Unlocking the Enigma: Investigating I-Cell Disease in a Newborn Through Placental Pathology.

I-cell disease (Mucolipidosis Type II) is a rare lysosomal storage disorder caused by GNPTAB gene defects, leading to severe morbidity and mortality. The authors present the case of a neonate born at 38 wk gestational age, with suspected skeletal dysplasia during pregnancy and a complex clinical and laboratory presentation after birth. This is a rare case, and its diagnosis was made through placental pathology, which revealed the condition called mucolipidosis Type II. To the best of authors' knowledge, this is one of the few cases diagnosed in the neonatal period with placental pathology globally and the first in Canada, highlighting the significance of placental pathology for the diagnosis of these rare conditions and future counseling of the parents. In conclusion, mucolipidosis Type II is a rare condition in neonates. Early diagnosis in neonates can be made through placental pathology for parental counseling.

Case report: Blotchy skin in a puffy neonate: is there a new association?

Introduction: Purpura fulminans in the neonatal population is a rare but potentially life-threatening condition complicated by thrombosis, resultant vital organ necrosis, and gangrene of the extremities. Considering the rapid evolution of the pathogenetic mechanism, an index of suspicion, early identification, and prompt intervention are imperative for improved outcomes. The majority of purpura fulminans cases have an infectious etiology, but it is essential to consider other congenital and acquired causes. Case description: We present a clinical case of a female neonate to emphasize the correlation between purpura fulminans, congenital chylothorax, involvement of the PAK2 gene, and the occurrence of retinal detachment in both eyes. After draining the congenital chylothorax, the neonate developed purpura fulminans due to a loss of protein C, S, and antithrombin factors, previously not reported in the literature. The purpuric lesions resolved after the administration of fresh frozen plasma. Subsequently, no recurring purpura fulminans lesions were noted following the normalization of the antithrombotic factor levels in the serum. Subsequently, the child also developed retinal detachment in both eyes.

The association of maternal overweight on long-term neurodevelopmental outcomes in premature infants (< 29 weeks) at 18-24 months corrected age.

OBJECTIVE: To determine the association of maternal pre-pregnancy body mass index (BMI) and neurodevelopmental impairment (NDI) at 18-24 months corrected age (CA) in infants born < 29 weeks gestation. STUDY DESIGN: Infants born between 2005 and 2015 at < 29 weeks gestation were included. BMI was categorized into BMI1 [18.5-24.9 kg/m2], BMI2 [25-29.9 kg/m2], BMI3 [ ≥ 30 kg/m2]. Primary outcome was death or NDI (Bayley-III scores < 85, cerebral palsy, hearing or visual impairment). Univariate and multivariate analysis were used. RESULTS: There were 315 infants in BMI1, 235 in BMI2, and 147 in BMI3 groups. Adjusted odds ratio (aOR) of death or NDI in BMI2 vs. BMI1 and BMI3 vs BMI1 groups were 1.33 (95% CI 0.86-2.06) and 0.76 (95% CI 0.47-1.22). Adjusted odds ratio of Bayley-III language composite < 85 was 2.06 (95% CI 1.28-3.32). CONCLUSION: Pre-pregnancy BMI was not associated with death or NDI in extremely preterm infants. Infants born to overweight mothers had higher odds of low language scores.

Classic metaphyseal lesion: A rare presentation in an extreme preterm neonate.

Classic metaphyseal lesions (CML) or bucket handle fractures are usually associated with child abuse or non-accidental injury. The most common sites affected are the distal femur, proximal and distal tibia, and proximal humerus. Few case reports documented its association with difficult extraction at delivery in term large for gestational age (LGA) neonates. We present a case of CML in an extremely preterm neonate following abnormal presentation and difficult cesarean delivery. Management of CML is usually conservative, and fractures heal without any deformities. Thorough history taking is essential in the diagnosis of CML.

Impact of outreach education program on outcomes of neonates with hypoxic ischemic encephalopathy.

