Home About us Contact
|
Home About us Contact | ||
|
|
||
Female Infant (female + infant)
Selected AbstractsX-Linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findingsPRENATAL DIAGNOSIS, Issue 13 2006Shalini Umranikar Abstract Objective To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight its variable phenotypic presentation. Methods We report the sonographic features of three female fetuses affected with CDPX2. The ultrasound, radiographic and pathological findings were compared. Results Family 1: Two affected pregnancies, both terminated. Fetus 1: Presented with epiphyseal stippling involving the vertebrae, upper and lower limbs, asymmetric shortening of the long bones and flat facial profile. Fetus 2: Prenatal findings included premature epiphyseal stippling, paravertebral cartilaginous calcific foci, mild shortening of the long bones and flat facies. Mutation analysis of the mother and both fetuses revealed mutation in the emopamil-binding protein (EBP) gene. Family 2: Prenatal sonography showed scattered epiphyseal stippling, minimal vertebral segmentation anomalies, mild asymmetric limb shortening and flat facies. Female infant delivered at 39 weeks of gestation. Biochemical analysis in all three fetuses showed increased levels of serum 8(9)-cholestenol consistent with delta (8), delta (7)-isomerase deficiency and CDPX2. Conclusion Prenatal diagnosis of CDPX2 is difficult because of marked phenotypic variation. Epiphyseal stippling, ectopic paravertebral calcifications, asymmetric shortening of long bones and dysmorphic flattened facies are crucial for prenatal diagnosis. DNA analysis of the CDPX2 gene and biochemical determination of the serum 8(9)-cholestenol level are important for diagnosis, especially if future pregnancies are planned. Copyright © 2006 John Wiley & Sons, Ltd. [source] Blueberry muffin rash as a presentation of alveolar cell rhabdomyosarcoma in a neonateACTA PAEDIATRICA, Issue 1 2000SV Godambe Soft tissue sarcomas of childhood continue to present problems with pathologic diagnosis, staging and treatment. Rhabdomyosarcoma, the most common soft tissue sarcoma, represents 4,8% of all malignant solid tumours in children. We report a case of congenital alveolar rhabdomyosarcoma who presented with "blueberry muffin"-like rash. A full-term female infant was noted at birth to have multiple skin lesions resembling blueberry muffin rash and an abdominal mass in the left iliac fossa, which appeared to be fixed to the posterior abdominal wall. There was no enlargement of liver and spleen, but her para-aortic lymph nodes were enlarged. Biopsy from the mass confirmed the diagnosis of alveolar cell rhabdomyosarcoma. Molecular investigation for the t (2:13) translocation was negative. The infant received chemotherapy but died within 1 mo of diagnosis. [source] Deletion of 8p: a report of a child with normal intelligenceDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 12 2001Linda Gilmore PhD The case is presented of a female infant with a distal deletion of 8p (8p23.1,pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p. [source] Occlusion of an Aberrant Artery to a Pulmonary Sequestration Using a Duct OccluderJOURNAL OF INTERVENTIONAL CARDIOLOGY, Issue 5 2002D.C.H., ELLEN CRUSHELL M.D., M.R.C.P.I. This report describes a female infant with a rare chromosome defect, del. 12 (q22-24.1), who has severe pulmonary valve stenosis, an atrial septal defect, and a small muscular ventricular septal defect. At 4 months of age a balloon pulmonary valvuloplasty was performed in the cardiac catheterization laboratory. During the procedure, a large aberrant artery from the aorta to a sequestration of the right lower lobe of lung was found. The flow-off from the sequestration was into a dilated left atrium. The single artery supplying the sequestration was successfully occluded using an Amplatzer Duct Occluder device. There were no complications and the infant remains well at 1-yearfollow-up. [source] Cervical varix with placenta previa totalisJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 4 2007Yukiyo Kumazawa Abstract A cervical varix during pregnancy is a very rare complication. It can lead to hemorrhage and may result in significant morbidity. Furthermore, appropriate management has not yet been established. We present a case of a cervical varix with placenta previa totalis. A 30-year-old woman with placenta previa totalis also had a cervical varix without bleeding. At 32 weeks' gestation, massive hemorrhage from the cervical varix occurred. A vaginal pack controlled the bleeding, and a cesarean section was subsequently carried out because of uncontrollable uterine contractions. A 1655 g female infant was delivered; the estimated blood loss was 1814 mL. The cervical varix decreased dramatically in size. In conclusion, presented herein is a rare case of a cervical varix, which had a successful outcome. [source] Autopsy case of thanatophoric dysplasia: Observations on the serial sections of the brainNEUROPATHOLOGY, Issue 3 2001Katsuyuki