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

A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion

The Effect of Kangaroo Care on Pain Score During Recurrent Heel Lance Procedures in Newborns

Objective: The aim of this study was to investigate the effect of kangaroo care provided during recurrent heel lance procedures on the pain score of a newborn

Is there a relationship between maternal periodontitis and pre-term birth? A prospective hospital-based case-control study

Objective. The aim of this study is to verify the existence of an association between maternal periodontal disease and pre-term delivery in an unselected population of post-partum Turkish women. Materials and methods. This case-control study was conducted on 100 women who gave birth in either a special or a government maternity hospital. The case group consisted of 50 mothers who had delivered an infant before 37 weeks' gestation and weighed under 2500 g. The control group included 50 mothers who had given birth to an infant with a birth weight of more than 2500 g and a gestational age of >= 37 weeks. Data of mothers and infants were collected using medical registers and questionnaires. Clinical periodontal examinations were carried out in six sites on every tooth in the mother's mouth. A participant who presented at least four teeth with one or more sites with a PPD >= 4 mm and CAL >= 3 mm at the same site was considered to have periodontal disease. Statistical methods included parametric and non-parametric tests and multiple logistic regression analysis. Results. There were no statistically significant differences between the cases and controls with regard to periodontal disease and pre-term delivery (OR = 1.48; 95% CI = 0.54-4.06). Conclusion. The findings indicated that maternal periodontitis was not a possible risk factor for pre-term delivery. Further studies with additional clinical trials are needed to explore the possible relationship between periodontal disease and pre-term birth

Investigation of Acquired Von Willebrand Syndrome in Children with Hypothyroidism: Reversal after Treatment with Thyroxine

WOS: 000282928800019PubMed ID: 21175099Background: Acquired von Willebrand Syndrome (AvWS) is a rare bleeding disorder associated with various underlying conditions. Many case reports have been published so far on bleeding tendency in hypothyroidism resembling AvWS. Objective: This study was designed to define the relationship between hypothyroidism and AvWS and to investigate the effects of L-thyroxine treatment. Subjects: Twenty four hypothyroid patients were included in the study. Nineteen patients were evaluated during treatment, 5 patients were evaluated before hormone replacement. Methods: Complete coagulation screening tests including levels of von Willebrand Factor antigen (vWF:Ag) and functional activity (vWF:RCo) were measured by thrombocyte aggregometer. Results: We demonstrated low vWF:Ag and vWF:RCo in 13 patients. Two of the 13 patients were diagnosed as AvWS, while another 2 patients were diagnosed as hereditary vWD Type 1. The remaining patients are still being followed-up. Conclusion: We would like to attract the attention of paediatricians to the possibility of bleeding due to decreased activity of vWF in hypothyroid children

Hypernatremic Dehydration Risk Factors in Newborns: Prospective Case-Controlled Study

Zusammenfassun

A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion

Is there a relationship between platelet parameters and patency of ductus arteriosus in preterm infants?

Postnatal closure of the ductus arteriosus is a complicated two-phase process involving functional and structural changes. So far, the precise mechanisms regulating this process are not fully understood. A growing body of evidence from recent studies suggests that platelets play a key role in inflammatory processes including ductal closure via interaction with endothelial cells. The aim of this study is to assess whether a relationship exists between the occurrence and/or closure of hemodynamically significant ductus arteriosus (HSDA) and platelet parameters (platelet count, circulating platelet mass, mean platelet volume, platelet distribution width) in preterm newborns. This single-center, retrospective study included 824 premature infants between 24 and 34 gestational weeks, evaluated by echocardiography at postnatal 72-96 h. Infants with and without HSDA (nU208 vs. nU616) were compared in terms of platelet parameters recorded within the first 3 days of life. Oral or intravenous ibuprofen was commenced for medical treatment, and echocardiography was repeated 24 h thereafter to determine ductal closure. No statistically significant difference could be demonstrated between the groups in terms of baseline platelet parameters. HSDA was independently associated with early-onset neonatal sepsis. Thrombocytopenia, low circulating platelet mass, high platelet distribution width, or high mean platelet volume could not be demonstrated as a risk factor for HSDA. None of the platelet parameters had an influence on ductal closure after medical treatment. Unlike most reports in the literature, presence of HSDA was not associated with any platelet parameter in our study. We could not demonstrate an association between any platelet parameter and either persistence or closure after medical treatment. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved

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