1/28. brain dysgenesis in Cornelia de lange syndrome.The neuropathological findings in a neonatal case of Cornelia de lange syndrome (CDLS) were described. Two different types of lesions were revealed in the affected brain. The first type was classified as perinatal hypoxic-ischemic brain damage, associated with cyanotic congenital heart anomalies: subarachnoideal, intraventricular, and parenchymal hemorrhage, and multiple necrosis in the cerebral white matter, basal ganglia, internal capsule, thalamus, mammillary bodies and dentate nucleus. This type may be non-specific and common in premature babies dying soon after birth. On the other hand, the second type was classified as congenital dysgenesis of the brain: microbrachycephaly, immature or simple convolution pattern of the cerebral gyri, thickened leptomeninges, persistent subpial granule cells, hypoplasia of the anterior thalamic nuclei, neurohypophysis, lateral geniculate body, cerebral peduncle, ventral pons and cerebellar internal granular layer, and heterotopic cell nests in the cerebellar white matter. This type may indicate that the maturation of the brain can be disturbed in the fetal period, particularly in the mid-gestational period. In conclusion, pathognomonic or specific changes of CDLS might be absent in the brain. However, congenital dysgenesis of the brain, especially that found in the diencephalon and the cortico-ponto-cerebellar system, may constitute morphologic evidence explaining the severe growth retardation and neurological abnormalities in CDLS.- - - - - - - - - - ranking = 1keywords = white (Clic here for more details about this article) |
2/28. Thrombosis of the deep cerebral veins with excessive bilateral infarction in a premature infant with the thrombogenic 4G/4G genotype of the plasminogen activator inhibitor-1.We report on a preterm infant with deep cerebral venous thrombosis, a rare condition in this age group. This premature infant had a gestational age of 33 weeks and normal development until day 18, when he presented with tonic seizures and a tense fontanelle. Ultrasound and computed tomography revealed bilateral haemorrhagic infarction of the whole region drained by the deep cerebral veins, including the periventricular white matter, thalamus and choroid plexus. The child was homozygous for the 4G allele of the plasminogen activator inhibitor-1 (PAI-1) 4G/5G promoter polymorphism. CONCLUSION: In patients with bilateral cerebral infarction, thrombosis of the deep cerebral veins should be considered. In addition the role of prothrombotic risk factors, including PAI-1 4G/5G promoter polymorphism, in cerebral vein thrombosis should be clarified in a multicentre study.- - - - - - - - - - ranking = 0.5keywords = white (Clic here for more details about this article) |
3/28. Use of enoxaparin in a preterm infant.OBJECTIVE: To describe the use of enoxaparin to treat suspected thrombosis in a preterm neonate. CASE DESCRIPTION: A 29-week-gestation white infant with a family history of protein s deficiency lost color and blood flow to the right hand several hours after removal of the umbilical artery catheter. Although normal color returned to all except the distal first, second, and third fingers after warming, Doppler flow showed a radial artery defect, indicating a lack of blood flow. enoxaparin 1 mg/kg intravenously every eight hours was then started. heparin concentrations measured via anti-Xa assay drawn four and eight hours after a dose were 0.78 and 0.39 units/mL, respectively. Pharmacokinetic parameters calculated from these concentrations using a one-compartment model were elimination half-life four hours, volume of distribution 0.13 L/kg, and clearance 0.022 L/kg/h. No adverse effects were noted. Blood flow eventually returned, leaving only the third fingertip chronically injured. DISCUSSION: Differences between the neonatal and adult hemostatic systems contribute to an increased risk of thromboembolic events and an altered sensitivity to heparin anticoagulation in the neonate. Although heparin is currently the anticoagulant of choice, it may produce several adverse effects, such as hemorrhage and thrombocytopenia, which may be avoided by use of low-molecular-weight heparins (LMWHs). However, despite the efficacy and improved safety profile of LMWHs in adults, data regarding their use in children and neonates are scarce. This case demonstrates that enoxaparin can be used safely and effectively in a preterm infant through appropriate monitoring of heparin concentrations to adjust dosages. A larger volume of distribution of enoxaparin was noted in this neonate than in adults. CONCLUSIONS: enoxaparin 1 mg/kg intravenously every eight hours was used safely in this preterm infant with suspected thrombosis, suggesting that more than one dosing regimen may be appropriate in this population.- - - - - - - - - - ranking = 0.5keywords = white (Clic here for more details about this article) |
