Pub Date : 2017-01-01DOI: 10.4172/2167-0897.1000260
S. Ng, J. Drury, Swathi Upradrasta, M. Weindling, M. Turner
Background: In the neonatal period, cortisol concentrations are expected to increase during significant stress and are important for survival. Extreme preterm infants may develop adrenal insufficiency in the early neonatal period. Cortisol is 90% bound to cortisol binding globulins (CBG) in the circulation; therefore measurements of plasma cortisol can be compromised by conditions that alter CBG levels. Measurement of free cortisol is the best indicator of adrenal glucocorticoid secretion and can be determined in the saliva. Few studies have been reported on salivary cortisol determination in the neonatal period and particularly, extremely premature infants. Methods: There were 65 infants (36 males). Mean gestation 25.3 ± 1.3 weeks. We obtained early morning plasma and salivary cortisol sampling before day 5 of postnatal age from extremely premature babies less than 28 weeks gestation. Saliva was obtained using 4 standard universal swabs by placing one swab at a time in the infant's mouth for 1-2 min. No salivary stimulants were used. Salivary cortisol was measured by competitive ELISA using a commercially available kit SLV-2930 (DRG, Germany) according to the manufacturer's instructions. Plasma cortisol was measured using DPC Immulite 2000 using a solid phase 2 site chemiluminescent immunometric assay. Results: Mean plasma cortisol levels were 400 nmol/L ± 42.8 SEM, and mean salivary cortisol levels were 127.5 nmol/L ± 66.5 SEM. Plasma cortisol was positively correlated with salivary cortisol (r=0.41, p<0.001). Conclusion: The study showed a reasonable correlation between salivary and plasma cortisol concentrations obtained early in the morning in the extremely preterm infants.
{"title":"Correlation of Plasma and Salivary Cortisol in Extremely Premature Infants","authors":"S. Ng, J. Drury, Swathi Upradrasta, M. Weindling, M. Turner","doi":"10.4172/2167-0897.1000260","DOIUrl":"https://doi.org/10.4172/2167-0897.1000260","url":null,"abstract":"Background: In the neonatal period, cortisol concentrations are expected to increase during significant stress and are important for survival. Extreme preterm infants may develop adrenal insufficiency in the early neonatal period. Cortisol is 90% bound to cortisol binding globulins (CBG) in the circulation; therefore measurements of plasma cortisol can be compromised by conditions that alter CBG levels. Measurement of free cortisol is the best indicator of adrenal glucocorticoid secretion and can be determined in the saliva. Few studies have been reported on salivary cortisol determination in the neonatal period and particularly, extremely premature infants. Methods: There were 65 infants (36 males). Mean gestation 25.3 ± 1.3 weeks. We obtained early morning plasma and salivary cortisol sampling before day 5 of postnatal age from extremely premature babies less than 28 weeks gestation. Saliva was obtained using 4 standard universal swabs by placing one swab at a time in the infant's mouth for 1-2 min. No salivary stimulants were used. Salivary cortisol was measured by competitive ELISA using a commercially available kit SLV-2930 (DRG, Germany) according to the manufacturer's instructions. Plasma cortisol was measured using DPC Immulite 2000 using a solid phase 2 site chemiluminescent immunometric assay. Results: Mean plasma cortisol levels were 400 nmol/L ± 42.8 SEM, and mean salivary cortisol levels were 127.5 nmol/L ± 66.5 SEM. Plasma cortisol was positively correlated with salivary cortisol (r=0.41, p<0.001). Conclusion: The study showed a reasonable correlation between salivary and plasma cortisol concentrations obtained early in the morning in the extremely preterm infants.","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"6 1","pages":"1-4"},"PeriodicalIF":0.0,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2167-0897.1000260","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-31DOI: 10.4172/2167-0897.1000242
K. Salameh, Shaimaa A. Fadl, S. Badr, H. A. Kamel, L. Habboub
Aim: To assess the usefulness of postnatal renal ultrasound in newborns with isolated external ear anomalies in the presence of a normal renal ultrasound on the routine surveillance prenatal ultrasound. Study design: 80 consecutive patients with isolated minor ear anomalies were collected retrospectively starting from December 2008 till February 2011; the prevalence of renal anomalies detected in postnatal ultrasound in those patients was compared with that detected in prenatal ultrasound. Results: Our study included only 64 patients with isolated minor ear anomalies who have prenatal and postnatal ultrasound while 16 patients were excluded (14 patients with no recorded data regarding the prenatal ultrasound, one patient with associated imperforate anus and another patient with unilateral undescended testes). Out of the 64 patients, only one patient was reported to have unilateral pyelactasis in prenatal ultrasound but was reported to be normal on postnatal ultrasound. Otherwise all prenatal renal ultrasound findings were normal on both the prenatal and postnatal renal ultrasound findings. Conclusion: There is no difference in the detection of renal anomalies between postnatal renal ultrasound in infants with isolated minor ear anomalies compared with that found on routine prenatal ultrasound.