Yamaguchi The neuropathological findings in an autopsy case of thanatophoric dysplasia (TD) with serial sections of the brain are described here. This patient was a female infant, born at 33 weeks gestation, who died on day 1. Skeletal anomalies, consisting of short limbs, a small thorax, short ribs, thick cortical vertebral body substance and sternum substance, and hypoplastic lungs, were compatible with typical phenotypic features of TD. The brain weighed 370 g, showing a cloverleaf megalencephaly. A computerized 3-D reconstruction technique visualized clearly abnormal deep sulci arranged perpendicular to the neuraxis on the inferior surface of the temporal lobe, and peculiar configurational changes of the lateral ventricle. In particular, the inferior horn showed an unusual complex form. Dysgenetic changes were largely located in the anterior temporal lobe as follows: cortical polymicrogyria; leptomeningeal heterotopia with discontinuity of the subpial basement membrane; serpentine arrangement of pyramidal cells of the cornu ammonis (CA)1 of the hippocampus; hypoplastic dentate gyrus; hyperplasia of the amygdaloid body; and heterotopic nodules of neuroblasts or glioblasts in the periventricular white matter. Apart from the temporal lobe, the cerebral pia mater showed unusual fusion of two facing sheets in a sulcus and ectopia of nerve cells, and the cerebellar vermis was small. The findings observed here indicate that overgrowth and lack of growth can coexist in the TD brain, suggesting that some interaction(s) between the mesenchyme and the nervous tissue may play a role in normal differentiation of these two cell lines. [source] The influence of maternal cigarette smoking, snuff use and passive smoking on pregnancy outcomes: the Birth To Ten StudyPAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 2 2006Krisela Steyn Summary Steyn K, de Wet T, Saloojee Y, Nel H, Yach D. The influence of maternal cigarette smoking, snuff use and passive smoking on pregnancy outcomes: the Birth To Ten Study. Paediatric and Perinatal Epidemiology 2006; 20: 90,99. This article describes the patterns and effects of maternal snuff use, cigarette smoking and exposure to environmental tobacco smoke during pregnancy on birthweight and gestational age, in women living in Johannesburg and Soweto in 1990. A cohort of 1593 women with singleton live births provided information about their own and household members' usage of tobacco products during pregnancy. The women completed a questionnaire while attending antenatal services. Data on gestational age and birthweight were obtained from birth records. Women who smoked cigarettes or used snuff during pregnancy accounted for 6.1% and 7.5% of the study population respectively. The mean birthweight of non-tobacco users was 3148 g [95% CI 3123, 3173] and that of the smokers 2982 g [95% CI 2875, 3090], resulting in a significantly lower mean birthweight of 165 g for babies of smoking mothers (P = 0.005). In contrast, women using snuff gave birth to infants with a mean birthweight of 3118 g [95% CI 3043, 3192], which is a non-significant (P = 0.52) decrease (29.4 g) in their infants' birthweights compared with those not using tobacco. A linear regression analysis identified short gestational age, female infant, a mother without hypertension during pregnancy, coloured (mixed racial ancestry), and Asian infants compared with black infants, lower parity, less than 12 years of education and smoking cigarettes as significant predictors of low birthweight, while the use of snuff during pregnancy was not associated with low birthweight. The snuff users, however, had a significant shorter gestational age than the other two groups of women. The birthweight reduction adjusted for possible confounders was 137 g [95% CI 26.6, 247.3 (P = 0.015)] for cigarette smokers and 17.1 g [95% CI ,69.5, ,102.7, P = 0.69] for snuff users respectively, compared with the birthweight of non-tobacco users. Among women who did not smoke cigarettes or use snuff, exposure to environmental tobacco smoke did not result in significant effects on the birthweight of their infants. In conclusion, infants of cigarette smokers had significantly lower birthweights than those of non-tobacco users or snuff users who are exposed to nicotine during pregnancy. Passive smoking did not affect birthweight significantly in this population. [source] Mesenchymal dysplasia of the placentaPATHOLOGY INTERNATIONAL, Issue 9 2000Makiko Ohyama A severe case of placental mesenchymal dysplasia occurred in association with intrauterine fetal death (IUFD). The gravida-1, para-1 mother was a 26-year-old Japanese. The first pregnancy was unremarkable and a healthy female infant was delivered. The present pregnancy had been uneventful until 34 weeks of gestation when IUFD was detected. The 1516-g (mean ± SD, 2050 ± 387 g) stillborn infant had no external abnormalities and the karyotype was 46,XX. The placenta was markedly enlarged (1050 g; mean ± SD, 452 ± 202 g), and approximately 80% was occupied by