Introductions: Congenital malformations need to be identified and intervened early to save lives and prevent sufferings. Many birth defects have well known incidence/prevalence rates but these have not been studied thoroughly in the local population of Nepal. The current study was undertaken to determine the prevalence of congenital malformation at birth, to classify them systematically, to study risk factors and immediate outcome of the newborn babies afflicted.Methods: This was a cross sectional study. All newly delivered babies were examined carefully for congenital malformation and when detected, the parents were interviewed in detail.Results: Over the 10 months of study period 7,922 babies were delivered out of which 90 were stillborn. The number of babies with malformations was 64 (0.81%). Polydactyli was observed in 12 (19%) babies whereas cleft lip/palate and malformations of ears in seven (11%) each. Musculoskeletal system was affected in 31 (35%) cases and craniofacial in 18 (21%). Nine (14%) mothers had bad obstetric history and eight (13%) had illness/medication during pregnancy.Conclusions: Congenital malformation is a significant cause of morbidity and mortality in Patan hospital. Our findings support many established thoughts like higher rates in stillbirths but also challenge some age-old beliefs like higher rates in babies born to older mothers.
Glut-1 transporter deficiency syndrome (GLUT1-DS) is a rare disorder caused by the mutation in SLC2A1 gene, which results in impaired glucose transport into the brain. It has a broad spectrum of phenotypic presentation ranging from cognitive decline, microcephaly, and refractory seizures to complex movement disorder. Recognition of this disorder is necessary as it is refractory to antiepileptic drugs (AEDs) and responds significantly to ketogenic diet. We report a case of 7-year-old girl who presented with paroxysmal eye movements in infancy with early-onset absence epilepsy (EOAE), which worsened in early morning and on fasting and was found to be refractory to four AEDs. She had mild developmental delay and subtle ataxia. Cerebrospinal fluid showed hypoglycorrhachia, and molecular analysis identified deletion in exon 4 of SLC2A1 gene (p.leu169del), thus confirming GLUT1-DS. She had a near-complete seizure control on ketogenic diet. Thus, GLUT1-DS should be suspected in all cases of refractory generalized seizures specially EOAE, especially if it worsens on fasting, is associated with development delay, positive family history, or paroxysmal movement disorder.
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