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Copyright © Ordem dos Médicos 2021, Introduction: Sudden and unexpected postnatal collapse is a rare event with potentially dramatic consequences. Intervention approaches are limited, but hypothermia has been considered after postnatal collapse. The aim of this study was to analyse sudden and unexpected postnatal collapse cases that underwent therapeutic hypothermia in the five Portuguese hypothermia centres. Material and Methods: In this multicentre, retrospective and descriptive study, clinical, ultrasonography, amplitude-integrated electroencephalography and brain magnetic resonance findings of newborns with postnatal collapse that underwent therapeutic hypothermia are reported (2010 - 2018). Statistical analysis was performed by using IBM SPSS Statistics version 21. Results: Twenty-two cases of sudden and unexpected postnatal collapse were referred for therapeutic hypothermia (82% outborn), all ≥ 36 weeks, with Apgar 5´ ≥ 8. Collapse occurred during the first two hours in 73% (all < 24 hours), 50% during skin-to-skin care, 55% related to feeding and 23% during co-bedding. Moderate-severe encephalopathy and severe acidosis were observed (median: Thompson score 16, pH 6.90, base deficit 22 mmol/L). Amplitude-integrated electroencephalogram was abnormal in 95% and magnetic resonance imaging showed severe brain injury in 46%. The mortality rate was 50%. A possible cause was identified in 27%. Discussion: The incidence rate of 2.7 sudden cases of postnatal collapse per 100 000 births, is possibly under-estimated. All infants suffered the collapse in the first day, mostly within the first two hours, as reported before. Possible causes were identified in less than a third of cases, but multiple predisposing conditions were identified, suggesting that prevention may be possible. Newborn positioning and skin-to-skin care have been the most discussed practices. A significant proportion of infants had poor outcomes. Lower Thompson score, electroencephalogram amplitude normalization and normal magnetic resonance imaging seemed to indicate better outcomes. Although conclusive trials on therapeutic hypothermia after postnatal collapse are not available, its use has been considered individually. No severe adverse effects directly related to hypothermia were registered in this study, but the results do not allow drawing meaningful conclusions. Conclusion: In our national sample of 22 infants who suffered sudden and unexpected postnatal collapse and underwent therapeutic hypothermia, a significant proportion had poor outcomes. Absolute conclusions from our experience with hypothermia in postnatal collapse cannot be drawn, but systematic reporting of cases and long-term clinical evaluation would facilitate understanding of the real benefits of hypothermia. As this procedure has not been validated with clinical trials for this indication, its use should be considered on a case-by-case approach. The potentially avoidable nature of unexpected postnatal collapse is evident from its association with certain behaviours and risk factors. Surveillance practices during the first hours should be implemented, whilst the benefits of breastfeeding and skin-to-skin care should continue to be widely promoted., Introdução: O colapso pós-natal súbito inesperado, apesar de raro, condiciona potenciais consequências dramáticas. As intervenções terapêuticas são limitadas, mas a hipotermia induzida tem sido considerada após estes eventos. O objetivo deste estudo foi analisar os casos de colapso pós-natal súbito inesperado submetidos a hipotermia induzida nos cinco centros portugueses que a realizam. Material e Métodos: Estudo descritivo retrospetivo multicêntrico dos recém-nascidos submetidos a hipotermia induzida após colapso pós-natal entre 2010 e 2018. Foram analisadas as variáveis clínicas, a monitorização por eletroencefalograma de amplitude integrada e imagem por ultrassonografia e a ressonância magnética cerebral. A análise estatística foi efetuada com apoio do IBM SPSS Statistics version 21. Resultados: Foram submetidos a hipotermia terapêutica por colapso súbito 22 recém-nascidos, 82% outborn, todos com 36 ou mais semanas de gestação e Apgar 5´ ≥ 8. A situação ocorreu nas primeiras duas horas de vida em 73% (todos com menos de 24 horas de vida), 50% no contacto pele-a-pele, 55% associados à amamentação e 23% durante partilha de cama. Os recém-nascidos observados apresentaram encefalopatia moderada a grave e acidose grave (mediana: Thompson 16, pH 6,90, défice bases 22 mmol/L). Entre os recém-nascidos, 95% registaram alteração no eletroencefalograma e 46% padrões graves de ressonância cerebral. A taxa de mortalidade foi de 50%. Identificaram-se possíveis causas em 27%. Discussão: Estimou-se uma incidência de 2,7 casos de colapso pós-natal súbito inesperado por cada 100 000 nascimentos, um valor possivelmente subestimado. O colapso ocorreu no primeiro dia em todas as crianças, a maioria nas primeiras duas horas, tal como descrito em publicações anteriores. Identificaram-se possíveis causas em menos de um terço dos casos, mas múltiplas condições predisponentes foram referidas, o que sugere a possibilidade de adoção de medidas preventivas. O posicionamento do recém-nascido e o contacto pele-a-pele têm sido as práticas mais discutidas. Uma proporção significativa das crianças teve uma evolução desfavorável. Um desfecho mais positivo parece ter ocorrido nos casos em que se verificaram valores inferiores na escala de Thompson, normalização do eletroencefalograma de amplitude integrada e ressonância magnética normal. Embora não estejam disponíveis ensaios conclusivos sobre a utilização da hipotermia terapêutica após o colapso pós-natal, o seu uso tem sido considerado individualmente. Nesta revisão não foram observados efeitos adversos diretamente relacionados com o procedimento, mas os resultados não permitem obter conclusões significativas. Conclusão: Na nossa amostra nacional de 22 crianças que sofreram colapso súbito pós-natal e submetidas a hipotermia terapêutica, uma proporção significativa teve uma evolução desfavorável. A nossa experiência e a raridade da entidade clínica não permitem delinear conclusões precisas sobre a aplicação da hipotermia induzida no colapso pós-natal súbito inesperado, pelo que se considera essencial a prevenção. O benefício desta terapêutica poderá ser clarificado através do registo sistemático dos casos e do seguimento a longo prazo das crianças. Embora não existam ensaios clínicos que permitam a sua validação após estes eventos, a hipotermia induzida deve ser uma opção a considerar individualmente. A associação do colapso pós-natal com determinados comportamentos e fatores de risco evidenciam a sua potencial prevenção. Devem ser implementadas estratégias de monitorização nas primeiras horas de vida que permitam simultaneamente a contínua promoção da amamentação e do contacto pele-a-pele.

