Browsing by Author "Sakpichaisakul K."

Filter results by typing the first few letters
Now showing 1 - 3 of 3
  • No Thumbnail Available
    ItemMetadata only
    Epileptic spasms related to neuronal differentiation factor 2 (NEUROD2) mutation respond to combined vigabatrin and high dose prednisolone therapy
    (2022-12-01) Sakpichaisakul K.; Boonkrongsak R.; Lertbutsayanukul P.; Iemwimangsa N.; Klumsathian S.; Panthan B.; Trachoo O.; Mahidol University
    Background: Epileptic spasms are a devastating form of early infantile epileptic encephalopathy (EIEE) with various etiologies. Early diagnosis and a shorter lead time to treatment are crucial to stop the seizures and optimize the neurodevelopmental outcome. Genetic testing has become an integral part of epilepsy care that directly guides management and family planning and discovers new targeted treatments. Neuronal differentiation Factor 2 (NEUROD2) variants have recently been a cause of neurodevelopmental disorders (NDDs) and EIEEs with distinctive features. However, there is limited information about the clinical and electroencephalographic response of epileptic spasm treatment in NEUROD2-related NDD syndrome. Case presentation: We report a female patient of Southeast Asian ethnicity with global developmental delay and epileptic spasms commencing in the first few months of life. A novel de novo heterozygous pathogenic NEUROD2 variant, p. E130Q, was subsequently identified by whole-exome sequencing. Electroencephalogram before treatment showed multifocal independent spikes predominantly in both posterior head regions and demonstrated marked improvement following combined vigabatrin and high-dose prednisolone treatment. However, multiple courses of relapse occurred after weaning off the antiseizure medication. Conclusions: We propose that epileptic spasms related to de novo NEUROD2 pathogenic variant respond well to combined vigabatrin and high-dose prednisolone therapy. These findings may imply the benefit of using combination therapy to treat epileptic spasms in NEUROD2-related NDD syndrome.
  • No Thumbnail Available
    ItemMetadata only
    Spinal muscular atrophy in an upper-middle-income nation before the advent of reimbursed disease-modifying therapies
    (2024-08-30) Sakpichaisakul K.; Katanyuwong K.; Intusoma U.; Paprad T.; Suwanpakdee P.; Khongkhatithum C.; Sanmaneechai O.; Sakpichaisakul K.; Mahidol University
    Objective To elucidate the clinical characteristics and standard of care (SoC) of spinal muscular atrophy (SMA) patients in Thailand, focusing on primary endpoints: age at death and a composite of death or tracheostomy need. Design Retrospective observational study. Setting Seven tertiary centres across Thailand. Patients Records of 110 patients with genetically confirmed SMA, spanning 2012-2021. Interventions Historical data review; no active interventions. Main outcome measures Age at death and a composite measure of death or tracheostomy necessity. Results The cohort included 1 SMA0, 50 SMA1, 40 SMA2 and 19 SMA3 cases. Median ages at the onset and diagnosis of SMA1 were 3 and 6.2 months. Of SMA1 patients, 63% required ventilators, and eight received dimethyltryptamines (DMTs) at a median of 15 months (range 6.4-24.5 months). The median time from onset to DMT was 11 months (range 4.2-20.5 months). Among SMA1 patients, 73% died by the study's end. SMA2 and SMA3 patients' median onset ages were 11 and 24 months, respectively, with diagnosis at 24.8 and 68.7 months. Half of all types received physical therapy. Conclusions Significant delays in diagnosis and SoC access, including DMTs, were observed, underscoring urgent needs for improved diagnostic and care strategies to enhance SMA patient outcomes in Thailand.
  • No Thumbnail Available
    ItemMetadata only
    Successful Treatment of Schwartz-Jampel Syndrome with Botulinum Toxin Type A
    (2024-01-01) Suphatsathienkul P.; Sakpichaisakul K.; Wechapinan T.; Trachoo O.; Virawan S.; Wanitphakdeedecha R.; Suphatsathienkul P.; Mahidol University
    Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by typical facial dysmorphism, generalized muscle stiffness, joint contracture, and skeletal abnormalities. This condition is caused by mutations in the heparan sulfate proteoglycan 2 (HSPG2) gene, which encodes perlecan, a component of the basement membrane. The management of patients with SJS primarily aims to alleviate symptoms related to muscle stiffness. In this report, we describe a male patient with SJS type 1A. Trio whole-exome sequencing identified a pathogenic mutation (NM_001291860.1: c.10897C>T; p.Arg3633Ter) and variants of unknown significance (NM_001291860.2: c.413+10G>T). The patient experienced difficulty in opening his eyes and mouth, which significantly limited his daily activities. Botulinum toxin A injection was administered and demonstrated significant clinical improvement after the treatment.