Albina Silva

Severe pertussis in newborns and young vulnerable infants.

A retrospective chart review of 18 nonvaccinated newborns and infants admitted to 6 intensive care units in the north of Portugal between 2007 and 2012 revealed a high rate of admissions in 2012 along with significant rates of severe pulmonary hypertension and mortality. Hyperleukocytosis was significantly associated with a more severe clinical picture and mortality.

Novel ABCA3 mutations as a cause of respiratory distress in a term newborn.

We report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.

A case of systemic pseudohypoaldosteronism with a novel mutation in the SCNN1A gene

We report a neonatal case of systemic pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene (homozygous c.1052+2dupT in intron 3) in which the patient presented with life-threatening hyperkalemia, hyponatremia and metabolic acidosis. It remains uncertain if there is genotype-phenotype correlation, due to the rarity of the disease. This mutation, which to our best knowledge has not been described before, was associated with a very severe phenotype requiring aggressive therapy.

A novel SRY nonsense mutation in a case of Swyer syndrome

Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell have a female appearance. They generally have female external genitalia, a normal uterus and Fallopian tubes, but no functional gonads. Its prevalence is about 1 in 30,000 births. Mutations in the SRY gene have been identified in 15-20% of the cases. The authors present the clinical case of a female fetus, who was the first child of young, healthy, unrelated parents, with increased nuchal translucency in first trimester ultrasonography and combined risk for Down syndrome of 1/20. Prenatal karyotype was 46,XY. Delivery occured at 37 weeks gestation by cesarean section. Uneventful neonatal period. At birth she had adequate weight and height and presented complete female external genitalia with no other abnormalities. Pelvic ultrasound showed normal morphology of the uterus, ovaries were not visualized. Hormonal study was normal. Repeated postnatal karyotype confirmed 46,XY. Follow-up on Neonatology Consultation as outpatient. Abdomino-pelvic MRI (3 months old) showed presence of uterus with normal dimensions and appearance and ovaries not clearly defined. The molecular genetic testing revealed the Q 114X (c.340 C>T) mutation of the SRY gene, a nonsense mutation that as not been described. Early diagnosis of Swyer syndrome in childhood is only possible if a karyotype is carried out for other reasons, such as for example as part of prenatal diagnosis (as it happened with our patient). This prompt diagnosis is important for early institution of hormone replacement therapy and close monitoring, because of the risk of gonadal malignancy. Clinical and imaging surveillance is mandatory in order to program early gonadectomy if necessary. In our patient, the novel mutation detected in the SRY gene may be an aetiopathogenic factor in clinically defined 46,XY complete gonadal dysgenesis.

Acute neonatal appendicitis: the potential value of laparoscopy as a diagnostic and therapeutic tool

Abstract Appendicitis is the most common cause of acute abdominal pain requiring surgical intervention in children, but it is very rare in infants and neonates. Nonspecific clinical features and low index of suspicion make its diagnosis and management particularly challenging, which may result in high chances of complications such as perforation and peritonitis, thus increasing morbidity and mortality. We present the case of a female late preterm newborn with bloody stools and bilious gastric aspirates on the second day of life. After 24 h of clinical, laboratory and radiological surveillance, which evidenced deterioration in the newborn’s condition, an exploratory laparoscopy was performed, showing generalized peritonitis and perforated inflammatory appendix. A laparoscopic appendicectomy was performed. Histology confirmed the appendicitis diagnosis. The authors enhance the value of diagnostic laparoscopy and its potential as a therapeutic tool in neonates.

Late-preterm birth in a level III hospital: incidence and associated morbidity

Introduction: Late-preterm infants are physiologically and metabolically immature and have important risk of morbidity and mortality. Aim: To analyze the incidence of late prematurity and its associated morbidity and mortality at a level III hospital between 2011 and 2013. Methods: This was a descriptive and retrospective study of infants born between 34 + 0/7 and 36 + 6/7 weeks’ gestation and its associated morbidity and mortality. Medical records were reviewed. Results: In a 3-year period there were 8,458 births of witch 513 (6.1%) were late-preterm infants. Of these, 99/513 (19.3%) had 34 weeks’ gestation, 145/513 (28.3%) had 35 weeks’ gestation and 269/513 (52.4%) had 36 weeks’ gestation. Late-preterm birth rate was 5.7% in 2011, 6.9% in 2012 and 5.6% in 2013 (p = 0.08). In relation to birth weight, 269 (52.4%) of late-preterm infants had low birth weight. There was an association between gestational age and birth weight (p = 0.002). Of the 513 late-preterm infants, 177 (34.5%) were admitted to the Neonatal Intensive Care Unit (NICU) and more often at 34 weeks’ gestation (69/99, 69.7%) than at 35 (57/145, 39.3%) and 36 (51/269, 19.0%) weeks’ gestation (p < 0.001). Most frequent clinical diagnoses were hyperbilirubinemia (112/177, 63.3%), feeding difficulties (111/177, 62.7%), transient tachypnea of the newborn (71/177, 40.1%), hypoglycemia (38/177, 21.5%), intrauterine growth restriction (33/177, 18.6%). Average length of hospitalization was 12 days. Newborns of 34 weeks’ gestation were longer admitted than newborns of 35 and 36 weeks’ gestation (15.3 vs 9.8 vs 10.8 days; p = 0.002). There was one death due to sepsis after surgical correction of gastroschisis. Conclusion: The incidence of late-preterm birth remained stable between 2011 and 2013. Late-preterm hospitalization rate in the NICU was 34.5%. Hyperbilirubinemia, feeding difficulties and respiratory disease were the main diagnosis. Late-preterm of 34 weeks’ gestation were admitted more frequently and for longer periods than the remaining newborns. It’s important to pay particular attention to this group of infants.