Bronchopulmonary dysplasia (BPD) is the most prevalent chronic lung disease in infants and presents as a consequence of preterm birth. Due to the lack of effective preventive and treatment strategies, BPD currently represents a major therapeutic challenge that requires continued research efforts at the basic, translational, and clinical levels. However, not all very low birth weight premature babies develop BPD, which suggests that in addition to known gestational age and intrauterine and extrauterine risk factors, other unknown factors must be involved in this disease's development. One of the main goals in BPD research is the early prediction of very low birth weight infants who are at risk of developing BPD in order to initiate the adequate preventive strategies. Other benefits of determining the risk of BPD include providing prognostic information and stratifying infants for clinical trial enrollment. In this article, we describe new opportunities to address BPD's complex pathophysiology by identifying prognostic biomarkers and develop novel, complex in vitro human lung models in order to develop effective therapies. These therapies for protecting the immature lung from injury can be developed by taking advantage of recent scientific progress in -omics, 3D organoids, and regenerative medicine.

NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, Vol 25 (2016): Supplement II: XVIII Reunião Anual de Pediatria do CMIN

Twin anemia-polycythemia sequence (TAPS), which was first described in 2007, is an atypical chronic form of twin-twin transfusion syndrome (TTTS). It presents as a large intertwin hemoglobin difference, with one twin developing anemia and the other polycythemia, without the traditional “polyhydramnios-oligohydramnios sequence” that is usually seen in TTTS. So far, ideal management of TAPS is not clear. We report here the case of a monochorionic biamniotic gestation, complicated by TAPS, detected at 30 weeks’ gestation that led to an emergent cesarean section. The recipient twin had an uneventful evolution. The donor twin was severely anemic, with a hemoglobin level of 2.5 g/dL that required immediate blood transfusion and intensive care management measures. Clinical evolution was favorable with good outcome in both twins. This case report intends to emphasize the association between hydrops fetalis and severe anemia, as well as the relevance of antenatal Doppler ultrasound investigations and the importance of an accurate management decision.

