Miopatia nemalinowa u noworodka – opis rzadkiej choroby

Nemaline myopathy (NM) is a genetically and clinically heterogeneous muscle disorder, defined by the presence of characteristic nemaline bodies on muscle biopsy. The disease has a wide spectrum of phenotypes, ranging from forms with neonatal onset and fatal outcome to asymptomatic forms. The neonatal form is severe and usually fatal. The clinical variability, with differing age of onset and severity of symptoms makes the diagnosis difficult during infancy. There is no curative treatment. L-tyrosine may prevent aspiration by reducing pharyngeal secretions and drooling. Most of the patients die from respiratory and cardiac failure. This article discusses a newborn infant who presented with generalized weakness and respiratory failure. Partial response to L-tyrosine treatment was noted. The case is worth presenting to remind clinicians of congenital myopathies in the differential diagnosis of floppy infant during neonatal period and to emphasize the importance of muscle biopsy in diagnosis.Miopatia nemalinowa jest schorzeniem mięśni, niejednorodnym pod względem genetycznym i klinicznym. Chorobę cechuje obecność charakterystycznych struktur nemalino-wych w bioptacie mięśnia. Fenotyp jest bardzo zróżnicowany i obejmuje zarówno postacie noworodkowe prowadzące do zgonu, jak i postacie bezobjawowe. Postać noworodkowa przebiega ciężko i zwykle kończy się śmiercią. Zmienność kliniczna, łącznie ze zróżnicowanym wiekiem w chwili wystąpienia objawów i z różnym ich nasileniem, może utrudniać rozpoznanie w wieku niemowlęcym. Choroba jest nieuleczalna. Podawanie L-tyrozyny może zapobiec zachłyśnięciu poprzez zmniejszenie produkcji wydzieliny w gardle i śliny. Większość chorych umiera z powodu niewydolności oddechowej i krążenia. W artykule omówiono przypadek noworodka z uogólnionym niedowładem i niewydolnością oddechową. Reakcja na podawanie L-tyrozyny była częściowa. Przedstawiony opis przypadku ma na celu przypomnienie klinicystom o miopatiach wrodzonych, które należy uwzględniać w rozpoznaniu różnicowym zespołu wiotkiego dziecka w okresie noworodkowym, oraz podkreślenie znaczenia biopsji mięśnia w ustalaniu rozpoznania

Evaluation of symptomatic cytomegalovirus infections in our hospital between 2004 and 2009

Objective: Cytomegalovirus (CMV) infection is the most frequently seen congenital infection. While it is seen in all age groups, it may have some severe negative impacts on the fetus when exposed during intrauterine life. In our study, we evaluated the patients with symptomatic cytomegalovirus infection. Methods: Admission files of 40 patients admitted at Dr. Behcet Uz Children's Hospital between December 2004 and December 2009 for a variety of reasons and diagnosed as CMV infection as a result of clinical and laboratory analyses were investigated retrospectively. Diagnosis of the patients thought to be CMV infection was made based on CMV IGM positivities, and if facilities permitted diagnosis of CMV infection was established with CV DNA-PCR and antigenemia tests. Results: Symptomatic CMV infection was diagnosed in a total of 40 patients. When diagnostic classification was performed, 40% of them had congenital CMV and 60% of them acquired CMV. The frequency of symptomatic congenital CMV infection at our hospital between 2004-2009 was identified as 0.1 percent. The most frequently detected physical findings were hepatosplenomegaly (40%) and jaundice (30%). When we investigated prognosis of cases with congenital CMV we found motor mental retardation in 37.5%, hearing impairment in 25%, epilepsy in 12.5% and growth retardation 12.5% of the patients. In cases with acquired CMV improvement rates in patients treated for hepatitis and pneumonia were 70% and 100% respectively. Conclusion: The frequency of CMV infection in our study shows similarity with other developing countries. Patients with primary and secondary immunodeficiencies and newborns must be carefully approached. We recommend ganciclovir treatment for the selected cases