Isotretinoin embryopathy: report of one case

Retinoic acid is a derivative of vitamin A. Retinoic acid embryopathy is an association of malformations caused by the teratogenic effect of retinoic acid, a drug used for the treatment of cystic acne. Isotretinoin is also known as 13-cis-retinoic acid. The risk of malformations after exposure to oral isotretinoin has been evaluated to be around 20%. Affected infants may present craniofacial, central nervous system, cardiac, and thymus abnormalities. There is also an increased risk of spontaneous abortions and premature delivery. Isotretinoin may also have effects on child behavior in about 30-60% of children exposed to it. Termination of pregnancy may be considered in cases of pregestational and/or gestational exposure to isotretinoin. The authors present the case of an infant male who was the first child of young, healthy, unrelated parents, whose mother was exposed to isotretinoin in both pregestational and gestational periods. He had a developmental delay, craniofacial abnormalities (low-set and dysplastic ears with anteverted lobules, frontal upsweep, hypertelorism, flat nasal bridge and prominent filter) and apparent articular hypermobility, more obvious in his knees. Brain magnetic resonance imaging showed absence of cerebellar vermis, midbrain dysplastic configuration with thickened superior cerebellar peduncles, decreased thickness of pons-midbrain transition, right cerebellar hemisphere dysplasia, mild decrease in corpus callosum thickness, and enlarged pericerebral subarachnoid space. The features described are compatible with isotretinoin embryopathy, according to the literature. This case aims to raise awareness about the use of teratogenic drugs in women of childbearing age, especially isotretinoin, and the importance of information regarding effective contraceptive methods, with compulsory pregnancy testing.

Adams-Oliver syndrome, a successful conservative approach for a large scalp defect

Adams-Oliver syndrome was first described in 1945 as a multiple congenital malformations association including aplasia cutis congenita and terminal transverse limb defects, along with cardiovascular and central nervous system anomalies. We report the case of a boy, prenatally diagnosed with a malformation of feet and right hand. At birth, a malformation of the skull was observed, at midline and right frontal, parietal and occipital region, with meningeal exposition. He presented with abnormal feet and right hand with hypoplastic fingers and also exhibiting cutis marmorata telangiectatica. Cardiac, abdominal and central nervous system malformations were excluded. He started a conservative approach based on daily dressings. The scalp defect closed at 4 months with this management strategy. At this age, a skull defect about 5 cm long was still perceptible by palpation of the area. The boy showed normal growth and neurologic development. No complications were reported. This report reinforces the effectiveness of conservative management strategies for extensive bone and epithelization defects in syndromes of aplasia cutis congenita like Adams-Oliver syndrome.

Novel chromosomal translocation t(7;14)(q36.3;q11.2)dn in a female child with dysmorphic features

When evaluating a newborn with peculiar phenotype it is mandatory to perform chromosomal studies. In this case report, the genetic study revealed a novel de novo translocation involving chromosome 7 and 14, thus establishing the following karyotype: as 45,XX,der (7)t(7;14)(q36.3;q11.2),-14dn.ish 7q36.3(VIJyRM2185 enh).mpla 7qsubtel(P036-E1,P070-B2)x3,14q11.2(P036-E1,P070-B2)x1.

Severe Bacillus cereus infection in a neonatal intensive care unit

Abstract Infections of the central nervous system (CNS) in neonates with very low birth weight (VLBW) may have major clinical consequences due to their immunocompromised status. Bacillus cereus is a rare pathogen that can cause serious infection in these patients and is associated with a high mortality rate. We report the case of an extremely preterm neonate who developed severe infection of the CNS caused by B. cereus with progressive neurological deterioration despite broad spectrum antibiotic treatment. She died at the age of 16 months. In conclusion, we wish to increase the awareness among health care practitioner about the possibility of infection due to B. cereus in sick neonates and its devastating course in this population.