There is little data on the association between Human Leucocyte Antigen (HLA) alleles and Bronchopulmonary Dysplasia (BPD) of the preterm newborn. Our aim was to assess associations between HLA alleles and BPD susceptibility. We studied 156 preterm neonates (82 M/74 F) < 32 weeks gestational age, alive at 36 weeks gestational age. Detailed clinical data were collected. HLA typing was performed by PCR-SSO. HLA allele frequencies where determined by direct counting for BPD and no-BPD groups. Comparison between BPD and no BPD groups was performed usingt-test, χ2test or Fisher exact test and logistic regression as appropriate. Relative risks (RR) and their 95% confidence intervals (95% CI) were also calculated as association measures. We diagnosed 56 (35.9%) neonates with mild BPD and 27 (17%) with moderate/severe BPD. We found a significant association between HLA-DRB1*01 and mild BPD (OR=3.48[1.23–10.2]). The alleles HLA-A*24, -A*68, -B*51,-Cw*07, -Cw*14, -Cw*15 and -DRB1*01 presented a significant association with moderate/severe BPD. When adjusted to gestational age and birth weight HLA-A*68 (OR=5.41[1.46; 20.05]), -B*51 (OR=3.09[1.11; 8.63]) and -Cw*14 (OR=4.94[1.15; 21.25]) were significantly associated with moderate/severe BPD. Conclusion – Our findings suggest an association between HLA-A*68, -B*51 and -C*14 and BPD susceptibility, and that an autoimmune mechanism may be implicated in the pathogenesis of the disease.

Resumo: A displasia broncopulmonar (DBP) é multifactorial. Prematuridade, doença da membrana hialina, oxigénio, ventilação mecânica, inflamação e canal arterial são alguns dos factores na sua patogénese Objectivo: Avaliar a prevalência da DBP e seus factores de risco em cinco unidades portuguesas, para implementar boas práticas no tratamento deste doentes. Material e métodos: 256 recém-nascidos (RN) com idade gestacional (IG)  0,30 (85 vs 5 dias, respectivamente nos doentes com e sem DBP, p  0.30 (85 vs 5 days, respectively in BPD and no BPD patients, pÂ

With the advent of surfactant, prenatal corticosteroids (PNC) and advances in technology, the survival rate of extremely low birth weight (ELBW) infants has improved dramatically. Rates of bronchopulmonary dysplasia (BPD) vary widely among neonatal intensive care units (NICUs) and many studies using multiple interventions have shown some improvement in BPD rates. Implementing potentially better practices to reduce BPD has been an effort made over the last few decades. Aim: To compare five Portuguese NICUs in terms of clinical practices in very low birth weight (VLBW) infants, in order to develop better practices to prevent BPD. Patients and methods: 256 preterm neonates, gestational age (GA)Â

Background: The clinical spectrum of congenital cystic adenomatoid malformation of the lung (CCAML) ranges from asymptomatic lesions to neonatal respiratory distress and hydrops fetalis. Aim: To review our experience with CCAML, emphasising natural history, management and outcome. Material and methods: A retrospective chart review of all CCAML-diagnosed neonates admitted to the neonatal intensive care units of five tertiary medical centres in the north of Portugal between 1996 and 2005. Results: Fifteen neonates with CCAML were identified, 9F/6M, birth weight 3100 g (645â3975), gestational age 38 weeks (24â40). The incidence of CCAML was 1: 9300 births. There were 11 (73%) cases of cystic lung lesion diagnosed during pregnancy, median age 22 weeks (19â30). The lesion was right sided in six (40%) and left sided in nine (60%) cases. In utero spontaneous regression of the lesion was observed in two cases. Antenatal intervention (pleurocentesis and thoracoamniotic shunting) was performed in one foetus with impending hydrops. Normal lung radiographic findings at birth were present in five cases, with an abnormal CT scan. Three (20%) neonates became symptomatic during the neonatal period (respiratory distress) and one (70%) after the neonatal period (spontaneous pneumothorax). Two neonates (13%) died. Six (40%) patients underwent thoracotomy and appropriate excisional surgery. Histological examination showed definitive features of CCAML (Stocker classification: type I = 4; type II = 1; type III = 2). Eight (53%) patients remain asymptomatic and did not undergo surgery. Conclusions: Antenatally diagnosed CCAML has a good prognosis in the absence of severe foetal distress; normal radiographic findings at birth do not rule out CCAML; treatment of asymptomatic CCAML is controversial; surgery may be advocated because of its low morbidity and the prevention of late complications such as malignancy. Resumo: Introdução: O espectro clínico da malformação adenomatóide cística pulmonar congénita (MACPC) varia desde lesões assintomáticas e dificuldade respiratória no recém-nascido a hidrópsia fetal. Objectivos: Avaliação da casuística de MACPC, realçando a história natural, tratamento e evolução. Material e métodos: Análise retrospectiva dos processos clínicos de todos os recém-nascidos com o diagnóstico de MACPC, admitidos nas unidades de cui-dados intensivos neonatais de cinco centros terciários do Norte de Portugal, entre 1996 e 2005. Resultados: Foram identificados 15 recém-nascidos, 9F/6M, peso ao nascimento 3100 g (645â3975), idade gestacional de 38 semanas (24â40). A incidência de MACPC foi de 1:9300 nascimentos. Onze (73%) recém-nascidos apresentaram diagnóstico pré-natal de lesão pulmonar cística pelas 22 semanas (19â30). Esta ocorreu no hemitórax direito em seis (40%) casos e no lado esquerdo em 9 (60%). Foi documentada regressão in utero da lesão em dois casos. Foi necessária intervenção ante-natal (pleurocentese e colocação de derivação toraco-amniótica) num feto com hidrópsia fetal. Ao nascimento, cinco recém-nascidos apresentaram radiografia de tórax dentro da normalidade, sendo a tomografia axial computorizada diagnóstica da lesão. Três (20%) recém-nascidos tornaram-se sintomáticos durante o período neonatal (dificuldade respiratória) e um (7%) após o período neonatal (pneumotórax espontâneo). Dois (13%) faleceram. Seis (40%) doentes foram submetidos a toracotomia e exérese da lesão. O estudo anatomopatológico demonstrou achados definitivos de MACPC (classificação de Stoker: tipo I = 4; tipo II = 1; tipo III = 2). Oito (53%) crianças mantiveram-se assintomáticas e permanecem em vigilância clínica. Conclusões: A MACPC com diagnóstico pré-natal tem bom prognóstico na ausência de sofrimento fetal; uma radiografia de tórax sem alterações ao nascimento não exclui MACPC; o tratamento da lesão assintomática é controverso; a cirurgia está indicada devido à baixa morbilidade e possibilidade de prevenção de complicações tardias, como a degenerescência maligna. Key-words: Congenital, cystic adenomatoid malformation, Palavras-chave: Congénito, alformação adenomatóide ística

