Survival analysis and life expectancy of pediatric patients with spinal muscular atrophy in Thailand.

Background: Survival data for Thai patients with 5q spinal muscular atrophy (SMA), the leading cause of infant mortality worldwide, are lacking.

Objective: This study aimed to determine the survival rates and life expectancies of pediatric patients with SMA types 1, 2, and 3.

Methods: We conducted a retrospective cohort analysis of genetically confirmed 5q SMA patients aged 0-18 years who were treated between 1999 and 2021 at the pediatric neuromuscular clinic of Siriraj Hospital, Bangkok, Thailand.

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.

Background: Inherited peripheral neuropathy presents a diagnostic and therapeutic challenge due to its association with mutations in over 100 genes. This condition leads to long-term disability and poses a substantial healthcare burden on society.

Objective: This study aimed to investigate the distribution of genes and establish the genotype-phenotype correlations, focusing on pediatric-onset cases.

Incidence and associated factors of congenital syphilis at a tertiary care center in Thailand.

Background: The incidence of congenital syphilis is increasing worldwide, in parallel with the increase of syphilis in the general population.

Objectives: This study aimed to determine the incidence and risk factors for congenital syphilis at a referral tertiary care center in Bangkok, Thailand.

Methods: This is a case-control study using the hospital medical records of neonates born at our hospital, whose mothers had confirmed syphilis during pregnancy or at delivery between 2011 and 2018.

Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder caused by abnormal expression of the DUX4 protein, commonly resulting from a contraction of D4Z4 repeat units with the presence of a polyadenylation (polyA) signal. More than 10 units of the D4Z4 repeat, with a length of 3.3 kb per unit, are typically required to silence DUX4 expression.

Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.

Muscular dystrophies and congenital myopathies are heterogeneous groups of inherited muscular disorders. An accurate diagnosis is challenging due to their complex clinical presentations and genetic heterogeneity. This study aimed to determine the utilisation of exome sequencing (ES) for Thai paediatric patients with muscular disorders.

Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand.

Background: Neuronal ceroid lipofuscinoses (NCLs) (hereafter described as CLN disease) comprise a rare and life-limiting set of genetically inherited neurodegenerative disorders that are characterized by abnormal lysosomal storage. The NCL disorders are, collectively, the most common group of degenerative brain disorders in children.

Patient Descriptions: We report two cases of CLN disease that were diagnosed and treated at the Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.

Polyneuritis Cranialis Associated with BNT162b2 mRNA COVID-19 Vaccine in a Healthy Adolescent.

A 16-year-old Thai girl developed right facial palsy, a lower motor neuron lesion, and numbness 3 h after receiving the first dose of the BNT162b2 mRNA vaccine. Neurological examination showed the involvement of the right cranial nerves (CN) V, VII, IX, and X. Electrophysiological tests revealed the absence of an F wave response, suggesting a proximal demyelinating process.