extraordinary enlarged villous structures with a myxoid appearance. Histologically, the dysplastic villi had myxoid stroma and a decreased number of, occasionally obliterated, fetal vessels. There was no abnormal trophoblastic proliferation. Large-sized fetal vessels in the chorionic plate frequently contained organized thrombi. This is the first case of placental mesenchymal dysplasia, which possibly lead to the IUFD. [source] Exomphalos , a major or minor problem?PEDIATRIC ANESTHESIA, Issue 9 2002T. O'Neill Introduction The mortality and morbidity statistics associated with exomphalos major remain discouraging despite advances in management techniques (1). Congenital lung pathology, in particular pulmonary hypoplasia, and thoracic maldevelopment, have been strongly allied to this condition, accounting for the high incidence of pulmonary insufficiency necessitating prolonged ventilatory support in these infants (2). We discuss the respiratory issues in an infant with a particularly severe form of exomphalos major, and the impact of a comprehensive parental website devoted to the infants' management and progress. Case Report A female infant, born at 38 weeks' gestation, was referred for management of exomphalos major. Due to the extensive nature of the abdominal wall defect, primary surgical closure was impossible and initial management consisted of staged reduction by external compression of the exomphalos. This resulted in escalating cardiovascular and respiratory embarrassment, and was abandoned in favour of conservative treatment, whereby the sac was dressed and allowed to epithelialise. Thereafter the clinical course was characterised by chronic pulmonary insufficiency requiring prolonged ventilatory support. Ventilator dependence did not significantly decrease until lung growth occurred and the sitting position was adopted, enabling weaning from conventional ventilation to genuine BIPAP at 6 months. Currently, after 11 months, we are preparing her for entry into a home ventilation programme. Throughout this period, progress and realistic goals were discussed at multidisciplinary case conferences involving the parents. The interpreted medical management has subsequently been displayed by the parents on an elaborate, up-to-date website, which is part of a larger ,Mother Of Omphalocele' network. Although innovative, this highlights the fact that we the medical profession, should be vigilant with regard to potential public exposure of patient management. Whilst the Internet has become an integral part of our own continuing education, this case highlights a new aspect of how it may be used by our patients and their relatives to compare and contrast management policies in various institutions. [source] Cutis Marmorata Telangiectatica Congenita and Neonatal LupusPEDIATRIC DERMATOLOGY, Issue 3 2007CAROLINE E. HEUGHAN M.D. We describe a female infant with vascular lesions consistent with this entity who was born to a mother with previously diagnosed systemic lupus erythematosus. Antinuclear antibodies and anti-Ro/SSA antibodies were detected in both mother and infant, supporting a diagnosis of neonatal lupus. This presentation is consistent with the rarely reported association between neonatal lupus and cutis marmorata telangiectatica congenita that suggests the latter is part of the cutaneous spectrum of the former. A thorough maternal history and laboratory investigations should be considered for infants with cutis marmorata telangiectatica congenita and their mothers in order to rule out the presence of an underlying autoimmune disease. [source] Lymphoid bronchiolitis presenting at birth in an immunocompetent child: Chronic interstitial lung disease of unknown aetiologyPEDIATRIC PULMONOLOGY, Issue 6 2009Malcolm Brodlie MB ChB Abstract A female infant presented at birth with respiratory distress, which was subsequently shown to be secondary to lymphoid bronchiolitis, an exceptionally rare condition in childhood. Over the following 13 years there has been a slow progressive deterioration in her respiratory status with forced expiratory volume in 1 sec currently 40% predicted. Tests for connective tissue disease, infection, or immunodeficiency have all been negative and in the absence of any other explanation we postulate that this severe problem may have occurred as a consequence of an unrecognized intrauterine infection. Pediatr Pulmonol. 2009; 44:622,624. © 2009 Wiley-Liss, Inc. [source] Acute respiratory distress syndrome by cytomegalovirus infection in an immunocompetent infantPEDIATRIC PULMONOLOGY, Issue 8 2008Jungi Choi MD Abstract A 2-month-old female infant was admitted with progressive respiratory distress, fever, and diagnosed with acute respiratory distress syndrome (ARDS). The primary pulmonary pathogen was proven to be cytomegalovirus (CMV) from bronchoalveolar lavage fluid, urine, and blood specimens. Other immunologic findings were normal. CMV-induced ARDS has not been reported previously in immunocompetent infants. Pediatr Pulmonol. 