RESUMO
OBJECTIVE: The objective of this article was to evaluate neonates diagnosed systemic thrombosis and their outcomes. METHODS: We retrospectively evaluated data of neonatal systemic thrombosis between January 2011 and December 2016. RESULTS: Among 4376 hospitalized, 30 neonates (0.69%) were diagnosed systemic thrombosis. Their mean birth weight was 2422±1152 g (680 to 4750 g), gestational age was 35±5.4 weeks (25 to 41 wk). There were 25 neonates (83.3%) with venous, 5 patients (16.7%) with arterial thrombosis. The most common sites that thrombi localized were major vessels (n=11) and central nervous system (n=8). Central catheter insertion (76.7%) and prematurity (46.7%) were the most common risk factors. Congenital prothrombotic risk factors included G1691A mutation in factor V Leiden (n=1), mutation in factor XIII (n=1), C677T mutation in methylenetetrahydrofolate reductase (n=6). More than 1 congenital risk factor was identified in 5 patients. The patients were treated with low-molecular weight heparin. The mortality rate was 13.3% (n=4). Two patients required amputation (left foot, left upper extremity). Unilateral renal atrophy (n=1), cerebral palsy (n=2), hemiparesis (n=1) were identified among followed 24 patients. CONCLUSIONS: Critically ill neonates are at risk for thrombosis, and devastating consequences can result. As indwelling catheters and prematurity are important, careful monitorization, early diagnosis and therapy, cautious care of central catheter might reduce the incidence and adverse outcome.
Assuntos
Unidades de Terapia Intensiva Neonatal , Trombose/diagnóstico , Amputação Cirúrgica , Peso ao Nascer , Cateterismo Venoso Central/efeitos adversos , Idade Gestacional , Heparina de Baixo Peso Molecular/uso terapêutico , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Mortalidade , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Trombofilia/genética , Trombose/complicações , Trombose/mortalidade , Trombose/terapiaRESUMO
BACKGROUND: Most breast-fed newborns get the milk they need. However, very rarely milk intake is insufficient mostly as a result of poor breastfeeding techniques. Dramatic weight loss and hypernatremic dehydration may occur. Our aim was to construct charts for weight loss. METHODS: A case-control study was performed. Charts with standard deviation score (SDS) lines for weight loss in the first month were constructed for 2,359 healthy breast-fed term newborns and 271 cases with breastfeeding-associated hypernatremic dehydration with serum sodium level > 149 mEq/L. Day 0 was defined as the day of birth. RESULTS: Many cases with (or who will develop) hypernatremic dehydration (84%; +1 SDS line) fell below the -1 SDS line at day 3, the -2 SDS line at day 4, and the -2.5 SDS line at day 5 in the chart of the healthy breast-fed newborns. Weight loss of cases with permanent residual symptoms was far below the -2.5 SDS. CONCLUSIONS: Already at an early age, weight loss differs between healthy breast-fed newborns and those with hypernatremic dehydration. Charts for weight loss are, therefore, useful tools to detect early, or prevent newborns from developing, breastfeeding-associated hypernatremic dehydration, and also to prevent unnecessary formula supplementing.
Assuntos
Aleitamento Materno/efeitos adversos , Desidratação/diagnóstico , Gráficos de Crescimento , Hipernatremia/diagnóstico , Redução de Peso , Biomarcadores/sangue , Estudos de Casos e Controles , Desidratação/sangue , Desidratação/etiologia , Feminino , Humanos , Hipernatremia/sangue , Hipernatremia/complicações , Fórmulas Infantis , Recém-Nascido , Modelos Lineares , Masculino , Estudos Retrospectivos , Sódio/sangueRESUMO
AIM: Some inborn errors of metabolism induce metabolic encephalopathy through accumulation of neurotoxic metabolites. Rapid elimination of these metabolites by peritoneal or extracorporeal dialysis is crucial to prevent neuronal damage or death. In this retrospective study, we evaluated the outcomes of nine neonates with metabolic crisis treated with peritoneal dialysis. METHOD: Six neonates with hyperammonemic coma (four with organic acidemias, two with urea cycle disorders) and three with leucine accumulation due to maple syrup urine disease (MSUD) were managed with peritoneal dialysis in conjunction with dietary and pharmacological therapy. RESULTS: Three patients with organic acidemia survived. One of the patients was normal; others had moderate and severe neurological impairments. One neonate with organic acidemia and both neonates with urea cycle disorders died. Two of the three patients with MSUD survived without neurological impairment; the other had severe neurological damage and died at 9 months of age due to sepsis. CONCLUSION: Theoretically, extracorporeal dialysis should be the first dialysis treatment of choice; however, this report demonstrates that peritoneal dialysis has a chance to prevent neurological damage in some patients. Therefore, in developing countries without extracorporeal dialysis opportunities, it can be still a life-saving procedure, if it is applied with skilled staff and standard procedures.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/terapia , Diálise Peritoneal , Terapia Combinada , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Neonatal Candida infections are the leading cause of invasive fungal infections that might cause severe morbidity or mortality in a large majority of those affected. Although Candida albicans has been the most common species, Candida parapsilosis is increasingly being recognized as an important cause of invasive candidiasis in neonates. Among the Candida species, C. parapsilosis has been commonly isolated and shown to be less susceptible in vitro to echinocandins than other Candida species. We report an infant who had refractory C. parapsilosis septicemia cured with caspofungin.