Resumo: Introdução: O espectro clínico da malformação adenomatóide cística pulmonar congénita (MACPC) va-ria desde lesões assintomáticas e dificuldade respiratória no recém-nascido a hidrópsia fetal.Objectivos: Avaliação da casuística de MACPC, real-çando a história natural, tratamento e evolução.Material e métodos: Análise retrospectiva dos processos clínicos de todos os recém-nascidos com o diagnóstico de MACPC, admitidos nas unidades de cui-dados intensivos neonatais de cinco centros terciários do Norte de Portugal, entre 1996 e 2005.Resultados: Foram identificados 15 recém-nascidos, 9 F/6 M, peso ao nascimento 3100 g (645-3975), idade gestacional de 38 semanas (24-40). A incidên-cia de MACPC foi de 1:9300 nascimentos. Onze (73%) recém-nascidos apresentaram diagnóstico pré-natal de lesão pulmonar cística pelas 22 semanas (19-30). Esta ocorreu no hemitórax direito em seis (40%) casos e no lado esquerdo em 9 (60%). Foi documentada regressão in utero da lesão em dois casos. Foi necessária intervenção ante-natal (pleu-rocentese e colocação de derivação toraco-amnió-tica) num feto com hidrópsia fetal. Ao nascimento, cinco recém-nascidos apresentaram radiografia de tórax dentro da normalidade, sendo a tomografia axial computorizada diagnóstica da lesão. Três (20%) recém-nascidos tornaram-se sintomáticos durante o período neonatal (dificuldade respiratória) e um (7%) após o período neonatal (pneumotórax espon-tâneo). Dois (13%) faleceram. Seis (40%) doentes foram submetidos a toracotomia e exérese da lesão. O estudo anatomopatológico demonstrou acha-dos definitivos de MACPC (classificação de Stoker: tipo I=4; tipo II=1; tipo III=2). Oito (53%) crianças mantiveram-se assintomáticas e permane-cem em vigilância clínica.Conclusões: A MACPC com diagnóstico pré-natal tem bom prognóstico na ausência de sofrimento fetal; uma radiografia de tórax sem alterações ao nascimento não exclui MACPC; o tratamento da lesão assintomática é controverso; a cirurgia está indicada devido à baixa morbilidade e possibilidade de preven-ção de complicações tardias, como a degenerescência maligna.Rev Port Pneumol 2007; XIII (4): 511-523 Abstract: Background: The clinical spectrum of congenital cystic adenomatoid malformation of the lung (CCAML) ranges from asymptomatic lesions to neonatal respiratory distress and hydrops fetalis.Aim: To review our experience with CCAML, emphasising natural history, management and out-come.Material and methods: A retrospective chart review of all CCAML-diagnosed neonates admitted to the neonatal intensive care units of five tertiary medical centres in the north of Portugal between 1996 and 2005.Results: Fifteen neonates with CCAML were identified, 9 F/6 M, birth weight 3100 g (645-3975), gestational age 38 weeks (24-40). The incidence of CCAML was 1: 9300 births. There were 11 (73%) cases of cystic lung lesion diagnosed during pregnancy, median age 22 weeks (19-30). The lesion was right sided in six (40%) and left sided in nine (60%) cases. In utero spontaneous regression of the lesion was observed in two cases. Antenatal intervention (pleurocentesis and thoracoamniotic shunting) was performed in one foetus with impending hydrops. Normal lung radiographic findings at birth were present in five cases, with an abnormal CT scan. Three (20%) neonates became symptomatic during the neonatal period (respiratory distress) and one (70%) after the neonatal period (spontaneous pneu-mothorax). Two neonates (13%) died. Six (40%) patients underwent thoracotomy and appropriate excisional surgery. Histological examination showed definitive features of CCAML (Stocker classification: type I=4; type II=1; type III=2). Eight (53%) patients remain asymptomatic and did not undergo surgery.Conclusions: Antenatally diagnosed CCAML has a good prognosis in the absence of severe foetal distress; normal radiographic findings at birth do not rule out CCAML; treatment of asymptomatic CCAML is controversial; surgery may be advocated because of its low morbidity and the prevention of late complications such as malignancy.Rev Port Pneumol 2007; XIII (4): 495-523 Palavras-chave: Congénito, malformação adenomatóide cística, Key-words: Congenital, cystic adenomatoid malformation