2008; 43:824,827. © 2008 Wiley-Liss, Inc. [source] Novel approach to the eradication of Pseudomonas aeruginosa in an infant with CF after outpatient treatment failure,PEDIATRIC PULMONOLOGY, Issue 5 2008Don Hayes Jr. MD Abstract Intravenous continuous infusion of betalactam (CIBL) antibiotic and high dose extended interval (HDEI) aminoglycoside therapy theoretically maximize bacterial killing in treatment of Pseudomonas aeruginosa (PsA) in pulmonary exacerbations of cystic fibrosis (CF). We present the case of a 3-month-old female infant with CF who failed outpatient eradication of PsA with subsequent eradication using intravenous CIBL antibiotic and HDEI aminoglycoside therapy. This antibiotic combination should be considered in order to optimize pharmacodynamics for PsA eradication in CF patients before development of chronic colonization. Pediatr Pulmonol. 2008; 43:511,513. © 2008 Wiley-Liss, Inc. [source] A female infant with a 46,XX/48,XY,+8,+10,karyotype in prenatal diagnosis: a ,vanishing twin' phenomenon?PRENATAL DIAGNOSIS, Issue 10 2001E. Lloveras No abstract is available for this article. [source] Smith-Lemli-Opitz syndrome: New mutation with a mild phenotypeAMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2002Chitra Prasad Abstract Smith-Lemli-Opitz syndrome (SLOS) (Online Mendelian Inheritance in Man, OMIMÔ, 2001, http://www.ncbi.nlm.nih.gov/omim/ for SLOS, MIM 270400) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations of the 3,-hydroxysterol ,7 -reductase gene, DHCR7. We report on a female infant with an exceptionally mild phenotype of SLOS, in whom molecular studies identified a new mutation in DHCR7. The proposita initially presented with feeding difficulties, failure to thrive, hypotonia, mild developmental delay, and oral tactile aversion. She had minor facial anomalies and 2,3 syndactyly of her toes in both feet. The plasma cholesterol was borderline low at 2.88 mmol/L (normal 2.97,4.40 mmol/L). Elevated plasma 7-dehydrocholesterol level of 200.0 ,mol/L confirmed the clinical diagnosis of SLOS. Molecular analysis demonstrated compound heterozygosity for IVS8-1G ,C and Y280C, a new missense mutation in DHCR7. Since the other mutation in this patient is a known null mutation, this newly discovered mutation is presumably associated with significant residual enzyme activity and milder expression of clinical phenotype. © 2002 Wiley-Liss, Inc. [source] Hypoplastic left heart in a female infant with partial trisomy 4q due to de novo 4;21 translocationAMERICAN JOURNAL OF MEDICAL GENETICS, Issue 4 2002Milen Velinov Abstract We present a female infant with mild dysmorphic features and congenital heart defect: hypoplastic left heart with aortic atresia and hypoplastic aortic arch, ventricular septal defect, and a nonrestrictive atrial communication. Chromosome analysis showed an unbalanced translocation that contained additional material from 4q translocated onto 21q. This resulted in partial trisomy 4 and monosomy for the 21q telomeric region. The derivative chromosome was characterized using G-banding, M-FISH, and whole chromosome painting. The karyotype was described as 46,XX,der(21)t(4;21)(q25;q22.3).ish(wcp4+;wcp21+). Additional analyses with FISH probes specific for 21q 22.3, 21q22.2, 21q21.1, and 21q11.2 did not indicate any chromosome 21 duplication within the derivative chromosome 21. Monosomy for the telomeric portion of 21q was demonstrated using a tel 21q probe (Oncor). The patient underwent stage 1 Norwood procedure to manage her heart defect. Poor feeding and failure to thrive complicated the postsurgical period. The child subsequently underwent funduplication and feeding tube placement, and at 4.5 months of age presented with microcephaly and developmental delay. Hypoplastic left heart was previously reported with increased frequency in relatively common numeric chromosomal aberrations, such as monosomy X, trisomies 21, 18, and 13, and in various structural chromosomal defects. Our report presents new evidence for the co-occurrence of hypoplastic left heart with a duplicated portion of chromosome 4 distal to 4q25. In addition, monosomy for the telomeric region of chromosome 21 may have implications in the phenotype. © 2001 Wiley-Liss, Inc. [source] Juvenile-onset hypergammaglobulinemic purpura and fetal congenital heart blockTHE JOURNAL OF DERMATOLOGY, Issue 10 2006Maki MAEDA-TANAKA ABSTRACT Waldenström's hypergammaglobulinemic purpura (HGP) is a rare chronic disorder characterized by recurrent purpura on the legs, a polyclonal increase in serum ,-globulin, an elevated erythrocyte sedimentation rate and a positive rheumatoid factor. A 30-year-old primigravid woman with 14 years of HGP was found to have fetal bradycardia at 25 weeks' gestation. Laboratory investigations demonstrated positive anti-Ro/SSA and anti-La/SSB antibodies in the maternal serum. Cesarean delivery was performed at 39 weeks, and a 2750-g female infant was born with complete atrioventricular block. Fortunately, the neonatal period has been uneventful without need for pace-making. Maternal