Assuntos
Antifúngicos/uso terapêutico , Candida/efeitos dos fármacos , Candidíase/tratamento farmacológico , Farmacorresistência Fúngica , Equinocandinas/uso terapêutico , Doenças do Prematuro/tratamento farmacológico , Antifúngicos/administração & dosagem , Candida/classificação , Candida/isolamento & purificação , Candidíase/congênito , Candidíase/microbiologia , Caspofungina , Equinocandinas/administração & dosagem , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/microbiologia , Lipopeptídeos , Testes de Sensibilidade Microbiana , Resultado do TratamentoRESUMO
The medical records of 16 patients diagnosed as intracardiac thrombus were searched. The size, location and outcome of thrombus together with demographic data of patients were assessed. The median age of the patients was 2.2 years. Six patients were newborn and two patients were infant. The median size of thrombus was 9 mm. The localization was right atrium in seven, right ventricle in five, left ventricle in one, pulmonary artery in one, and superior vena cava in two patients. There was prematurity in five, ciyanotic congenital heart disease in one, blood culture positivity in three, malignancy in four, nephrotic syndrome in one, indwelling catheters in 10, and acquired or genetic thrombophilia in six patients as risk factors. In the treatment, the first choice was tissue plasminogen activator in two patients, heparin infusion in one patient and low molecular weight heparin in remaining 12 patients. In nine patients, therapy included parenteral antimicrobials together with anticoagulants. The result was complete resolution in 15 patients and in one patient thrombus was surgically removed. The median time was 16 (2-70) days for 50% resolution and 26 (3-93) days for complete resolution. There was a statistically significant (P = .027 and r = 0.5) correlation between the size and the complete resolution time. There was no anticoagulant therapy related major complication. In patients with intracardiac thrombus, selection of anticoagulant therapy may decrease the risk of complications. Surgery is rarely required and thrombolytics are not usually necessary for resolution of thrombus.
Assuntos
Fibrinolíticos/administração & dosagem , Cardiopatias , Heparina de Baixo Peso Molecular/administração & dosagem , Trombólise Mecânica , Trombose , Adolescente , Criança , Pré-Escolar , Feminino , Cardiopatias/diagnóstico , Cardiopatias/terapia , Humanos , Lactente , Recém-Nascido , Masculino , Fatores de Risco , Trombose/diagnóstico , Trombose/terapiaRESUMO
Diazoxide is the main therapeutic agent for persistent hyperinsulinemic hypoglycemia. Generally, it is tolerated well, but rarely it can cause severe life-threatening complications. We report a neonate who was treated with diazoxide for hyperinsulinemic hypoglycemia. On the 6th day of the treatment we observed sepsis-mimicking symptoms, mild pulmonary hypertension, and re-opening of the ductus arteriosus. All these findings resolved dramatically shortly after discontinuation of treatment. To our knowledge, this is the first reported case of re-opening of the ductus arteriosus due to diazoxide toxicity.