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding.

Congenital diarrhea comprises a broad range of pathologies and often requires a thor- ough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. MVID was diagnosed by recognition of profuse secretory diarrhea after an exhaustive etiological investigation, confirmed by DNA analysis.

Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly. Progressive multiple system organ involvement and worsening of hypertrophic cardiomyopathy occurred. Metabolic study revealed a CDG disturbance, which was confirmed by genetic study. The following mutations were identified: c.193G>T; p.D65Y and c.470T>C; p.F157S. Clinical deterioration was inevitable with multisystemic failure and death. CDG represents a challenge for physicians due to multiple organ involvement, and heterogeneous clinical manifestations. The neonatal form is usually associated with the worst prognosis.

Aim To assess the association between the human leukocyte antigen system and retinopathy of prematurity. Methods Neonates of

To identify variables associated with early nasal continuous positive airway pressure (ENCPAP) failure in preterm neonates less than 30 weeks gestational age.Multicenter prospective study including 131 preterm newborns, over a period of 2 years. Patients and respiratory variables were assessed using univariate analysis.Variables associated with ENCPAP failure were: the need of resuscitation with a FiO(2)0.30; a CPAP pressure of 6.4±1.2 cm H(2)O; the need of a FiO(2) of 0.40 in the first 4 h of life; male gender maintaining the need of a FiO(2)0.25 in the first 4 h of life; and respiratory distress syndrome with criteria for surfactant administration.The need for oxygen in resuscitation and maintained in first hours of life, male gender, a CPAP pressure over 5 cm H(2)O and surfactant need are predictors of ENCPAP failure in preterm neonates 26 to 30 weeks gestational age.

Respiratory syncytial virus (RSV) lower respiratory tract infection is the most common viral respiratory infection in infants. Several authors have sought to determine which risk factors are the best predictors for severe RSV disease. Our aim was to evaluate if a specific chest radiographic pattern in RSV disease can predict the disease severity. We conducted a multicenter retrospective cohort study in term and preterm neonates with confirmed lower respiratory tract RSV infection, admitted to neonatal intensive care units (NICU) from 2000 to 2010. To determine which factors independently predicted the outcomes, multivariate logistic regression analysis was performed. A total of 259 term and preterm neonates were enrolled. Patients with a consolidation pattern on the chest radiograph at admission (n=101) had greater need for invasive mechanical ventilation (OR: 2.5;P=.015), respiratory support (OR: 2.3;P=.005), supplemental oxygen (OR: 3.0;P=.008), and prolonged stay in the NICU (>7 days) (OR: 1.8;P=.025). Newborns with a consolidation pattern on admission chest radiograph had a more severe disease course, with greater risk of invasive mechanical ventilation, respiratory support, supplemental oxygen, and prolonged hospitalization.