HGP exacerbated just after delivery, but resolved within 1 week without treatment. Physicians should be aware of the possible presence of neonatal lupus-related anti-Ro/SSA and anti-La/SSB autoantibodies in patients with HGP. Screening for these autoantibodies is important and could be used as a marker to identify and manage high-risk pregnancies. [source] Unusual presentation of GLUT-1 positive infantile haemangiomaAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 2 2009Clare Koh ABSTRACT Infantile haemangiomas are usually not present at birth. This is a case of a female infant with an atypical congenital vascular tumour present at birth which ulcerated in the first few days of life, involuted over several months and showed histopathological features in keeping with either an involuting GLUT-1 positive infantile haemangioma or a reticular haemangioma of infancy. The initial clinical presentation was atypical for an infantile haemangiomas and for a congenital haemangioma, however the histopathology and immunohistochemistry assisted with confirmation of the diagnosis. Vacuum-assisted closure (VAC) therapy aided in the complete healing of the ulcerated infantile haemangioma which was not achievable with conventional dressings. [source] Recurrence of breech presentation in consecutive pregnanciesBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 7 2010JB Ford Please cite this paper as: Ford J, Roberts C, Nassar N, Giles W, Morris J. Recurrence of breech presentation in consecutive pregnancies. BJOG 2010;117:830,836. Objective, To investigate the recurrence risk of breech presentation at term, and to assess the risk factors that contribute to its recurrence. Design, Cohort study. Setting, New South Wales, Australia. Population, Women with their first two (n = 113 854) and first three (n = 21 690) consecutive singleton term pregnancies, in the period 1994,2002. Methods, Descriptive statistics including rates, relative risks and adjusted relative risks, as determined from logistic regression and Poisson analyses. Main outcome measures, Rates and risks of occurrence and recurrence of breech presentation at birth in each pregnancy, and maternal and infant risk factors associated with breech recurrence. Results, First-time breech presentation at term occurred in 4.2% of first pregnancy deliveries, 2.2% of second pregnancies and 1.9% of third pregnancies. The rate of breech recurrence in a second consecutive pregnancy was 9.9%, and in a third consecutive pregnancy (after two prior breech deliveries) was 27.5%. The relative risk of breech recurrence in a second pregnancy was 3.2 (95% CI 2.8,3.6), and in a third consecutive breech pregnancy was 13.9 (95% CI 8.8,22.1). First pregnancy factors associated with recurrence included placenta praevia [adjusted relative risk (aRR) 2.2; 95% CI 1.3,3.7], maternal diabetes (aRR 1.4; 95% CI 1.0,2.1) and a maternal age of ,35 years (aRR 1.2; 95% CI 0.9,1.6). Second pregnancy factors included birth defects (aRR 2.5; 95% CI 1.4,4.2), placenta praevia (aRR 2.5; 95% CI 1.5,4.1) and a female infant (aRR 1.2; 95% CI 1.0,1.5). Conclusions, The increased recurrence risk of breech presentations suggests that women with a history of breech delivery should be closely monitored in the latter stages of pregnancy. [source] The sex ratio of pregnancies complicated by hospitalisation for hyperemesis gravidarumBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 1 2004Melissa A. Schiff Objective To evaluate the sex ratio among pregnancies complicated by first trimester hyperemesis gravidarum and extend previous findings to include a measure of severity. Design Population-based case control study. Setting All non-federal hospitals in Washington State. Population Two thousand and one hundred and ten pregnant women hospitalised for hyperemesis gravidarum and 9783 pregnant women without hyperemesis gravidarum. Methods The infant sex ratio for pregnant women admitted to the hospital for hyperemesis gravidarum was evaluated using the Washington State hospital discharge database linked to the birth certificate database for years 1987,1996. Cases were pregnant women hospitalised for hyperemesis gravidarum (International Classification for Diseases,9th edition [ICD-9] diagnosis code 643) in the first trimester. Controls were women who experienced a singleton live birth and were not hospitalised for hyperemesis in Washington State during the same time period. Regression analysis with general estimating equations was used to calculate an odds ratio (OR) and 95% confidence interval (CI) to assess the association of hyperemesis gravidarum with infant sex ratio. Main outcome measure Infant sex ratio. Results Pregnant women hospitalised for hyperemesis gravidarum in the first trimester had a 50% increased odds of having a female infant compared with controls (OR 1.5, 95% CI 1.4, 1.7). Women hospitalised for three or more days had the greatest odds of having a female infant compared with control women (OR 1.8, 95% CI 1.5, 2.0). Conclusion Hyperemesis