AIM: To evaluate the impact of outreach education targeting neuroprotection on outcomes of outborn infants with moderate-to-severe hypoxic ischemic encephalopathy (HIE). METHODS: A retrospective cohort study of infants admitted with moderate-to-severe HIE was conducted following the implementation of outreach education in January 2016. Key interventions were early identification and referral of infants with encephalopathy utilizing telemedicine and a centralized communication system, hands-on simulation, and interactive case discussion and dissemination of clinical management guidelines and educational resources. The association between the intervention and a composite outcome of death and/or severe brain injury on brain magnetic resonance imaging (MRI) was tested controlling for the confounding factors. RESULTS: Of 165 neonates, 37 (22.4%) died and/or had a severe brain injury. This outcome decreased from 35% (27/77) to 11% (10/88) following the implementation of outreach education (P<0.001). Eligible infants not undergoing therapeutic hypothermia within 6 hours from birth decreased from 19.5% (15/77) to 4.5% (4/88). The use of inotropes decreased from 49.3% (38/77) to 19.6% (13/88). Any core temperature below 33°C was recorded for 20/53 (38%) before and 16/78 (21%) after, while those within the target range of 33°C to 34°C at admission to a tertiary care facility increased from (15/53) 28% to (51/88) 58%. Outreach education was independently associated with decreased composite outcome of death and/or severe brain injury on MRI (adjusted odds ratio 0.2; 95% confidence interval 0.07 to 0.52). CONCLUSION: Outreach education targeting neuroprotection for infants with moderate-to-severe HIE was associated with a reduction in death and/or severe brain injury.

A case of neonatal diabetes insipidus following dexamethasone for bronchopulmonary dysplasia.

BACKGROUND: Diabetes insipidus (DI) is a disease resulting from defects in the arginine vasopressin system responsible for regulating body water homeostasis. It is characterized by polyuria with increased serum osmolality and sodium and can result from congenital or acquired disorders. CLINICAL PRESENTATION: A baby was admitted to NICU for extreme prematurity (25 weeks gestation), extreme low birth weight (900 grams) and respiratory distress. He received one dose of Surfactant and was ventilated using high frequency jet ventilation for development of pulmonary interstitial emphysema. After nine days, he still required high settings with development of early chronic lung changes in the form of atelectasis. Therefore, he was started on a course of dexamethasone following the DART study protocol (Dexamethasone: A Randomized Trial). However, after six days (cumulative dose of 0.75 mg/kg/day) he developed polyuria (7.4 ml/kg/h) with increased serum sodium (150 mmol/L) and osmolality (348 mmol/L). He lost 85 grams of his weight in 24 hours, which represented a 9.8 %weight loss. The findings were suggestive of DI and given there were no apparent causes other than dexamethasone, it was discontinued. Over the following 48 hours, polyuria and hypernatremia gradually resolved, reaching 3.5 ml/kg/h, and 140 mmol/L respectively. CONCLUSION: The use of dexamethasone is not an uncommon practice in tertiary care neonatal units. To our knowledge, our case is the first report of neonatal DI secondary to the use of dexamethasone. We recommend closely monitoring urine output and serum electrolytes in preterm infants receiving dexamethasone.

Early inotropes use is associated with higher risk of death and/or severe brain injury in extremely premature infants.

Introduction: Extremely premature infants are susceptible to fluctuations in cerebral blood flow due to immaturity of cerebral autoregulation. Inotropes may cause rapid changes to systemic blood pressure and consequently cerebral blood flow, especially within the first 72 hours of life. This period is recognized to carry the greatest risk for cerebral hemorrhage. This study evaluates the incidence of death and/or severe brain injury in extremely preterm infants treated with inotropes in the first 72 hours of life.Methods: Prospective cohort study of infants born ≤29+0 weeks gestational age (GA) between January 2013 and December 2016. Severe brain injury was defined based on head ultrasound as presence of: grade III or IV intraventricular hemorrhage (IVH), moderate to severe post-hemorrhagic ventricular dilatation (PHVD), or cystic periventricular leukomalacia (cPVL). The association between inotrope use and death and/or brain injury was explored via logistic regression controlling for predefined confounding risk factors.Results: Of 497 eligible infants, 97 (19.5%) received inotropes during the first 72 hours. GA at birth, birth weight (BW), and 5-minute Apgar scores were lower among infants who received early inotropes compared to those not treated with inotropes. A stepwise logistic regression of the predefined confounding factors showed GA, exposure for antenatal steroids, and admission hypothermia to be significant confounding factors. Adjusting for those factors, early use of inotropes was associated with increased risk of death and/or severe brain injury (AOR 4.5; 95%CI: 2.4-8.5), severe brain injury (AOR 4.2; 95% CI: 1.9-8.9), and IVH of any grade (AOR 2.9; 95%CI: 1.7-4.9).Conclusion: Early inotropes use was associated with higher risk of death and/or severe brain injury. Strict indications and strategies for minimizing inotrope use while preventing hypotension should be implemented in the early postnatal care of infants at risk for severe brain injury.

Simulation-Based Structured Education Supports Focused Neonatal Cranial Ultrasound Training.