Introduction: Various cytokines have been associated to the occurrence of bronchopulmonary dysplasia (BPD) in preterm neonates.AIM: To establish an association between cord blood cytokines and BPD, so that they could be used, in clinical practice, as early markers of BPD.Material and methods: Preterms less than 30 weeks gestational age, were analysed by ELISA microassay for venous cord blood IL-1β, IL-6, IL-8, TNF-αand IL-10, and compared between the BPD and non-BPD groups.Results: One hundred and fifty neonates completed the study; 31 (21%) small for gestational age (SGA); 16 were deceased before 28 days of life; 36 developed mild BPD and 20 developed moderate/severe BPD. Elevated cord blood IL-8 was associated with death or moderate/severe BPD. SGA patients with moderate/severe BPD presented higher cord blood values of IL-8, lower IL-6 and IL-10 when compared with SGA without moderate/severe BPD; and higher IL-8 levels when compared with patients without moderate/severe BPD.Conclusion: These results support an association between cord blood IL-8 and moderate/severe BPD, independently of the intra-uterine growth; and the association of cord blood IL-6 and IL-10 and moderate/severe BPD in SGA preterm newborns.

A baby girl was delivered by caesarean section at 39 weeks after unsuccessful attempts at vacuum extraction vaginal delivery. Her Apgar scores were 3 and 9 at one and five minutes, respectively. Resuscitation measures included bag mask manual ventilation for bradypnoea, bradycardia, cyanosis, and generalised hypotonia. She recovered promptly and was clinically stable. The mother was a primigravida and the pregnancy was uneventful. The parents were non-consanguineous and declared no medical family history of note. Maternal serology tests were negative, as was Streptococcus group B screening. The antenatal ultrasound scans were normal. Examination of the newborn showed persistent generalised hypotonia, the presence of an expressionless face, bitemporal flattening, tent shaped upper lips, a carp mouth with a high arched palate, an abnormal receding small jaw, and mild respiratory distress (fig 1⇓). Hyporeflexia was also present. Weight, length, and head circumference measures were appropriate for gestational age. At this point it was noticed that the mother had myopathic facial features, and after direct questioning the father confirmed the presence of “muscle disease” in his wife’s family. The newborn was admitted to the neonatal special care unit. Fig 1 Newborn facies ### 1 What is the likely diagnosis? #### Short answer Myotonic dystrophy. #### Long answer Myotonic dystrophy type 1 is one of the most common hereditary neuromuscular diseases.1 2 The phenotypic expression of the disease and its clinical presentation are extremely heterogeneous, and symptoms may go unnoticed or not be taken seriously by carriers, as in the mother of this case. Obstetric problems are common, particularly the need for vacuum extraction (as in this case), …

Liver and biliary tract disorders in the neonate are relatively rare and often complex.To evaluate the incidence of neonatal liver and biliary tract disorders, main causes, clinical presentation, treatment and outcome.Clinical, imagiological, laboratory, pathological and autopsy data concerning all newborns with liver and biliary tract disorder admitted to the neonatal intensive care unit of five tertiary medical centers from the north of Portugal, between 1997 and 2006, were retrospectively analysed.77 neonates (incidence 0.5% - 77/14505 admissions); 44M/33F; gestational age 34 weeks (25-41); preterm 50 (65%); birthweight 1980 g (570-4130),1500 g 29 (38%). Several causes were identified and classified as infectious, metabolic, anatomic/structural, neoplastic, vascular, traumatic, immune, genetic and idiopathic. Clinical signs appeared between days 1 and 61 of life. Jaundice was the most frequent clinical sign (92%). Cholestasis occurred in 67 (87%) patients. Duration of hospital stay was 35 days (5-146); 18 patients (23%) were deceased. Autopsy study was diagnostic in 8 cases (10%).Nosocomial and intrauterine infection were the most common causes of liver and biliary tract disease. Several other rare causes represented an important challenge in diagnosis and treatment, and some were fatal. Awareness of the spectrum of liver and bile duct disorders in the neonate and recognition of the key clinical features are essential to optimize outcome.