Assuntos
Diazóxido/efeitos adversos , Permeabilidade do Canal Arterial/induzido quimicamente , Hipertensão Pulmonar/induzido quimicamente , Diagnóstico Diferencial , Diazóxido/uso terapêutico , Humanos , Hiperinsulinismo/tratamento farmacológico , Hiperinsulinismo/fisiopatologia , Hipoglicemia/etiologia , Hipoglicemiantes/efeitos adversos , Hipoglicemiantes/uso terapêutico , Recém-Nascido , Masculino , Recidiva , Sepse/diagnóstico , Índice de Gravidade de Doença , Resultado do TratamentoRESUMO
BACKGROUND: Healthcare-acquired infections (HAIs) in the neonatal period cause substantial morbidity, mortality, and healthcare costs. Our purpose was to determine the prevalence of HAIs, antimicrobial susceptibility of causative agents, and the adaptivity of the Centres for Disease Control and Prevention (CDC) criteria in neonatal HAI diagnosis. METHODS: A HAI point prevalence survey was conducted in the neonatal intensive care units (NICUs) of 31 hospitals from different geographic regions in Turkey. RESULTS: The Point HAI prevalence was 7.6%. Ventilator-associated pneumonia (VAP) and central line-associated bloodstream infections (CLABSI) and late onset sepsis were predominant. The point prevalence of VAP was 2.1%, and the point prevalence of CLABSI was 1.2% in our study. The most common causative agents in HAIs were Gram-negative rods (43.0%), and the most common agent was Klebsiella spp (24.6%); 81.2% of these species were extended spectrum beta-lactamase (ESBL) (+). Blood culture positivity was seen in 33.3% of samples taken from the umbilical venous catheter, whereas 0.9% of samples of peripherally inserted central catheters (PICCs) were positive. In our study, 60% of patients who had culture positivity in endotracheal aspirate or who had purulent endotracheal secretions did not have any daily FiO2 change (p = 0.67) and also 80% did not have any increase in positive end-expiratory pressure (PEEP) (p = 0.7). On the other hand, 18.1% of patients who had clinical deterioration compatible with VAP did not have endotracheal culture positivity (p = 0.005). CONCLUSIONS: Neonatal HAIs are frequent adverse events in district and regional hospitals. This at-risk population should be prioritized for HAI surveillance and prevention programs through improved infection prevention practices, and hand hygiene compliance should be conducted. CDC diagnostic criteria are not sufficient for NICUs. Future studies are warranted for the diagnosis of HAIs in NICUs.
Assuntos
Infecção Hospitalar/epidemiologia , Infecções Relacionadas a Cateter/epidemiologia , Infecções Relacionadas a Cateter/microbiologia , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Pneumonia Associada à Ventilação Mecânica/epidemiologia , Prevalência , Sepse/epidemiologia , Inquéritos e Questionários , Turquia/epidemiologiaRESUMO
Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID). MVID is an intractable diarrhea of infantile onset with characteristic histopathologic findings that requires life-long parenteral nutrition or intestinal transplantation. A large number of such patients eventually develop cholestatic liver disease. Bi-allelic MYO5B mutations are also identified in a subset of patients with predominant early-onset cholestatic liver disease. We present here the compilation of 114 patients with disease-causing MYO5B genotypes, including 44 novel patients as well as 35 novel MYO5B mutations, and an analysis of MYO5B mutations with regard to functional consequences. Our data support the concept that (1) a complete lack of MYO5B protein or early MYO5B truncation causes predominant intestinal disease (MYO5B-MVID), (2) the expression of full-length mutant MYO5B proteins with residual function causes predominant cholestatic liver disease (MYO5B-PFIC), and (3) the expression of mutant MYO5B proteins without residual function causes both intestinal and hepatic disease (MYO5B-MIXED). Genotype-phenotype data are deposited in the existing open MYO5B database in order to improve disease diagnosis, prognosis, and genetic counseling.
RESUMO
INTRODUCTION: Multidrug resistance among bacteria increases the need for new therapeutic options. Tigecycline is one candidate drug, due to property of a wider anti-bacterial spectrum to multi-drug resistant (MDR) pathogens. However, it has still not been approved for use in pediatric patients. METHODS: In this study the effectiveness and safety of tigecycline in children was assessed retrospectively. RESULTS: A total of 36 pediatric patients, received tigecycline therapy with a median of 13 days (2-32 days). Tigecycline was used as a combination therapy in all cases. Microbiological eradication was achieved in 27 patients (75%) and clinical response was observed in 30 patients (83%). There were six cases (17%) of relapse. CONCLUSION: Our findings suggest that tigecycline may be an option for children with severe infections due to multidrug resistant bacteria.
