Carla Sá

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.

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.

Prader-Willi Syndrome: an under-recognized cause of hypotonia?

The “floppy infant” is a well-recognized entity characterized by generalxadized hypotonia presenting at birth or in early life. Hypotonia represents a diagnostic challenge because it may be the presentation sign of numerous diseases, as central or peripheral nervous system abnormalities, myopathies, genetic disorders, endocrinopathies, metabolic diseases and acute/chronic illness. Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder that results from an abnormality in chromosome 15. Diagnosis is often delayed because clinical findings are relatively nonspecific and the dysmorphism is often subtle. We describe three term male newborns admitted in the first day of life for hypotonia and feeding difficulties. Pregnancy and familiar history were unremarkable. Clinical examination revealed marked global hypotonia, few active movements, weak cry, poor suck reflex, micrognathia, cryptorchidism, facial dysmorphic features: almond-shaped eyes with short palpebral fissures, narrow bifrontal diameter and short neck. Laboratory evaluations were normal. Brain ultrasound and magnetic resonance had no alterations. Cardiac and metabolic evaluations were irrelevant. PWS was suspected and genetic evaluation was performed. The methylation analysis specific for PWS confirmed the diagnosis. In the three cases it was observed development milestones delay, with progressive improvement after multidisciplinary approach. At last follow-up visit, all of them walk alone, explore the surrounding environment, understand simple language and say some words. These reports reinforce the idea that PWS should be considered in the presence of newborn hypotonia, and feeding difficulties, even in absence of typical facial features. Detecting PWS at neonatal age is important because it allows early intervention and better management of such infants.

Perinatal stroke: a six-year experience in a level-III maternity

Aims: To study the incidence of perinatal stroke in a level-III maternity as well as potential risk factors, clinical presentation, neuroimaging, classification and clinical outcome of children with a minimum follow-up of 24 months. Methods: Historical prospective follow-up of all term and late preterm newborns diagnosed with perinatal stroke from January 2008 to December 2013. Results: Fifteen perinatal strokes were diagnosed in a total of 17,056 newborns (incidence 0.9/1,000). Thirteen had potential risk factors and fourteen were symptomatic. Median age at diagnosis was two days. Seizures were the most frequent symptom (14/15), being three focal-clonic, one multifocal-clonic, two generalized-tonic, three focal-tonic and five subtle. Cerebral ultrasound was performed in eleven newborns at an early stage, suggesting the diagnosis in six. Cerebral magnetic resonance imaging (MRI) confirmed the diagnosis in fifteen. Six had an arterial ischemic stroke, eight a cerebral venous thrombosis and one a hemorrhagic stroke. An electroencephalogram was obtained in all newborns with seizures revealing epileptic activity in eight. Search for prothrombotic disorders (in newborn and both parents) showed four newborns heterozygous methylene tetrahydrofolate reductase mutation and two neonatal alloimune thrombocytopenia. No recurrence of stroke was reported. Formal development evaluation was performed in thirteen and was normal in eleven, while in two revealed delayed psychomotor development, both of which with epilepsy. On the neonatology outpatient clinic follow-up, the current median age is 3 years and 11 months. Conclusions: This study reinforces the need to maintain high level of suspicion for perinatal stroke and the importance of MRI in the classification and etiological study. Our follow-up supported a good outcome of perinatal stroke.

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.

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.