4/28. A case of protein-losing enteropathy caused by intestinal lymphangiectasia in a preterm infant.Intestinal lymphangiectasia is characterized by obstruction of lymph drainage from the small intestine and lacteal dilation that distorts the villus architecture. Lymphatic vessel obstruction and elevated intestinal lymphatic pressure in turn cause lymphatic leakage into the intestinal lumen, thus resulting in malabsorption and protein-losing enteropathy. Intestinal lymphangiectasia can be congenital or secondary to a disease that blocks intestinal lymph drainage. We describe the first case of intestinal lymphangiectasia in a premature infant. The infant presented with peripheral edema and low serum albumin; high fecal concentration of alpha(1)-antitrypsin documented intestinal protein loss. endoscopy showed white opaque spots on the duodenal mucosa, which indicates dilated lacteal vessels. histology confirmed dilated lacteals and also showed villus blunting. A formula containing a high concentration of medium chain triglycerides resulted in a rapid clinical improvement and normalization of biochemical variables. These features should alert neonatologists to the possibility of intestinal lymphangiectasia in newborns with hypoalbuminemia and peripheral edema. The intestinal tract should be examined for enteric protein losses if other causes (ie, malnutrition and protein loss from other sites) are excluded. The diagnosis rests on jejunal biopsy demonstrating dilated lymphatic lacteal vessels.- - - - - - - - - - ranking = 0.5keywords = white (Clic here for more details about this article) |
5/28. Unilateral parenchymal haemorrhagic infarction in the preterm infant.A unilateral parenchymal haemorrhage associated with a germinal matrix-intraventricular haemorrhage (GMH-IVH) is still an important problem in the preterm infant and especially in those who are very immature. This type of lesion is now considered mainly to be caused by impaired drainage of the veins in the periventricular white matter and is often referred to as a venous infarction. The risk factors and neonatal imaging findings, as well as neurodevelopmental outcome and imaging data in infancy, of this type of lesion differ from those found in children with bilateral periventricular leukomalacia. An effort should, therefore, always be made to make a distinction between these two types of lesions. In our experience it is possible to make this distinction in most cases, when performing both sequential ultrasonography as well as selective magnetic resonance imaging during the neonatal period.- - - - - - - - - - ranking = 0.5keywords = white (Clic here for more details about this article) |
6/28. The use of recombinant activated factor vii to control bleeding in a preterm infant undergoing exploratory laparotomy.The case of a preterm infant weighing 1120 g who successfully received recombinant activated factor vii (rFVIIa) without complication for control of a life-threatening bleeding event resulting from a ruptured umbilical artery is reported. After performing an exploratory laparotomy at 27 hours of age, hemorrhage from the surgical wound and various sites persisted. By 63 hours of age, the infant had received a total of 192 mL (171 mL/kg) of packed red blood cells, 115 mL (103 mL/kg) of fresh frozen plasma, 8 mL of cryoprecipitate, and 75 mL (67 mL/kg) of platelet concentrate without stabilization. hemorrhage ceased after 2 doses of 40 microg/kg/dose recombinant activated factor vii given at 63 and 70 hours of age, with subsequent stabilization of the hematocrit and without need for additional transfusion therapy.- - - - - - - - - - ranking = 1.8915474193712keywords = blood cell (Clic here for more details about this article) |
7/28. Neonatal microscopic polyangiitis secondary to transfer of maternal myeloperoxidase-antineutrophil cytoplasmic antibody resulting in neonatal pulmonary hemorrhage and renal involvement.BACKGROUND: microscopic polyangiitis is a systemic vasculitis characterized by small vessel involvement. Studies suggest myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) is involved in its pathogenesis, and the titer may reflect disease activity. OBJECTIVE: To report a case of transplacental transfer of MPO-ANCA from a mother to a 33-week gestational age neonate that resulted in neonatal pulmonary hemorrhage and renal involvement that was successfully treated with high-dose steroid therapy and exchange transfusion. methods: MPO-ANCA titers from the cord blood and the neonate on the 8th, 15th, and 25th days of life (DOLs) were obtained. Metabolic panels and chest x-ray examinations were performed for the neonate and mother and the following values