Assuntos
Antibacterianos , Bacteriemia , Farmacorresistência Bacteriana Múltipla , Tigeciclina/uso terapêutico , Antibacterianos/uso terapêutico , Bacteriemia/tratamento farmacológico , Criança , Humanos , Estudos RetrospectivosRESUMO
Donohue syndrome describes the clinical consequences of the most severe genetic loss of insulin receptor function. The cardinal features are severe linear growth impairment pre- and postnatally with abnormal glucose metabolism and a characteristic pattern of soft tissue overgrowth. We report a 5 day old neonate with refractory hyperglycemia and paradoxical hypoglycemia, severe intrauterine growth retardation, typical 'elfin' facies (hypertrichosis, large and low-set ears, broad nasal tip, flared nares, thick lips), reduced subcutaneous fat, distended abdomen, and enlarged external genitalia and nipples. Fasting serum insulin and C-peptide were severely elevated at >2,100 pmol/l and >2,331 pmol/l, respectively. In addition, hepatic, ovarian and renal enlargement was demonstrated by ultrasonography. The neonate died within two months secondary to hypoglycemia. Diplex PCR analysis of the insulin receptor gene revealed the neonate to be homozygous for deletion of exon 3. Both parents were heterozygous for this deletion but were metabolically healthy. As such a deletion has previously been reported in Israel, we suggest that it may show a founder effect in the Middle East.
Assuntos
Anormalidades Múltiplas/genética , Retardo do Crescimento Fetal/genética , Deleção de Genes , Resistência à Insulina/genética , Receptor de Insulina/genética , Glicemia , Éxons , Evolução Fatal , Feminino , Homozigoto , Humanos , Hiperglicemia/genética , Hipoglicemia/genética , Recém-Nascido , SíndromeRESUMO
We present a female infant with facial abnormalities such as bilateral cleft lip and palate, ectrodactyly and central diabetes insipidus. She had a history of recurrent hypernatremic attacks and she was treated successfully with oral desmopressin. As an alternative to the nasal route, long-term management was achieved using oral route and she had a favorable growth and development during infancy.
Assuntos
Anormalidades Múltiplas , Antidiuréticos/uso terapêutico , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Desamino Arginina Vasopressina/uso terapêutico , Diabetes Insípido Neurogênico/tratamento farmacológico , Dedos/anormalidades , Dedos do Pé/anormalidades , Antidiuréticos/administração & dosagem , Desamino Arginina Vasopressina/administração & dosagem , Diabetes Insípido Neurogênico/epidemiologia , Diabetes Insípido Neurogênico/metabolismo , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância MagnéticaRESUMO
Degerliyurt A, Gündüz M, Ceylaner S, Ünal Ö, Ünal S. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. Turk J Pediatr 2019; 61: 261-266. Biotin-thiamine-responsive basal ganglia disease is characterized by seizures, dystonia and encephalopathy attacks, with an acute-subacute onset in childhood. It causes cerebral damage especially with caudate head and putamen involvement and may lead to severe sequelae and even death if left untreated. We report a patient with the neonatal form of biotin-thiamine-responsive basal ganglia disease who presented with encephalopathy and lactic acidosis in the neonatal period together with the diagnostic magnetic resonance imaging (MRI) clues. MRI in the neonatal period revealed bilateral involvement of the putamen, thalamus, and perirolandic cortical regions. However, MRI obtained at 32 months revealed involvement of the caudate nuclei in addition to the putamen and thalami. The neuroimaging findings of our patient and relevant literature indicate that patients with biotin-thiamine-responsive basal ganglia disease who are symptomatic in the neonatal period have putamen, thalami, and perirolandic cortical involvement. However, these patients do not have caudate involvement, unlike the patients who present in childhood.