OBJECTIVES: Brain injury in preterm neonates may cause clinical deterioration and requires timeous bedside diagnosis. Teaching cranial ultrasound (US) skills using fragile preterm neonates is challenging. The purpose of this study was to test the effectiveness and feasibility of using task-trainer computer-based simulators and US-suitable cranial phantoms in combination with teaching sessions in teaching novices to perform focused cranial US evaluations for identifying substantial intraventricular hemorrhage. METHODS: This was a prospective interventional educational study targeting participants with no prior skills in neonatal cranial US. Participants attended a 2-day training workshop, with didactic and hands-on interactive sessions using computer-based and 3-dimensional printed phantom simulators. Participants then performed a cranial US scan on a healthy neonate to assess the diagnostic quality of the images acquired. Individual precourse and postcourse knowledge tests were compared. To test recall, participants also submitted US images acquired on neonates within 3 and 6 months of attending the course. RESULTS: Forty-five participants completed the training modules. Mean knowledge scores increased significantly (in brain anatomy, brain physiology, intracranial disorders, and US physics domains). Thirty-eight cranial US scans were acquired during the course, 22 within 3 months after completion, and 34 within 6 months after completion. Thirty-two (84%) of the initial 38 case images, 17 (77%) of 22 images submitted within 3 months, and 32 (94%) of 34 images submitted within 6 months after course completion were of diagnostic quality. CONCLUSIONS: A structured training module with didactic and hand-on training sessions using simulators and phantoms is feasible and supports training of clinicians to perform focused cranial US examinations.

Intraventricular Hemorrhage: Risk Factors and Association With Patent Ductus Arteriosus Treatment in Extremely Preterm Neonates.

Objectives: To assess maternal and neonatal risk factors for intraventricular hemorrhage (IVH). To examine the association of patent ductus arteriosus (PDA) and its treatment, with IVH and its severity. Study design: In this retrospective cohort study, we included preterm neonates born at <29 weeks, admitted to a tertiary level III Neonatal Intensive Care Unit in Calgary, Canada, between 2013 and 2016, who had a head ultrasound in the first 7 days of life. A subset analysis included neonates who also had cardiac ultrasound in the first 3 days of life. Results: Of the 495 neonates, 121 (24.4%) had IVH of any grade and 48 (9.7%) had severe IVH. Identified risk factors were small birth gestation and weight, lack of antenatal corticosteroids, maternal chorioamnionitis, Apgar score <5 at 5 min, umbilical cord pH < 7, respiratory distress syndrome, early onset sepsis, hypercapnia, pCO2 fluctuations, prolonged intubation, inhaled nitric oxide, inotropes or normal saline boluses, metabolic derangements, opioids infusions, and bicarbonate/THAM therapy. In a primary analysis of the total cohort, when the decision to treat a PDA was used as a surrogate marker of its clinical significance, a PDA requiring treatment was associated with a higher risk of IVH. There was no significant difference in the incidence of IVH between neonates with early treatment of a clinically significant PDA compared to late, however early indomethacin treatment was associated with reduced severity of IVH. In the subset analysis, the presence of a hemodynamically significant PDA (hs-PDA) was not associated with a higher probability of IVH. Of those with severe IVH, 18 (55%) had a hs-PDA; this is clinically but not statistically significant. Conclusions: Identified risk factors should be the target of IVH reduction bundles. Early indomethacin treatment for a clinically significant PDA may reduce IVH severity.

Neonatal Transport Clinician Performed Ultrasound Evaluation of Cardiac Function.

BACKGROUND: Limited point-of-care ultrasound skills for ultrasound-naïve neonatal transport clinicians could enhance clinical evaluation and decision making. Teaching Respiratory Therapists and Nurses to assess cardiac filling and contractility may be feasible. METHODS: Prospective educational study using educational materials, didactic theoretical, and hands-on practical sessions, followed by assessment of practical and theoretical skills. RESULTS: A total of 18 participants completed the study meeting the predefined standard, proving feasibility. Nine (50%) participants had ≤ 10 years of NICU experience. The mean time required for complete training was 8.6 ±â€¯2.1 hours. Time was spent on average on 269 ±â€¯104 minutes for hands-on practice, 171 ±â€¯96 minutes on didactic training, and 76 ±â€¯16 minutes on testing sessions. The median number of hands-on sessions per participant was 5 [Interquartile range (IQR) 5, 7]. The median number of infants required to complete training was 9 infants (IQR 7, 11). RRTs required less time than RNs. Evaluations and feedback from participants on the training program was positive. CONCLUSION: Neonatal RNs and RTs can be trained to perform focused cardiac ultrasound examinations with average time of 8.6 hours. This skill could enhance clinical care on neonatal transport with appropriate interventions to manage suspected hypotension or shock.