gravidarum is associated with an increase in female live births and may be a marker for high oestrogen levels in utero. [source] Arteriovenous fistula of the vertebral artery in a female infant with hypotonia and cephalocorporal disproportionACTA PAEDIATRICA, Issue 9 2010F Núñez Abstract Background:, Congenital arteriovenous fistulas are exceptional in childhood and imply a therapeutic challenge. Case report: A 9-month-old female infant was studied for cephalocorporal disproportion, hypotonia, progressive muscular atrophy and hyperreflexia. Computed tomography of the brain and electroencephalography were normal. Electromyographic patterns suggested proximal myopathic involvement. A continuous murmur with systolic reinforcement was audible in the neck. Angioresonance detected intracranial aneurysmal dilatations behind the bulbo-medullary junction and cerebral panangiography evidenced a direct vertebrovertebral fistula with extra- and intra-cranial varices and extreme medullary compression. Occlusion of the afferent vessel to the aneurismal sack was successfully achieved with a mixture of Histoacryl and 75% lipiodol via a microcatheter. Conclusion:, Clinical signs of an arteriovenous fistula may be atypical. Considerable cephalocorporal disproportion and a bruit in the cervical or retromastoidal regions must suggest its existence. Complete obliteration with endovascular embolization permits somatic and neurological recovery. [source] Aicardi,Goutières syndrome presenting with haematemesis in infancyACTA PAEDIATRICA, Issue 12 2009D Hall Abstract Aicardi,Goutières syndrome is a genetic childhood encephalopathy characterized by basal ganglia calcification, chronic cerebrospinal lymphocytosis and elevated cerebrospinal fluid interferon-alpha, mimicking acquired congenital viral infections. As more is discovered about the pathogenesis of Aicardi,Goutières, it is becoming evident that a dysfunction of the immune system is likely to be responsible for the disease phenotype. We describe a previously healthy 2-month-old female infant who presented with haematemesis and seizures and was subsequently diagnosed with Aicardi,Goutières syndrome. To our knowledge, this is the first documented case of Aicardi,Goutières syndrome presenting with haematemesis. The gastrointestinal tract is an area of high cell loss, revealing early signs of systemic inflammation and we postulate that a systemic proinflammatory milieu occurs in Aicardi,Goutières syndrome. Conclusion: Aicardi,Goutières syndrome can present with haematemesis, adding to the growing evidence that the Aicardi,Goutières syndrome spectrum encompasses an immune-mediated multisystem involvement. Gastrointestinal inflammation should also be considered in these patients and treated appropriately. [source] Progressive stridor: could it be a congenital cystic lung disease?ACTA PAEDIATRICA, Issue 9 2009M Zedan Abstract Bronchogenic cyst of the mediastinum, a cause of stridor early in life, is the result of abnormal budding of the ventral segment of the primitive foregut. Bronchogenic cysts are often asymptomatic in older children and adults. However, symptomatic cases usually manifest early in life with cough, stridor or wheezing due to airway compression. We report a female infant aged 4.5 months with a normal full-term pregnancy, who developed respiratory distress with stridor. This stridor was preceded by a history of slowly progressive noisy breathing. Physical examination revealed evidence of bilateral obstructive emphysema. Chest radiograph revealed bilateral overinflation. Fibro-optic bronchoscopy revealed posterior mediastinal compression. Possibility of congenital cystic lung disease (CCLD) was considered, emphasizing the value of computed tomography (CT) chest, which revealed a cyst probably bronchogenic. Surgical excision was performed with evident histological confirmation of bronchogenic cyst. Conclusion:, we highlight that in any infant, presented with slowly progressive noisy breathing in the first year of life, CCLD should be considered in the differential diagnosis even with normal X-ray chest. CT chest should be performed for exclusion or diagnosis of the case. [source] Combined pituitary hormone deficiency in Australian children: clinical and genetic correlatesCLINICAL ENDOCRINOLOGY, Issue 6 2003Kim McLennan Summary objective Mutations in the gene for the POU domain transcription factor POU1F1 (human Pit-1) have been reported in patients with GH, TSH and PRL deficiencies. PROP1 (Prophet of Pit-1) gene mutations also cause gonadotrophin deficiencies and in some cases partial ACTH deficiency. This study analyses the POU1F1 and PROP1 genes in a cohort of Australian children with combined pituitary hormone deficiency (CPHD) and correlates results with patient phenotype. patients and design Genomic analysis was carried out on 33 patients with CPHD referred from centres around Australia. Clinical data were collected from medical records and referring physicans. resultsPOU1F1 mutations were identified in two of four