Assuntos
Doenças dos Gânglios da Base/diagnóstico , Encéfalo/patologia , Imageamento por Ressonância Magnética/métodos , Doenças dos Gânglios da Base/genética , Doenças dos Gânglios da Base/metabolismo , Biotina , Análise Mutacional de DNA , Diagnóstico Diferencial , Humanos , Recém-Nascido , Masculino , Proteínas de Membrana Transportadoras/genética , Proteínas de Membrana Transportadoras/metabolismo , MutaçãoRESUMO
Hypophosphatasia (HPP) is associated with significant morbidity and mortality in pediatric patients. The disease also imposes a high disease-burden in adult-onset HPP. Asfotase alfa (AA) is the first-in-class, bone-targeted, enzyme- replacement therapy designated to reverse the skeletal mineralisation defects in HPP. A male newborn presented with extreme fontanel gap and respiratory distress. He was diagnosed with perinatal lethal HPP thus AA treatment was started. Serum alkaline phosphatase (ALP) levels increased as high as 12,700 U/L during treatment. Any side effect related to AA was not observed. AA may be a valuable emerging therapy for the treatment of HPP.
Assuntos
Fosfatase Alcalina/uso terapêutico , Terapia de Reposição de Enzimas , Hipofosfatasia/tratamento farmacológico , Imunoglobulina G/uso terapêutico , Proteínas Recombinantes de Fusão/uso terapêutico , Humanos , Hipofosfatasia/diagnóstico , Recém-Nascido , Masculino , Resultado do TratamentoAssuntos
Neoplasias Encefálicas/diagnóstico por imagem , Hidrocefalia/diagnóstico por imagem , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Teratoma/diagnóstico por imagem , Neoplasias Encefálicas/complicações , Evolução Fatal , Feminino , Seguimentos , Humanos , Hidrocefalia/etiologia , Recém-Nascido , Radiografia , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Neoplasias da Coluna Vertebral/complicações , Teratoma/complicaçõesRESUMO
BACKGROUND/AIM: We aimed to evaluate wheezing, bronchial asthma (BA), and atopy in premature infants at 2 years of age via a cross-sectional study. MATERIALS AND METHODS: Premature infants at <37 weeks of gestational age (GA) were assessed for atopy by skin-prick test and serum immunoglobulin E level at 2 years of age. The family's and infant's histories of allergy, BA, atopy, and wheezing were obtained by questionnaire and from hospital records. RESULTS: There were 98 infants, with mean birth weight (BW) 1517.4 ± 486.5 g and GA 30.8 ± 2.9 weeks. The frequencies of wheezing, asthma, and bronchopulmonary dysplasia (BPD) were 32.7%, 16.3%, and 14.3%, respectively. Skin-prick tests were positive for 11 subjects, with allergy to cereals for 7 infants, egg for 3, and peanut for 1. Wheezing was related to GA, BW, respiratory distress syndrome, mechanical ventilation, sepsis, asphyxia, smoking, antenatal steroid, BA, palivizumab prophylaxis, number of people in the household, and duration of hospitalization (P < 0.05). Wheezing was negatively correlated to GA. Family history of BA, smoking, and number of people in the household were linked to BA (P < 0.05). CONCLUSION: Wheezing was related to degree of premature birth, but BA was linked to BA in the family and smoking. Increased gestation should improve the infant's respiratory health up to 2 years of age.
Assuntos
Asma/epidemiologia , Hipersensibilidade/epidemiologia , Recém-Nascido Prematuro , Sons Respiratórios/fisiopatologia , Pré-Escolar , Estudos Transversais , Feminino , Humanos , MasculinoRESUMO
BACKGROUND: Neonatal hypernatremic dehydration is prevented by daily neonatal weight monitoring. We aim to provide evidence-based support of this universally promoted weighing policy and to establish the most crucial days of weighing. METHODS: Weight measurements of 2,359 healthy newborns and of 271 newborns with clinical hypernatremic dehydration were used within the first seven days of life to simulate various weighting policies to prevent hypernatremic dehydration; its sensitivity, specificity and positive predictive value (PPV) of these policies were calculated. Various referral criteria were also evaluated. RESULTS: A policy of daily weighing with a cut-off value of -2.5 Standard Deviation Score (SDS) on the growth chart for weight loss, had a 97.6% sensitivity, 97.6% specificity and a PPV of 2.80%. Weighing at birth and only at days two, four and seven with the same -2.5 SDS cut-off, resulted in 97.3% sensitivity, 98.5% specificity and a PPV of 4.43%. CONCLUSION: A weighing policy with measurements restricted to birth and day two, four and seven applying the -2.5 SDS cut-off seems an optimal policy to detect hypernatremic dehydration. Therefore we recommend to preferably weigh newborns at least on day two (i.e. ~48h), four and seven, and refer them to clinical pediatric care if their weight loss increases below -2.5 SDS. We also suggest lactation support for the mother, full clinical assessment of the infant and weighing again the following day in all newborns reaching a weight loss below -2.0 SDS.