The clinical spectrum of congenital cystic adenomatoid malformation of the lung (CCAML) ranges from asymptomatic lesions to neonatal respiratory distress and hydrops fetalis.To review our experience with CCAML, emphasising natural history, management and outcome.A retrospective chart review of all CCAML-diagnosed neonates admitted to the neonatal intensive care units of five tertiary medical centres in the north of Portugal between 1996 and 2005.Fifteen neonates with CCAML were identified, 9F/6M, birth weight 3100 g (645-3975), gestational age 38 weeks (24-40). The incidence of CCAML was 1: 9300 births. There were 11 (73%) cases of cystic lung lesion diagnosed during pregnancy, median age 22 weeks (19-30). The lesion was right sided in six (40%) and left sided in nine (60%) cases. In utero spontaneous regression of the lesion was observed in two cases. Antenatal intervention (pleurocentesis and thoracoamniotic shunting) was performed in one foetus with impending hydrops. Normal lung radiographic findings at birth were present in five cases, with an abnormal CT scan. Three (20%) neonates became symptomatic during the neonatal period (respiratory distress) and one (70%) after the neonatal period (spontaneous pneumothorax). Two neonates (13%) died. Six (40%) patients underwent thoracotomy and appropriate excisional surgery. Histological examination showed definitive features of CCAML (Stocker classification: type I = 4; type II = 1; type III = 2). Eight (53%) patients remain asymptomatic and did not undergo surgery.Antenatally diagnosed CCAML has a good prognosis in the absence of severe foetal distress; normal radiographic findings at birth do not rule out CCAML; treatment of asymptomatic CCAML is controversial; surgery may be advocated because of its low morbidity and the prevention of late complications such as malignancy.

To evaluate the association between histological chorioamnionitis and brain damage (intraventricular hemorrhage and cystic periventricular leukomalacia) in the preterm newborn.This was a retrospective study on neonates born at less than 34 weeks gestational age, and their respective mothers, at three tertiary medical centers in the north of Portugal, from January 2001 to December 2002.The study included 452 newborns (235 male/217 female; birth weight 1440 (515-2620) grams; gestational age 31 (23-33) weeks), 125 from mothers whose placenta showed signs of chorioamnionitis and 327 from mothers without the condition. The association between histological chorioamnionitis and: (1) intraventricular hemorrhage grades I-IV was OR 1.43 (95% CI 0.49-3.94); (2) intraventricular hemorrhage grades III and IV was OR 2.49 (95% CI 1.20-5.11); (3) cystic periventricular leukomalacia was OR 3.02 (95% CI 1.50-6.07). The association, adjusted for birth weight and gestational age, between chorioamnionitis and: (1) intraventricular hemorrhage grades III and IV was OR 0.94 (95% CI 0.39-2.28); (2) cystic periventricular leukomalacia was OR 1.94 (95% CI 1.03-4.61). The association between histological chorioamnionitis with funisitis and/or vasculitis and: (1) intraventricular hemorrhage grades I to IV was OR 1.27 (95% CI 0.52-3.10); (2) cystic periventricular leukomalacia was OR 2.08 (95% CI 0.72-5.98).This study confirms the association between histological chorioamnionitis and cystic periventricular leukomalacia, but was unable to confirm the association between histological chorioamnionitis and intraventricular hemorrhage.

Several studies highlight the association between perinatal infection/inflammation and neonatal morbidity, mainly bronchopulmonary dysplasia and periventricular leukomalacia.To evaluate the role of histological chorioamnionitis on the overall morbidity of preterm newborns.A retrospective study on preterm newborns less than 34 weeks gestational age at birth, and respective mothers, at three tertiary medical centers (Hospital de São João, Maternidade Júlio Dinis and Centro Hospitalar de Vila Nova de Gaia) in the north of Portugal, between January 2001 and December 2002. We evaluated the association between histological chorioamnionitis and the overall neonatal morbidity. The association between histological chorioamnionitis and acute (respiratory distress syndrome) and chronic (bronchopulmonary dysplasia) lung damage was also evaluated in the subgroup of less than 1000 g birthweight preterm neonates.452 [ M 253 / F 217; birthweight 1440 (515-2620) g; gestational age 31 (23-33) weeks] preterm newborns were included. The association between histological chorioamnionitis and the overall neonatal morbidity was: respiratory distress syndrome OR 1.5 (95% CI 0.94-2.31); bronchopulmonary dysplasia OR 2.6 (95% CI 1.16-6.03); patent ductus arteriosus OR 2.5 (95% CI 1.17-5.44); sepsis OR 1.2 (95% CI 0.9-2.13); necrotizing enterocolitis OR 1.4 (95% CI 0.9-1.76); intraventricular hemorrhage grades III-IV OR 2.5 (1.20-5.11); cystic periventricular leukomalacia OR 3.0 (1.5-6.07); retinopathy of prematurity OR 1.4 (95% CI 0.8-1.35). The association adjusted to birthweight and gestational age was: bronchopulmonary dysplasia OR 1.2 (95% CI 0.51-2.95); patent ductus arteriosus OR 0.9 (95% CI 0.4-2.35); intraventricular hemorrhage grades III-IV OR 0.9 (95% CI 0.39-2.28); cystic periventricular leukomalacia OR 2.2 (95% CI 1.03-4.61). The association between histological chorioamnionitis and lung damage in the subgroup of less than 1000 g birthweight preterm neonates was: respiratory distress syndrome OR 0.23 (95% CI 0.01-2.51); bronchopulmonary dysplasia OR 1.61 (95% CI 0.38-6.97).This study confirms the association between histological chorioamnionitis and cystic periventricular leukomalacia of the preterm newborn.