patients with a suggestive phenotype. In a female patient, novel compound heterozygous POU1F1 mutations were identified: Arg143Leu in exon 3 and Leu194Gln in exon 4. This patient presented with failure to thrive at 6 weeks of age and has deficiencies of TSH and GH. A previously described heterozygous Arg271Trp mutation in exon 6 of the POU1F1 gene was identified in a female infant who presented with growth failure and was diagnosed with TSH then GH deficiencies. No PROP1 mutations were identified; however, we describe a number of previously unreported PROP1 polymorphisms. No patients presenting with deficiencies of all anterior pituitary hormones early in life had POU1F1 or PROP1 gene mutations. conclusions In 33 Australian children with CPHD we have identified POU1F1 mutations in two patients and no PROP1 mutations. We speculate that in the majority of children other genes must be responsible for the CPHD phenotype. [source] Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiencyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 7 2010BERNHARD SCHMITT Aim, We report on seizures, paroxysmal events, and electroencephalogram (EEG) findings in four female infants with pyridoxine-dependent epilepsy (PDE) and in one female with pyridoxine phosphate oxidase deficiency (PNPO). Method, Videos and EEGs were analysed and compared with videos of seizures and paroxysmal events archived from 140 neonates. PDE and PNPO were proven by complete control of seizures once pyridoxine or pyridoxal 5,-phosphate was administered and by recurrence when withdrawn. Mutations in the antiquitin gene were found in three patients and in the PNPO gene in one child. Results, Seizures began within 48 hours after birth in four newborns and at age 3 weeks in one. Frequent multifocal and generalized myoclonic jerks, often intermixed with tonic symptoms, abnormal eye movement, grimacing, or irritability, were observed in all infants with PDE and PNPO, but rarely in the other archived videos of neonates. EEGs were inconstant and frequently no discernable ictal changes were recorded during the seizures and the paroxysmal events. In addition, interictal EEGs were inconclusive, with normal and abnormal recordings. In older children tonic,clonic seizures, abnormal behaviour, inconsolable crying, frightened facial expression, sleep disturbance, loss of consciousness, paraesthesia, or intermittent visual symptoms were described during controlled and uncontrolled withdrawal or insufficient dosage. Interpretation, PDE or PNPO should be considered in infants with prolonged episodes of mixed multifocal myoclonic tonic symptoms, notably when associated with grimacing and abnormal eye movements. [source] Pattern-reversal visual evoked potentials in infants: gender differences during early visual maturationDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2002CA Malcolm BScN RN RGN This paper investigates gender differences in the peak latency and amplitude of the P1 component of the pattern-reversal visual evoked potential (pattern-reversal VEP) recorded in healthy term infants. Pattern-reversal VEPs in response to a series of high contrast black and white checks (check widths 120,, 60,, 30,, 24,, 12,, 6,) were recorded in 50 infants (20 males, 30 females) at 50 weeks post-conceptional age (PCA) and in 49 infants (22 males, 27 females) at 66 weeks PCA. Peak latency of the major component, P1, was considerably shorter in female compared with male infants. Differences in head circumference do not entirely account for the gender differences in peak latency reported here. A gender difference in P1 amplitude was not detected. These findings stress the importance of considering gender norms as well as age-matched norms when utilizing the pattern-reversal VEP in clinical investigations. Studies including a wider range of ages are clearly necessary in order to establish whether the earlier peak latencies in female infants represents a difference in the onset or rate of visual maturation. [source] Impact of mother interactive style on infant affect among babies exposed to alcohol in uteroINFANT MENTAL HEALTH JOURNAL, Issue 4 2006Jean Lowe This study examined the ability of infants prenatally exposed to alcohol to regulate their affect during and after a stressor. Specifically, the Still-Face Paradigm (Tronick, Als, Adamson, Wise, ' Brazelton, 1978) was used as a stress induction paradigm to assess both mother-infant interaction and infant self-regulation. In addition to the mothers' interactive style, the effect of mothers' drinking during and after pregnancy on the infant was explored. Participants were 76 six-month-old infants and their mothers. Infant affect and maternal interaction style was coded second-by-second for the 6 min of the Still-Face Paradigm. Results indicated that infants whose mothers made fewer attempts at engaging them during the play portion of the still-face (e.g., either watched their infant or paid minimal attention to their infant) showed greater negative affect in contrast to infants whose