were measured: ANCA, erythrocyte sedimentation rate, c-reactive protein, antinuclear antibody, serial urinalysis, and complete blood cell count. Anti-glomerular basement membrane, quantitative immunoglobulins, anticardiolipin antibody, and rheumatoid factor were also measured for the neonate. RESULTS: The neonate had elevated MPO-ANCA titers at birth. Pulmonary hemorrhage and renal involvement were seen on DOL 2. High-dose steroid therapy decreased symptoms within 1.5 hours of initiation. Exchange transfusion performed on DOL 5 removed all of the remaining MPO-ANCA by DOL 25. The child remains asymptomatic to date. CONCLUSIONS: To our knowledge, this is the first reported case of transplacental transfer of MPO-ANCA resulting in pulmonary-renal syndrome that was successfully treated with high-dose steroid therapy and exchange transfusion.- - - - - - - - - - ranking = 1.8915474193712keywords = blood cell (Clic here for more details about this article) |
8/28. Tachyarrhythmia, cardiac rhabdomyomata and fetal hydrops in a premature infant with tuberous sclerosis.An hydropic infant was delivered at 32 weeks gestation by emergency Caesarean section for acute polyhydramnios. A diagnosis of cardiac rhabdomyomata was made on echocardiography. The baby survived 10 days, during which time repeated episodes of supraventricular tachycardia occurred. She eventually died of cardiac failure following an episode of septicaemia, convulsions and aspiration pneumonia. Necropsy showed multiple cardiac rhabdomyomata and numerous cerebral germinal layer and periventricular white matter nodules. This case stresses the importance of clinical investigations and perinatal necropsy in non-immune hydrops fetalis (NIHF) in determining the causes of clinical presentation and the underlying pathology.- - - - - - - - - - ranking = 0.5keywords = white (Clic here for more details about this article) |
9/28. Multifocal lymphangioendotheliomatosis with thrombocytopenia: a rare cause of gastrointestinal bleeding in the newborn period.Severe gastrointestinal bleeding in the newborn period is a serious but uncommon phenomenon that has a broad differential diagnosis. In the following case report we describe a rare phenomenon in which a newborn presents with severe hematemesis, hematochezia, and thrombocytopenia that are resistant to repeated platelet and packed red blood cell transfusions. Previous cases have been reported, but none of the patients described presented within the first 8 days of life. The early age of presentation and refractory nature of this disease entity to multiple therapies make it a diagnostic and therapeutic dilemma for all physicians involved in the care of newborns.- - - - - - - - - - ranking = 1.8915474193712keywords = blood cell (Clic here for more details about this article) |
10/28. short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant.This case report describes the neuropathological findings in an autopsy case of short rib-polydactyly syndrome (SRPS). The patient was a Japanese female neonate who was born at 35 weeks of gestation and died soon after birth due to severe cardiopulmonary insufficiency. Clinical and radiological findings were most consistent with SRPS type I (Saldino-Noonan type). General autopsy findings included situs inversus, persistent truncus arteriosus and endocardial cushion defect, hypoplastic lungs and adrenal glands, and vaginal atresia. Fixed brain weight was 330 g. Three different categories of pathological changes were detected in the brain. These were as follows: (1) multiple cyst formation in the parenchyma, (2) primary malformations of the nervous and mesenchymal tissues, and (3) deposition of an unusual substance in the cerebral white matter. The multiple cysts or cavities in the parenchyma may be due to severe hypoxic-ischemic insults related to the congenital heart anomaly. The primary malformations were summarized as follows: (1) capillary telangiectasia of the pia mater and choroid plexus, (2) olfactory dysplasia with asymmetry, (3) focal cortical dysplasia in the frontal lobe and cerebellum, (4) olivary dysplasia, and (5) enlargement of the posterior part of the lateral ventricle. Dysplastic changes of the nervous tissue can be classified into the group of neuronal migration disorders. Although biochemical properties of the unknown substance were not determined, it is considered to be some product derived from an inborn error of metabolism. Morphological data of SRPS is still scarce, and pathognomonic changes have not yet been elucidated. The present data suggests that coexistence of the nervous and mesenchymal malformations may be highly characteristic of SRPS.- - - - - - - - - - ranking = 0.5keywords = white (Clic here for more details about this article) |
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