BACKGROUND: Transcobalamin II (TCN2) defect is a rare metabolic disorder associated with a range of neurological manifestations, including mild developmental delay, severe intellectual disability, ataxia, and, in some cases, seizures. Cobalamin, an essential nutrient, plays a crucial role in central nervous system myelination. CLINICAL PRESENTATION: We present a family with an index patient who exhibited progressive neurodevelopmental regression starting at 9 months of age, accompanied by myoclonic seizures, ataxia, and tremor. No significant hematological abnormalities were observed. Exome sequencing analysis identified a novel homozygous mutation, c.3G>A - P(Met1I), affecting the acceptor site of intron 4 of the TCN2 gene (chromosome 22: 31003321, NM_000355.4), leading to likely pathogenic variant potentially affecting translation. Following treatment with hydroxocobalamin, the patient demonstrated partial clinical improvement. He has a sibling with overt hematological abnormalities and subtle neurological abnormalities who is homozygous to the same mutation. Both parents are heterozygous for the same mutation. CONCLUSIONS: In infants presenting with unexplained non-specific neurological symptoms, irrespective of classical signs of vitamin B12 deficiency, evaluation for TCN2 defect should be considered. Early diagnosis and appropriate management can lead to favorable outcomes.
Cerebellar Ataxia , Epilepsy, Generalized , Epilepsy , Humans , Infant , Male , Ataxia/drug therapy , Ataxia/genetics , Mutation , Seizures/drug therapy , Seizures/genetics , Transcobalamins/genetics , Transcobalamins/metabolism , Vitamin B 12/therapeutic use
BACKGROUND: IDF estimates that 16.2% of women giving live births in 2015 had some form of hyperglycemia during pregnancy. In Saudi, a study estimated that the prevalence of gestational diabetes mellitus (GDM) is 39.4%. AIM: We aimed to assess Saudi women's GDM knowledge and awareness. METHODS: A cross-sectional study was conducted between August and December 2016 in Saudi Arabia using a validated questionnaire that included 12 questions focused on awareness and knowledge about GDM. Their responses were scored, and participants were divided poor knowledge (≤ 4/12) fair/good knowledge (≥ 5/12). RESULTS: A total of 9002 adult female participated. Mean age was 27.8 ± 7.9, and they were mainly married urban residents with bachelor's degrees or higher. The mean overall score was 5.5 ± 2.5 with most of them in the fair GDM knowledge category. Participants were mostly aware of the GDM risk factors (54%) while they were least aware of the GDM diagnosis (15.9%). Multigravida and a prior history of GDM were the two risk factors about which participants were most aware (67.7%). Compared to those with poor knowledge, those with fair/good knowledge were more likely to live in urban areas, live in the central region of Saudi Arabia, work in medical fields, and be married, educated, and have personal and/or family histories of chronic diseases (all P values < 0.001). CONCLUSION: Our study showed a high prevalence of poor awareness and knowledge, mainly in those areas relating to GDM diagnosis.