A Novel Scoring System for Pediatric Intensive Care Unit Patients: Modified APACHE II and Comparison with Other Scoring Systems

Objective: Several scoring systems are being used in order to objectively evaluate the clinical conditions and the prognosis of the patients who are hospitalized in the intensive care units and to be able to use the intensive care units efficiently. The aim of this study is to investigate the availability and reliability of Pediatric Risk of Mortality (PRISM) and Pediatric Index of Mortality (PIM) scores in determining mortality in the patients who were monitored in our pediatric intensive care unit during one year and to compare APACHE II (Acute Physiological and Chronic Health Evaluation Score II) scoring system modified for pediatric age group with these scoring systems. Material and Methods: This study was performed on 250 patients aged between 1 month- 16 years who were monitored in the pediatric intensive care unit for a period of one year. The ability of PRISM, PIM and APACHE II scoring systems on determining potantial mortality risk was evaluated in three different age groups (1-12 months, 13-60 months and above 61 months). Results: In our study, the mortality rate was found as 34.4% while the average expected risk of death was found to be 16.6% in PIM scoring system, 21.5% in PRISM and 37.6% in modified APACHE. When assessed these three mortality scoring systems, the modified APACHE II scoring system was the most successful in theprediction of death rates of all three age groups in terms of the expected average mortality risk, SMR and the results of ROC analysis. Conlusion: We suggest that a new and more efficient scoring system can be composed by planning multicentered studies including pediatric intensive care units with different features

Properdin deficiency in a boy with fulminant meningococcal septic shock

Bacterial meningitis is a rare presentation for congenital immunodeficiency, but meningococcal invasive diseases and meningitis have been associated with late complement component deficiencies and properdin deficiency. A 5(1)/(2)-y-old boy of non-consanguineous parents was admitted to our hospital with meningococcal septic shock. He had previously been suffering from recurrent respiratory infections. His 13-y-old brother had also been treated for meningococcal meningitis when he was 7 y old. Immunological studies, done after recovery, on the patient and his two brothers revealed normal immunoglobulin, IgG subclasses, C3, C4 and CH50 levels. Haemolytic activity of the alternative complement pathway could not be detected, and properdin concentrations were < 0.01 mg/l in serum samples from the patient and his brothers. The patient and family members received quadrivalent polysaccharide meningococcal vaccine. The patient was discharged on penicillin prophylaxis, and he remained healthy during the ensuing year. Conclusion: Our findings stress that measurement of the haemolytic activity of the alternative complement pathway in addition to classical pathway haemolytic complement activity should be performed in patients with meningococcal disease to reveal various forms of complement deficiency. This is particularly important when there is a family history, or recurrences or infection due to uncommon serogroups. Deficient individuals and affected family members might be protected from infection by vaccination

Comparison of Nebulized Salbutamol, Nebulized Steroid and Systemic Steroid in Acute Bronchiolitis Treatment

Objective: Nebulized beta agonist, nebulized steroid and systemic steroids are being used in acute bronchiolitis treatment, but there is no consensus on the efficiacy of this regimen. In this study, comparison of clinical efficacies of these agents with uncertain outcomes was planned

Vein of Galen aneurysm in a newborn baby

WOS: 000310402100040Although vein of Galen aneurysm is a rare pathology, it is the most common form of symptomatic cerebrovascular malformation in neonates and infants. Advanced high flow intracerebral shunt may cause high-flow congestive heart failure depending on an increase in the volume accompanied by different levels of pulmonary hypertension. Unfortunately, the prognosis is poor particularly in newborns with heart failure findings. Surgery and arterial embolization are only partially successful in controlling flow through Galenic fistulas. However, in parallel to the improvements in endovascular embolization techniques and the innovations in the newborn intensive care practices, major developments in controlling congestive heart failure and pulmonary hypertension have been achieved. In this article, we report a newborn case who presented with severe high-flow congestive heart failure and was diagnosed with the vein of Galen malformation. The case was found worth presenting to remind clinicians the vein of Galen malformation in the differential diagnosis of severe congestive heart failure and persistent, treatment refractory pulmonary hypertension at systemic/suprasystemic level during neonatal period. It is also of utmost importance to emphasize the role of embolization into abnormal feeding arteries as an alternative treatment of choice

Comparison of Oral and Intravenous Ibuprofen for Medical Closure of Patent Ductus Arteriosus: Which One Is Better?