Prospective study of pulmonary hypertension in preterm infants with bronchopulmonary dysplasia.

OBJECTIVE: To evaluate the prevalence, risk factors, and optimal timing of echocardiogram for pulmonary hypertension (PH) in infants with bronchopulmonary dysplasia (BPD). DESIGN: In this prospective study, infants with gestational age (GA) <30 weeks admitted to a tertiary NICU between July 2015 and June 2017 who required positive pressure ventilation or oxygen therapy at ≥28 days of life were evaluated with serial echocardiograms at study enrollment (4-6 weeks of age), 32 weeks (only for ≤25 weeks), 36, and 40 weeks post-menstrual age (PMA) for PH. RESULTS: Of 126 infants (mean birth weight 858 ± 221 g; mean GA 26.1 ± 1.6 wks), 48 (38%) developed PH at any time during their hospital stay. The first study echocardiogram was performed at a median age of 31 weeks PMA. The prevalence of PH was 36/126 (28.5%) at enrollment, at 6/30 (20%) at 32 weeks, 24/111 (21.6%) at 36 weeks, and 10/59 (17%) at 40 weeks. No new cases of PH were identified at 40 weeks. At 36 weeks, none of the infants with mild BPD had PH, whereas 20% of moderate and 32% of severe BPD infants had PH. After controlling for confounding variables severe BPD (OR 3.31, 95%CI 1.12, 9.74), and ventilator associated pneumonia (VAP) (OR 17.9, 95%CI 3.9, 82.11) remained independent risk factors for BPD-associated PH. CONCLUSION: Echocardiographic screening for PH can be safely restricted to infants with moderate or severe BPD at 36 weeks PMA. We identified VAP as an independent risk factor for PH.

Immunological Emergency in Neonate: Case Report and Role of Early Screening.

Healthy looking newborns may have severe combined immunodeficiency (SCID), and neonatologists frequently are the first physicians to encounter these patients. Physicians usually have a high index of suspicion for this condition in presence of certain risk factors (unexplained infants' deaths, consanguinity); however, >80% of infants with SCID have no positive family history. A timely diagnosis of this condition is crucial in decreasing both mortality and morbidity. The only way to detect SCID prior to the onset of infections is newborn screening (NBS). In term infants, NBS has 99.99% sensitivity for SCID, with no false negatives. In preterm infants, screening is less accurate due to a lack of standard T cell receptor excision circle (TREC) values in this age group. We report a case of SCID in term infants born to consanguineous parents who were presented with clinical and laboratory findings of erythroderma, severe infection, failure to thrive, eosinophilia, and elevated immunoglobulin E (IgE) together with immunodeficiency. A timely diagnosis was followed by successful hematopoietic stem cell transplantation (HSCT) therapy.

An Unusual Neonatal Presentation of Scimitar Syndrome.

Scimitar syndrome is characterized by partial or total anomalous pulmonary venous return from the right lung along with pulmonary hypoplasia. We present a case of a 37 weeks' gestation male infant with antenatal ultrasound findings of suspected partial anomalous pulmonary venous return (PAPVR) and coarctation of the aorta. The newborn presented with respiratory distress, a chest X-ray and chest computed tomography (CT) angiogram confirmed the diagnosis of scimitar syndrome. The combination of scimitar syndrome with aortic coarctation is extremely rare with only a few cases previously reported.

Aplasia cutis congenita as a result of interstitial laser therapy for fetal reduction in monochorionic twins: Conservative approach and outcome.

Monochorionic (MC) twin pregnancies are known to carry a high risk of twin-to-twin transfusion syndrome (TTTS) that could lead to miscarriage and perinatal death. Demise of one fetus is frequently associated with co-fetal death. Fetal reduction by interstitial laser therapy is an effective procedure to prevent this outcome, but it may be associated with significant risks for both mother and fetus. Aplasia Cutis Congenita (ACC) may occur in up to 8% cases of fetal reduction by laser therapy. We report ACC in a preterm infant, a survivor of interstitial laser therapy for fetal reduction in MC pregnancy. Despite of massive skin lesions we were able to manage this case conservatively. Follow-up at 5 years of age revealed minimal scarring and no motor function limitations.

Persistent Left Superior Vena Cava.

Persistent left superior vena cava (PLSVC) is a common cardiac anomaly associated with congenital heart diseases. A diagnosis of PLSVC usually warrants a detailed fetal echocardiography. Lesser known associations are the extra cardiac anomalies notably the upper airway and the gastrointestinal tract anomalies. We highlight here the importance of detailed fetal assessment for extra cardiac anomalies in addition to fetal echocardiography in fetuses diagnosed with PLSVC. We hereby present a preterm infant who presented with a triad of PLSVC, laryngeal atresia, and esophageal atresia.

