RESUMEN
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.
Asunto(s)
Ataxia Cerebelosa , Epilepsia Generalizada , Epilepsia , Humanos , Lactante , Masculino , Ataxia/tratamiento farmacológico , Ataxia/genética , Mutación , Convulsiones/tratamiento farmacológico , Convulsiones/genética , Transcobalaminas/genética , Transcobalaminas/metabolismo , Vitamina B 12/uso terapéuticoRESUMEN
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.