Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.

Crisponi syndrome (CS) is a rare autosomal recessive syndrome, characterized by episodic facial muscle contraction with trismus, abundant salivation along with intermittent hyperthermia, feeding difficulties, characteristic facial dysmorphism, and camptodactyly. Here the authors report two South Indian neonates with confirmed diagnosis of Crisponi syndrome, caused by novel pathogenic variants in cytokine receptor-like factor 1 (CRLF1) gene. The classical clinical findings observed in the present cases were feeding difficulty, facial dysmorphism, tachypnea, contractures, camptodactyly, opisthotonus, hyperthermia, poor growth, and facial muscle contraction resembling probable tetanus. The patients with variants identified in the signal peptide domain had typical spasms from day one of life as compared to the variants in other domains who had later onset at neonatal period. The authors provide a review of the cases described, so far, from India highlighting that no common variants attribute to this rare syndrome. Recognizing this syndrome is crucial to differentiate it from infective conditions and for effective genetic counseling. Though tetanus is almost eradicated in developing countries, genetic causes should be suspected in new cases.

Foot Length for Gestational Age Assessment and Identification of High-Risk Infants: A Hospital-Based Cross-Sectional Study.

The knowledge of the gestational age of the newborn is essential for management. In the absence of a dating scan, the postnatal assessment scores have drawbacks of being difficult to learn and administer in the community. The measurement of the foot length is easy, reproducible and offers an objective assessment. The objective of this study was to determine the correlation of postnatal (<48 h) foot length measurement (with calipers) with gestational age as determined by antenatal dating ultrasound, create a predictive model for the same and propose foot length measurement cutoffs for <37 and <34 weeks of gestation. Secondary objectives were to assess the correlation between foot length as measured with calipers and that measured with a ruler and a paper footprint. This was a hospital-based cross-sectional study. Among the 520 babies assessed, the correlation of foot length with gestational age was 0.89. Operational cutoffs for the categories of <37 and <34 weeks at a sensitivity of 95% were <70 and <65 mm, respectively. The Pearson's correlation between foot length as measured by caliper and ruler was 0.95 and between caliper and paper footprint was 0.87. This study correlating foot length and gestational age has the potential to help neonatal care providers make informed management decisions, particularly in resource-limited settings.

Effects of Antenatal Magnesium Sulfate on the Gut Function of Preterm (<32 weeks) Very Low Birth Weight Neonates: Experience from a Tertiary Institute in South India.

OBJECTIVE: Antenatal magnesium sulfate (MgSO4) is found to have various adverse effects in newborn, but the effect on preterm gut is still unclear. This study aimed to evaluate the effects of antenatal MgSO4 on preterm gut function by assessing the clinical outcomes and mesenteric blood flow. METHODS: This was a prospective cohort study on all preterm very low birth weight (VLBW) neonates born at a tertiary care center in South India from November 2016 to August 2017. Neonates with antenatal magnesium (Mg) exposure were compared with those with no exposure for various neonatal outcome variables like time to reach full feeds, feed intolerance, necrotizing enterocolitis (NEC) and other preterm complications, serial serum Mg levels and superior mesenteric artery (SMA) Doppler velocity measurements at two time points (24-48 h and 4-5 days after birth). RESULTS: Out of 84 neonates, 56 neonates were exposed to antenatal Mg with a median cumulative maternal dose of 28 g and the rest 28 neonates had no exposure. The mean time to reach full feeds was the same in both groups (10.5 days). Feed intolerance episodes were similar in the first week of life between the exposed and unexposed groups (48.2% vs. 46.4%; p = 0.88). Univariate analysis revealed no difference between groups concerning rates of NEC (p = 0.17) or mortality (p = 0.39). There was no significant difference in SMA Doppler parameters and hypermagnesemia between the two groups. CONCLUSION: Our study found no significant impact on postnatal feed tolerance and mesenteric blood flow among preterm VLBW neonates with antenatal MgSO4 exposure.

Intestinal obstruction with a twist: a rare case of congenital portal vein aneurysm causing intestinal obstruction.

Bilious vomiting is often a presenting feature of upper intestinal obstruction in newborn. We present a case of intestinal obstruction in a newborn baby caused by abnormal vascular band arising from portal vein aneurysm in association with a midgut volvulus. Congenital anomalies of portovenous system are very rare, and it usually presents with portal hypertension in late infancy or childhood. In this particular child, the portal vein aneurysm contributed to intestinal obstruction due to both a failure of intestinal rotation and a mechanical band over the transverse colon.