Congenital tuberculosis in an extremely preterm infant conceived after in vitro fertilization: case report.

BACKGROUND: Congenital tuberculosis is a rare manifestation of tuberculosis. The diagnosis is often delayed, especially in preterm neonates because of the non-specific clinical presentation and the lack of awareness of maternal disease prior to pregnancy. CASE PRESENTATION: We report a case of congenital tuberculosis in an infant born at 24 weeks of gestation to a mother who presented with uncontrolled seizures during preterm labor. Maternal diagnosis was initially made by placental pathology, and later confirmed by isolation of Mycobacterium tuberculosis in urine, gastric aspirates and sputum. Full screening was performed on the newborn infant, and both mother and infant were successfully treated for tuberculosis with a four drug regimen. CONCLUSION: Pregnancy can exacerbate latent tuberculosis and women originating from endemic areas are especially susceptible. The best way to prevent congenital tuberculosis is to have a high index of suspicion and identify and treat tuberculosis in pregnant women.

Chorioamnionitis at birth does not increase the risk of neurodevelopmental disability in premature infants with bronchopulmonary dysplasia.

AIM: To compare preterm infants with no bronchopulmonary dysplasia (BPD), BPD with chorioamnionitis (BPDC) and BPD with no chorioamnionitis (BPDNC) for the association with neurodevelopmental disability (NDD) at three years corrected age. METHODS: Demographic and outcome data of infants with birthweight (BW) ≤1250 g born during two epochs (1995-2000 and 2002-2007 with an interim washout period of one year) were compared on the basis of whether they had BPD, chorioamnionitis or both. Any NDD was considered present if there was either mild-severe cerebral palsy (CP), cognitive delay, visual or hearing impairment. Logistic regression modelling was performed. RESULTS: Infants (n = 1009) were included into three groups - no BPD (n = 442), BPDNC (n = 437) and BPDC (n = 130). The adjusted odds ratio (aOR) of any NDD at three years in infants with BPDC versus BPDNC was 1.37; 95% CI 0.85-2.20, and for CP the aOR was 1.66; 95% CI 0.76-3.62. Infants in the BPDC group were of lower BW, gestational age and had longer length of hospital stay, duration of mechanical ventilation, more blood transfusions and sepsis compared to BPDNC and no BPD groups (all p < 0.001). CONCLUSION: Chorioamnionitis was not associated with any increase in the odds of NDD in infants with BPD at three years corrected age.

Comparison of Presentation, Course, and Outcome of Congenital and Acquired Cytomegalovirus Infection in Twins.

Background Cytomegalovirus (CMV) is one of the most common causes of serious viral intrauterine infections. It is universally distributed among the human population with an average incidence of 0.15 to 2%. Indeed, at least half of the women in the reproductive age have evidence of prior CMV infection. Epidemiology and Pathogenicity However, it is not a usual practice to screen asymptomatic pregnant woman or neonates for CMV. Even if a mother developed a primary CMV infection during pregnancy, up to 90% of the newborns with congenital CMV will be asymptomatic at the time of birth. Only 5 to 7% of the infected babies will be acutely symptomatic, and the typical clinical presentation includes intrauterine growth restriction, microcephaly, various cutaneous manifestations (including petechiae and purpura), hematological abnormalities (particularly resistant thrombocytopenia), hepatosplenomegaly, chorioretinitis, hepatitis, etc. In contrast, acquired CMV infection is extremely unlikely to cause any serious sequelae for the infant. Cases We present a case of congenital and acquired CMV infection in twins with a focus of dissimilarity in presentation, clinical course, and outcome.

Neonatal hypercalcemia secondary to subcutaneous fat necrosis successfully treated with pamidronate: a case series and literature review.

Subcutaneous fat necrosis (SCFN) is a noninfectious panniculitis that occurs in term infants who experience significant distress in the 1st weeks of life, including hypoxic ischemic encephalopathy (HIE). Since the introduction of therapeutic hypothermia for HIE, there have been a few published case reports of SCFN, following this modality of treatment. Although, most cases of SCFN resolve spontaneously, SCFN may be associated with hypercalcemia, which may sometimes reach dangerous levels. Approaches used for the management of this potentially life-threatening condition, include hyperhydration, calciuric diuretics, corticosteroids, and in more resistant cases pamidronate, a bisphosphonate. We report our experience on the use of pamidronate in two cases of severe hypercalcemia associated with SCFN following therapeutic hypothermia for HIE. We believe that with increasing use of therapeutic hypothermia for HIE, clinicians are likely to encounter this condition more frequently.