
March 2025
Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
Background: The efficacy and safety of avalglucosidase alfa for Pompe disease (PD) have been demonstrated in a global Phase 3 trial (COMET) in patients with late-onset PD (LOPD) and a global Phase 2 trial (Mini-COMET) in patients with infantile-onset PD (IOPD). This case series examines the individual results of three Japanese patients enrolled in these trials.
Methods: Case reports were assembled from data collected in the COMET and Mini-COMET trials.
Favorable response to ketogenic diet therapy in a patient with -related epilepsy.
Epilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
View Article and Find Full Text PDFNovel nonsense mutation in gene identified by whole-genome sequencing in infant with epilepsy disorder: A case report.
Heliyon
January 2025
Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay Batyr Ave 53, Astana, 010000, Kazakhstan.
Epilepsy is one of the most common neurological disorders affecting approximately 50 million people worldwide. It impacts people of all genders and ages, but evidence suggests a higher incidence rate in children and the elderly. Given that childhood epilepsy has the risk of causing developmental epileptic encephalopathy, which is associated with intellectual, behavioral, and/or motor disabilities, proper assessment of children with new-onset epilepsy at an early stage is essential to prevent threats affecting neurodevelopmental processes.
View Article and Find Full Text PDF'PHACE' on the 'face'.
BMJ Case Rep
January 2025
Paediatric Department, SJOG Midland Public Hospital, Midland, Western Australia, Australia.
Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma.
View Article and Find Full Text PDFVentricular tachycardia induced by adrenocorticotropic hormone therapy in infantile epileptic spasms syndrome: A case report.
Seizure
January 2025
Division of Neurology, Saitama Children's Medical Center, Saitama, Japan.
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