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Sialidosis type 1 in a Turkish family: a case report and review of literatures.
J Pediatr Endocrinol Metab
December 2024
Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.
Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.
View Article and Find Full Text PDF[Paraneoplastic opsoclonus-myoclonus syndrome].
Zh Nevrol Psikhiatr Im S S Korsakova
December 2024
Kemerovo State Medical University, Kemerovo, Russia.
Opsoclonus-myoclonus syndrome (OMS) is a rare neurological disorder characterized by a combination of main symptoms: opsoclonus, myoclonus, ataxia, psychoemotional and behavioral disturbances. OMS can develop in children as a result of immunopathological processes against the background of infectious or oncological pathology and lead to persistent neurological deficit. A case of ten-year observation of paraneoplastic OMS associated with neuroblastoma in a child is presented.
View Article and Find Full Text PDFOpsoclonus-Myoclonus-Ataxia Syndrome: A Rare Outcome Following Routine Vaccinations.
Cureus
November 2024
Neuropediatrics, Centre for Child Development, Hospital Pediátrico, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Opsoclonus-myoclonus-ataxia syndrome (OMAS) is a rare neurological disorder, affecting approximately 0.18 per million individuals annually. It presents with a triad of opsoclonus, myoclonus, and ataxia, often including cognitive dysfunction and behavioral disturbances.
View Article and Find Full Text PDFThe Use of Perampanel in the Treatment of Lance-Adams Syndrome.
J Epilepsy Res
December 2024
Department of Neurology, Comprehensive Epilepsy Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Lance Adams syndrome (LAS) is characterized by chronic action or intention myoclonus resulting from cerebral hypoxia. Perampanel, a non-competitive antagonist of aamino-3-hydroxy-5methyl-4 isooxazoleproprionic acid glutamate receptor, has demonstrated some efficacy in myoclonic epilepsy and other types of myoclonus. We report significant benefit in a patient with LAS treated with add on perampanel and provide a review of the relevant literature.
View Article and Find Full Text PDFGeneralized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the Gene (R206H).
Case Rep Genet
December 2024
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Aichi, Japan.
Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder caused by heterozygous pathogenic variants and is characterized by both progressive heterotopic ossification of the soft tissues and congenital malformations of the great toe. In addition to pathological skeletal metamorphosis, patients with FOP experience diverse neurological symptoms such as chronic pain and involuntary movements; however, little is known about the association between FOP and epileptic seizures. We report the case of a young boy with FOP who sustained multiple major fractures due to epileptic loss of consciousness.
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