mothers played in an interactive manner. A gender effect was found among female infants. That is, female infants whose mothers drank more during pregnancy showed greater negative affect. The study demonstrates the possibility of early identification of negativity in infants with prenatal alcohol exposure. The impact of mother-child relationship on emotional regulation of infants prenatally alcohol exposed may be a target of future intervention and further study. [source] The characteristics and outcome of primary vesicoureteric reflux diagnosed in the first year of lifeINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 7 2006F. Papachristou Summary A retrospective trial was performed to study presentation, evaluation, management, complications and outcome of 186 infants with vesicoureteral reflux (VUR). Medical records of 103 male and 83 female infants with mean age at entry 5.97 months were reviewed. Diagnosis was established using radiographic voiding cystourethrogram. At diagnosis, a renal ultrasound and dimercaptosuccinic acid renal scintigraphy were performed in all children. The follow-up included blood pressure measurements, serial urine cultures, haematological and biochemical tests, radionuclide cystography, renal ultrasounds and renal scintigraphy. The majority of infants with reflux, 176/186, presented with one or more episodes of urinary tract infections. In 113 children, reflux resolved spontaneously, 27 underwent surgical or endoscopic correction and 46 are being followed-up to date. Spontaneous resolution after prophylaxis was more frequent in boys (p < 0.0001), in children with grade I or II (p < 0.0001) and unilateral reflux at diagnosis (p = 0.0215). No significant difference could be established with respect to the presence of scars (p = 0.1680) and the number of breakthrough urinary tract infections (p = 0.1078). The data of the present study indicate that spontaneous resolution rate is high in infants, and therefore, early antireflux surgery should be avoided. [source] The Role of Environmental Factors in the Causation of Sudden Death in Infants: Two Cases of Sudden Unexpected Death in Two Unrelated Infants Who Were Cared for by the Same BabysitterJOURNAL OF FORENSIC SCIENCES, Issue 6 2007Bennet I. Omalu M.D., M.P.H. Abstract:, We report two cases of sudden unexpected death in two unrelated African American female infants, 2 months and 4 months old. Both infants were attended to by the same babysitter in the same apartment and died 39 days apart in the same bed and in the same bedroom. The autopsy of the first infant revealed sudden unexplained death in an infant. Toxicologic analysis for carbon monoxide (CO) was not performed because it was not suspected. When the second infant died, investigation into the ambient air quality within the apartment revealed high levels of CO emanating from a poorly ventilated and defective hot water heater, which was located across a hallway from the bedroom where the two babies died. CO saturation levels in the postmortem blood samples of the two babies were elevated and were similar (13% and 14%). Nicotine and cotinine were not detected in the blood sample of the two infants. Cherry-red livor mortis was absent. Acute CO intoxication was determined to be the underlying cause of these two unexpected deaths. These two cases underscore the need to integrate ambient air analysis and postmortem CO analysis as routine components of the comprehensive death investigation of infants who die suddenly and unexpectedly. [source] Determinants of termination of breastfeeding within the first 2 years of life in India: evidence from the National Family Health Survey-2MATERNAL & CHILD NUTRITION, Issue 3 2008Rahul Malhotra Abstract The present study assesses socio-demographic and health service determinants of termination of breastfeeding within the first 2 years of life in India by analysing data from the nationally representative National Family Health Survey-2 using Cox regression modelling techniques. While the likelihood of stopping breastfeeding increased with increasing household wealth status, it declined with increasing maternal age at childbirth. The likelihood of stopping breastfeeding was significantly higher among female children compared with male children, and the gender differential was attenuated by increasing maternal educational status. Overall, findings of the present study suggest that breastfeeding promotion programmes in India should focus on certain high-risk mother,child pairs such as female infants, first-born babies, babies born in the private sector and in urban areas, as well as mothers who are literate, have a higher wealth status, are aged less than 20 years and belong to Sikh or Christian communities. Qualitative studies to understand cultural factors or norms and causal pathways responsible for the association of identified factors and early termination of breastfeeding, especially household wealth status and maternal education, are also called for. [source] | ||||||||||||||||||||||||||||