Introduction:Cayler cardio-facial syndrome is a rare syndrome associated with asymmetric crying faces with congenital heart disease. We report a newborn that was diagnosed as case of Cayler Cardio-facial syndrome based on clinical features and was confirmed with FISH analysis.Case Presentation:A term male baby, born to non-consanguineous couple through normal vaginal delivery was diagnosed to have asymmetric crying faces with deviation of angle of mouth to left side at the time of birth. The baby had normal faces while sleeping or silent. Mother was known case of hypothyroidism and was on treatment. Baby was diagnosed as case of Cayler Cardio-facial Syndrome and was investigated with echocardiogram, brain ultrasound, total body X-ray examination, X-ray of cervico-thoracic vertebral column and fundus examination. Echocardiogram showed muscular VSD, brain ultrasound was normal and fundus examination showed tortuous retinal vessels. Whole body X-ray and lateral X-ray of cervico-thoracic vertebral column were not suggestive of any skeletal abnormalities. The other associated malformation was right ear microtia. Baby FISH karyotype analysis showed deletion of 22q11.2 deletion. Baby was discharged and now on follow-up.Conclusions:Cayler syndrome is a rare syndrome which must be suspected if a baby has asymmetrical cry pattern and normal facies when baby sleeps. Patient must be evaluated with echocardiography to find out associated cardiac malformations. These infants should undergo FISH analysis for 22q11.2 deletion syndrome.
Objective Neonatal sepsis is associated with abnormal neurodevelopmental outcomes but not with poor growth at 9 to 15 months of corrected age in LBW infants. Design, Setting, and Participants This is a prospective cohort study involving 128 eligible preterm low-birth-weight (LBW) infants admitted during the period of 2013-2014 to the Durgabai Deshmukh Hospital and Research Center. All patients were followed up in the outpatient Department of Pediatrics. They were divided into the sepsis and nonsepsis group. Results A total of 94 infants were evaluated (40 in sepsis and 54 in nonsepsis group). At the age of 9–15 months, low-birth-weight infants with neonatal sepsis had an increased risk of neurodevelopmental disorders (67.5 versus 20.3%; RR: 3.31 (1.87–5.85)). There is no statistically significant difference in the growth outcomes. Conclusion Neonatal infections are associated with the abnormal neurodevelopmental outcomes in LBW infants but there was no significant difference at growth outcome at 9 to 15 months of corrected age between both groups.
Background: Intussuception is rare cause of surgical emergency in neonate, and still more rarer in preterm neonate. The clinical features can mimic necrotising enterocoloitis or intestinal obstruction. If left untreated, it can lead to adverse outcomes. Case summary:We report a case of ileo-ileal intussusceptions in a male preterm infant of 28weeks of gestation who was born to a primi mother from south India. The neonate initially had feed intolerance, abdominal distention and recurrent apneas on day 8 of life. The x-ray abdomen also showed pneumatosis intestinalis. We kept necrotising enterocolitis as the primary diagnosis. As the neonate deteriorated, surgical exploration was planned. The diagnosis of ileo-ileal intussusceptions was made only at the time of laprotomy. Resection of the gangrenous segment and anastomosis of the healthy gut was done. Conclusion:Intussusception can mimic other abdominal conditions in the neonatal period. Timely suspicion and intervention can improve the outcomes.
Neonatal scrotal haematoma is a rare entity which requires prompt diagnosis and management. Mostly the diagnosis is confirmed at exploration. A male baby was delivered by Caesarean section with antenatally identified scrotal mass. Examination and work-up pointed to idiopathic scrotal haematoma which was drained surgically. No cause of scrotal haematoma could be identified. The baby is doing fine postoperatively.
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