Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes.

Inborn errors of metabolism constitute a differential diagnosis in infants presenting with encephalopathy in developing countries where expanded newborn screening is not a state health programme. Acute neurological presentation with encephalopathy is documented in paediatric COVID-19. The pandemic has also altered parents' healthcare-seeking behaviour, leading to delays in emergency care. We illustrate the challenges faced in diagnosing and managing an 18-month-old child who presented with acute metabolic crisis due to methylmalonic acidaemia on the background of the COVID-19 pandemic. We discuss the current global status of expanded newborn screening services for inborn error of metabolism and the impact of the pandemic on the healthcare of children.

Solitary median maxillary central incisor with congenital strabismus and autoimmune thyroiditis in a young child.

Single median maxillary central incisor (SMMCI) syndrome is rare. It is commonly associated with other midline defects. About 50% of children with SMMCI have short stature, associated with isolated growth hormone deficiency or panhypopituitarism.A 6-year-old girl presented to us with worsening convergent squint, slowing linear growth and a suspected pituitary macroadenoma on neuroimaging. The key findings on examination included a disproportionate short stature, SMMCI, congenital abduction defect and pseudohypertrophy of calf muscles with myopathy. The evaluation showed autoimmune thyroiditis with pituitary hyperplasia. Bone age corresponded to 3 years.Three months after initiation of thyroxine, her myopathy resolved, and the hormone profile and neuroimaging were normal. Autoimmune thyroiditis in association with SMMCI is not reported previously. This case study emphasises the importance of growth monitoring and the exclusion of common treatable conditions.

Pregnancy Outcome in Occupational Tobacco Exposure: A Cohort Study from South India.

BACKGROUND: Women constitute a significant labor pool in the Indian tobacco industry as bidi (hand-rolled cigarette) rollers. On an average, they roll around 600 bidis/day and are exposed to 120 g of tobacco and 3 g of nicotine. Bidis do not have chemical preservatives or stabilizing agents, and therefore, the rollers are exposed only to nicotine by handling and inhalation. The study objective was to assess pregnancy outcome in these women with occupational tobacco exposure. MATERIALS AND METHODS: A prospective cohort study of bidi-rollers (n = 177) and women with no tobacco exposure (n = 354), followed up for pregnancy outcome, neonatal anthropometry, and nicotine absorption by cotinine assays. Adjusted risk and adjusted mean differences with a 95% confidence interval were derived. RESULTS: Outcomes included increased adjusted risk for gestational hypertension (3.54 [1.21, 10.31]; P = 0.021) and fetal growth restriction (2.71 [1.39, 5.29]; P = 0.004). Risk for prematurity was not statistically significant (1.81 [0.74, 4.45]; P = 0.194). Lower adjusted mean difference of birth weight (-104 g [-177, -31]; P = 0.005), length (-0.4 cm [-0.8, -0.1]; P = 0.006), and head circumference (-0.4 cm [-0.6, -0.1]; P = 0.002) were seen with increased risk for small for gestational age (1.75 [1.12, 2.73]; P = 0.015). Nicotine absorption was evident in one-third of maternal and cord blood estimations. CONCLUSION: Occupational passive tobacco exposure results in adverse pregnancy outcome.

Cystine Urolithiasis in Early Childhood.

Urolithiasis in children is rare with reported incidence of 1.8 per 1000 children. A metabolic cause is identifiable in 40-50% of children with stones and is considered when multiple, recurrent and bilateral. Cystinuria is an important preventable cause of urolithiasis. We present an infant with recurrent gross hematuria due to cystine urolithiasis for its rarity.

Diagnostic Utility of Cord Blood Thyroid Stimulating Hormone in Congenital Hypothyroidism in the Era of Expanded Newborn Screening.

Even in the era of expanded newborn screening, utility of cord blood thyroid stimulating hormone (cTSH) for diagnosis of congenital hypothyroidism (CH) cannot be marginalised. This study was to assess the diagnostic utility of cTSH > 20 µIU/L for screening CH. Generation of new cTSH value was the main outcome measure, to increase specificity. Designed as a cross-sectional analytic study in the neonatal unit of teaching hospital, 1200 term neonates with birth weight ≥2500 g, with no perinatal complications were included. Newborn cTSH assay was done by chemi-luminescence. All screen positive were followed up on day five, 14 and 28 of life, to rule in or out CH (true or false positive). Positive predictive value and specificity were calculated. Receiver operating characteristic (ROC) was done to assess diagnostic accuracy of cTSH > 20 µIU/L and to ascertain new cut-off to reduce false positivity. Of 1200 newborns screened, 69 (5.8%) were screen positive and followed up. In five, CH was confirmed (true positive); one in 240 newborns required thyroxine therapy. False positivity was noted in 59. Recall and dropouts were 6.25 and 7.2% respectively. Median cTSH of screen, true and false positives were 28.8, 43.5 and 27.2 µIU/L respectively. Comparison of median values of cord blood (U = 59; p = 0.017) and day five serum TSH (U = 0.0; p < 0.001) among true and false positive subjects were statistically significant. Specificity calculated was 94.6% and positive predictive value 7.25%. ROC generated new permissible cTSH cut-off value of 30 µIU/L. In conclusion, an extended cTSH cut-off value of 30 µIU/L improves specificity.

Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children.

This case series of three children reports clinical features and chromosomal abnormalities seen in a craniofacial clinic. All presented with orofacial cleft, developmental or intellectual disability, and dysmorphism. Emanuel syndrome or supernumerary der (22)t(11; 22), the prototype of complex small supernumerary marker disorders, was seen in one child. Duplication 4q27q35.2 with concomitant deletion 21q22.2q22.3 and duplication 12p13.33p13.32 with concomitant deletion 18q22.3q23 seen in the remaining two children are not reported in literature. Maternal balanced translocation was established in both of these children.