WOS: 000311611000010PubMed ID: 22613269Objective. Intravenous ibuprofen is an expensive drug that is being used currently for treating and preventing patent ductus arteriosus. Although oral ibuprofen is much cheaper, there is limited data published about its safety and efficacy. The aim of this study was to compare two forms of ibuprofen in terms of safety and efficacy in closure of patent ductus arteriosus. Design. This is a single-center retrospective study. Setting. Data were collected from patients' files of preterm infants who were hospitalized at the Neonatal Intensive Care Unit of Dr. Behcet Uz Children's Hospital between April 2009 and June 2010. Patients. Six hundred sixty infants were evaluated by echocardiography between 24 and 48 postnatal hours. Clinically and hemodynamically significant ductus arteriosus was defined in 66 infants with gestational age less than 32 weeks and birth weight less than 1500 g. Interventions. Oral or intravenous ibuprofen (loading dose: 10 mg/kg on day 1, followed by maintenance dose: 5 mg/kg on days 2 and 3) was administered. Outcome Measures. Treatment success was defined as a completely closed duct without reopening on follow-up. Drug-associated renal, gastrointestinal, cerebral, hematological, and metabolic side effects were monitored and compared between treatment groups. Results. Ductal closure rates were 100% and 97.6%, respectively, in the oral and intravenous groups. Hypernatremia was the remarkable side effect in the intravenous group, whereas bronchopulmonary dysplasia and septicemia were prominent in the oral group. No statistically significant difference could be demonstrated between the groups in terms of mortality rates. Conclusion. Oral ibuprofen therapy is as efficacious as intravenous ibuprofen with some concerns about increased sepsis and bronchopulmonary dysplasia incidence. However, comprehensive and large-scale pharmacokinetic studies are required in order to prove this efficacy. On the other hand, intravenous ibuprofen still remains to be the drug of choice for patent ductus arteriosus but only with meticulous control of serum sodium levels in smaller infants

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family

Microcephalylymphedemachorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a long philtrum with a pointed chin. Recently, mutations in KIF11 have been demonstrated to cause dominantly inherited MLCRD syndrome. Herein, we present a patient with MLCRD syndrome whose parents were first cousins. The parents are unaffected, and thus a recessive mode of inheritance for the disorder was considered likely. However, the propositus carries a novel, de novo nonsense mutation in exon 2 of KIF11. The patient also had midline cleft tongue which has not previously been described in this syndrome. (C) 2012 Wiley Periodicals, Inc

Epidemic Adenoviral Keratoconjunctivitis Possibly Related to Ophthalmological Procedures in a Neonatal Intensive Care Unit: Lessons from an Outbreak

Purpose: Epidemic adenoviral keratoconjunctivitis can spread rapidly among preterm infants who frequently undergo ophthalmological examination. Here we present our experience on a nosocomial outbreak that affected 8 nursery staff members and 26 premature infants. We focus on the presentation and progress of the outbreak, the diagnosis of the disease and the measures taken for its control

One -year experience in the retinopathy of prematurity: frequency and risk factors, short-term results and follow-up

AIM: As a result of the increase in premature births and the advances in neonatal intensive care, retinopathy of prematurity (ROP) remains one of the most important causes of childhood blindness worldwide. The main factors in the development of ROP are gestational age, birth weight and oxygen therapy. ROP continues to gain importance due to the increasing survival rates of more immature babies