Introduction: Pleural effusions are rare in the neonate and may be associated to several clinical conditions. Only a few series of pleural effusions in the fetus and newborn are described in the literature. Aim: This study was undertaken to determine more accurately the causes and prognostic significance of pleural effusions in a population of high-risk neonates. Materials and methods: A retrospective chart review of 62 neonates admitted to the neonatal intensive care unit of six medical centers in the north of Portugal, between 1997 and 2004, that presented the diagnosis of pleural effusion. Results: 33M/29F newborns; preterms 47 (76%); GA 33 (25–40) wk; BW 1830 (660–4270) g; C-section 39 (63%). Pleural effusions were congenital in 20 (32%) newborns and acquired in 42 (68%). Congenital pleural effusions occurred as fetal hydrops in 11 (18%) patients and as chylothorax in 9 (15%). In four cases of hydrops, the cause was a congenital chylothorax. Congenital chylothorax (n=13) was the most common (65%) congenital pleural effusion in this study. The incidence of congenital chylothorax was 1:8.600 deliveries and male:female ratio was 2:1. Mortality occurred in five newborns due to pulmonary hypoplasia. Traumatic (iatrogenic) were the most frequent (n=31) acquired pleural effusions. These included 8 (13%) cases of hemothorax and 8 (13%) cases of total parenteral nutrition leakage. Pleural effusions after intra-thoracic surgery were mainly (79%) chylothoraces. There were 11 (26%) non-iatrogenic acquired pleural effusions. No mortality was associated with acquired pleural effusions. Conclusions: Congenital pleural effusions usually occur as hydrops or congenital chylothorax. Traumatic (iatrogenic) are the most frequent acquired pleural effusions in a tertiary NICU. Pleural effusions after intra-thoracic surgery are mainly chylothoraces. Non-iatrogenic acquired pleural effusions are associated to several clinical conditions, and mortality is usually associated to the underlying condition.

Background/aim Congenital heart disease (CHD) is the most common congenital disorder in newborns (prevalence ranges from 6 to 13 per 1000 live births). Transversal study of the newborns diagnosed with CHD at Maternidade Julio Dinis between 2012–2013. Methods Patients were identified by searching the hospital’s electronic discharge records of the ICD-9 for each CHD (745.0–747.11). The following data were analysed: gender;gestational age;birth weight;pregnancy and delivery type; need of resuscitation;family history and maternal conditions that increase the risk for CHD; echocardiography reason and source of referral; clinical manifestations; paediatric cardiology agreement on the diagnosis; treatment and follow-up. Results A total of 161 patients were documented, corresponding 24,8% to preterm newborns. The prevalence of echocardiographic findings was 26,8 per 1000 live births. At birth, resuscitation was needed in 20,5% patients. Cardiovascular findings suggestive of CHD were the reason to request echocardiogram in 75,8% cases and prenatal suspicion was responsible for 19,9%. Ventricular septal defect was the most prevalent (53,4%) CHD. Complex heart defects were found in 6,8% patients. A total of 101 patients were referred to paediatric cardiology and the concordance in diagnosis was around 99%. Surgical repair was performed in 5,6% patients. During this 2 years period, mortality related to CHD was 0,67 per 1000 infants (< 1 year age). Conclusion This portuguese CHD study shows a high prevalence of these disorders. Congenital heart defects are common conditions that have significant impact on morbidity, mortality and healthcare costs. A multidisciplinary team able to detect most of them in the neonatal period is crucial to minimise it.