Assuntos
Peso Corporal , Aleitamento Materno , Desidratação , Prática Clínica Baseada em Evidências , Hipernatremia , Desidratação/fisiopatologia , Desidratação/prevenção & controle , Feminino , Humanos , Hipernatremia/fisiopatologia , Hipernatremia/prevenção & controle , Lactente , Recém-Nascido , MasculinoRESUMO
Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the underlying pathology. Genetic analysis is important in the diagnosis, treatment, patient follow-up, and prediction of recurrence risk within families. Our patient had severe hypoglycemia and seizure following birth. His diagnostic evaluations including genetic testing confirmed CHI. He was treated with a high-glucose infusion, high-dose diazoxide, nifedipine, and glucagon infusion. A novel homozygous mutation (p.F315I) in the KCNJ11 gene, leading to diazoxide-unresponsive CHI, was identified. Both parents were heterozygous for this mutation. Our patient's clinical course was complicated by severe refractory hypoglycemia; he was successfully managed with sirolimus and surgical intervention was not required. Diazoxide, nifedipine, and glucagon were discontinued gradually following sirolimus therapy. The patient was discharged at 2 months of age on low-dose octreotide and sirolimus. His outpatient clinical follow-up continues with no episodes of hypoglycemia. We present a novel homozygous p.F315I mutation in the KCNJ11 gene leading to diazoxide-unresponsive CHI in a neonate. This case illustrates the challenges associated with the diagnosis and management of CHI, as well as the successful therapy with sirolimus.
Assuntos
Hiperinsulinismo Congênito/tratamento farmacológico , Predisposição Genética para Doença/genética , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Sirolimo/uso terapêutico , Hiperinsulinismo Congênito/genética , Consanguinidade , Saúde da Família , Feminino , Heterozigoto , Homozigoto , Humanos , Imunossupressores/uso terapêutico , Recém-Nascido , Masculino , Pais , Resultado do TratamentoRESUMO
Objective. Infants with respiratory failure may require prolonged intubation. There is no consensus on the time of tracheotomy in neonates. Methods. We evaluated infants applied tracheotomy, time of procedure, and early complications in our neonatal intensive care unit (NICU) retrospectively from January 2012 to December 2013. Results. We identified 9 infants applied tracheotomy with gestational ages 34 to 41 weeks. Their diagnoses were hypotonic infant, subglottic stenosis, laryngeal cleft, neck mass, and chronic lung disease. Age on tracheotomy ranged from 4 to 10 weeks. Early complication ratio was 33.3% with minimal bleeding (1), air leak (1), and canal revision requirement (1). We discharged 7 infants, and 2 infants died in the NICU. Conclusion. Tracheotomy makes infant nursing easy for staff and families even at home. If carried out by a trained team, the procedure is safe and has low complication. When to apply tracheotomy should be individualized, and airway damage due to prolonged intubation versus risks of tracheotomy should be taken into consideration.
RESUMO
We aimed to evaluate the neonates diagnosed as IEM in our neonatal intensive care unit and their outcomes. Among 2994 neonates hospitalized, 51 were diagnosed as IEM (1.7%). Admission complaints were poor feeding, decreased activity, jaundice, seizures, abnormal screening and respiratory problems. Phenylketonuria (11), organic acidemias (8), maple syrup urine disease (5), citrullinemia (5), galactosemia (4), nonketotic hyperglycinemia (4) and tyrosinemia (2) were the most commonly diagnosed IEMs. The follow-up period was 2.5-43 months. Among the 33 neonates followed, 19 had normal development, 9 had developmental delays and 5 had cerebral palsy according to the Guide for Monitoring Child Development. Postnatal age on admission, Apgar score at 5 minutes, being transferred, peritoneal dialysis, cranial ultrasonographic findings, consanguinity and sibling history had significant effects on outcome. Early diagnosis through expanded neonatal screening in countries with high rates of consanguinity, enabling the initiation of early treatment, is essential for achieving low mortality rates and good prognoses.