No abstract

Complete trisomy 14 mosaicism is a rare chromosome disorder and was first reported in 1970. We describe a case of a male neonate who presented complete trisomy 14 mosaicism in only 4% of the cells from peripheral blood. A nineteen-day-old male neonate was born as result of the second pregnancy. The infant was delivered by cesarean section due to gestational hypertension and chronic fetal distress. The length of the term pregnancy was 37 weeks, the birth weight was 3.105 g, the length was 48 cm, and the head circumference was 35.5 cm. The baby remained hospitalized for 19 days in the neonatal intensive care unit due to respiratory distress syndrome and congenital malformations. Physical examination revealed a toned and normal activity, followed by phenotypic changes such as a broader forehead, formation of a cleft palate, hypertelorism, low-set ears, bilateral cryptorchidism, absence of the second toe of the left foot (ectrodactyly), and fusion of third and fourth toes in the right foot (bilateral syndactyly). Cytogenetic analysis was performed on peripheral blood cultures after hospitalization in the neonatal intensive care unit. Analysis of 200 G-banded metaphases showed that 192 (96%) had normal karyotype 46,XY and only 8 (4%) presented trisomy 47,XY,+14. It was not possible to perform cytogenetic analysis on the patient's parents. Our patient represents the first case of trisomy 14 disorder to present ectrodactyly.

Objectives Identify missed opportunities for the prevention and early diagnosis of congenital toxoplasmosis (CT) in infants followed up in a reference center for pediatric infectious diseases (PID) in Rio de Janeiro between January 2007 and December 2016. Methods Descriptive study including infants with CT, diagnosis established based on Brazil’s Ministry of Health’s criteria. All data regarding the infants and their mother’s prenatal care were collected from the medical records of the Instituto de Puericultura e Pediatria Martagão Gesteira (IPPMG)—a tertiary public pediatric university hospital. The study enrolled infants aged between 0 and 12 months followed up in the PID department of IPPMG and with confirmed infection by Toxoplasma gondii in the period between January 2007 and December 2016. All patients with diagnosis of CT registered in the PID database of the IPPMG and admitted in the above-mentioned period were included in the study. Patients whose records were not available, or who went to just one clinic appointment were excluded. Results The obstetric history of all 44 women, whose infants (45) were diagnosed with CT, was analyzed. Their median age was 22 years. None had undergone preconception serological testing for toxoplasmosis. Only 20 (45%) of them started antenatal care during the first trimester of gestation, a total of 24 (55%) had more than six antenatal care visits, and 16% of those did not undergo serological testing for toxoplasmosis. None were adequately informed of preventive measures. The diagnosis of acute toxoplasmosis was made in 50% of these pregnancies but 32% of the women were not treated. Only 10 children of these mothers were adequately screened and treated at birth. Conclusion Despite the existence of national recommendations, several opportunities were missed to prevent CT during the antenatal period and to diagnose and treat this condition in the neonatal period.

The progressive increase of the M-DHI during the study period, although to a slightly higher level, was correlated with the reduction in the number of admissions with CAP with PE.

No abstract