{"title":"A Comparative Study between Pre-Natal and Post-Natal Screening Ultrasound in Detection of Renal Anomalies in Neonates with Isolated Minor Ear Anomalies","authors":"K. Salameh, Shaimaa A. Fadl, S. Badr, H. A. Kamel, L. Habboub","doi":"10.4172/2167-0897.1000242","DOIUrl":"https://doi.org/10.4172/2167-0897.1000242","url":null,"abstract":"Aim: To assess the usefulness of postnatal renal ultrasound in newborns with isolated external ear anomalies in the presence of a normal renal ultrasound on the routine surveillance prenatal ultrasound. Study design: 80 consecutive patients with isolated minor ear anomalies were collected retrospectively starting from December 2008 till February 2011; the prevalence of renal anomalies detected in postnatal ultrasound in those patients was compared with that detected in prenatal ultrasound. Results: Our study included only 64 patients with isolated minor ear anomalies who have prenatal and postnatal ultrasound while 16 patients were excluded (14 patients with no recorded data regarding the prenatal ultrasound, one patient with associated imperforate anus and another patient with unilateral undescended testes). Out of the 64 patients, only one patient was reported to have unilateral pyelactasis in prenatal ultrasound but was reported to be normal on postnatal ultrasound. Otherwise all prenatal renal ultrasound findings were normal on both the prenatal and postnatal renal ultrasound findings. Conclusion: There is no difference in the detection of renal anomalies between postnatal renal ultrasound in infants with isolated minor ear anomalies compared with that found on routine prenatal ultrasound.","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-12-07DOI: 10.4172/2167-0897.1000241
Y. Hur, M. Chung
Background: The aims of this study were to determine prognostic factors and to devise a new scoring system for neurodevelopmental outcomes in infants with neonatal seizures. Methods: A retrospective review of medical records was performed for infants treated for neonatal seizures from March 2010 to December 2015 at the neonatal intensive care unit at Haeundae Paik Hospital. Neurologic outcomes were assessed at the post-conceptional age of 24 months. To assess the risk factors associated with poor neurologic outcomes, various factors including clinical characteristics, EEG findings, and the results from neuroimaging work-ups were analyzed with univariate and multiple logistic regression analyses (SPSS version 18.0). Results: Of the 174 enrolled infants, 57 (32.8%) showed abnormal neurologic outcomes. Seven potential predictors of adverse outcomes, selected by binary logistic regression analysis, were used to devise a scoring system. These included birth weight, time of onset, EEG findings, neuroimaging results, seizure type and severity and etiology. The variables were assigned binary scores with a total arithmetic composite score ranging from 0 to 7. A cutoff score of ≥ 3 provided the greatest sensitivity and specificity. Normalization or persistent normal findings at follow-up EEG within 3 months after seizure on-set were also associated with neurologic outcomes (p<0.05). Conclusion: We propose scoring system uses seven variables to provide early prognostic information on unfavorable neurodevelopmental outcomes in infants with neonatal seizures and reliably predicts long-term neurologic outcomes at the time of seizure onset.
{"title":"Risk Factor Analysis and Scoring System for Neurodevelopmental Outcomes after Neonatal Seizures","authors":"Y. Hur, M. Chung","doi":"10.4172/2167-0897.1000241","DOIUrl":"https://doi.org/10.4172/2167-0897.1000241","url":null,"abstract":"Background: The aims of this study were to determine prognostic factors and to devise a new scoring system for neurodevelopmental outcomes in infants with neonatal seizures. Methods: A retrospective review of medical records was performed for infants treated for neonatal seizures from March 2010 to December 2015 at the neonatal intensive care unit at Haeundae Paik Hospital. Neurologic outcomes were assessed at the post-conceptional age of 24 months. To assess the risk factors associated with poor neurologic outcomes, various factors including clinical characteristics, EEG findings, and the results from neuroimaging work-ups were analyzed with univariate and multiple logistic regression analyses (SPSS version 18.0). Results: Of the 174 enrolled infants, 57 (32.8%) showed abnormal neurologic outcomes. Seven potential predictors of adverse outcomes, selected by binary logistic regression analysis, were used to devise a scoring system. These included birth weight, time of onset, EEG findings, neuroimaging results, seizure type and severity and etiology. The variables were assigned binary scores with a total arithmetic composite score ranging from 0 to 7. A cutoff score of ≥ 3 provided the greatest sensitivity and specificity. Normalization or persistent normal findings at follow-up EEG within 3 months after seizure on-set were also associated with neurologic outcomes (p<0.05). Conclusion: We propose scoring system uses seven variables to provide early prognostic information on unfavorable neurodevelopmental outcomes in infants with neonatal seizures and reliably predicts long-term neurologic outcomes at the time of seizure onset.","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-6"},"PeriodicalIF":0.0,"publicationDate":"2016-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2167-0897.1000241","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-11-23DOI: 10.4172/2167-0897.1000239
M. Mohamed
We present a 1 week old female new-born with extensive subcutaneous fat necrosis. Due to extensive necrosis, excision and skin grafting was done.
我们报告一例1周大的女性新生儿大面积皮下脂肪坏死。由于大面积坏死,切除和植皮。
{"title":"An Interesting Neonatal Presentation","authors":"M. Mohamed","doi":"10.4172/2167-0897.1000239","DOIUrl":"https://doi.org/10.4172/2167-0897.1000239","url":null,"abstract":"We present a 1 week old female new-born with extensive subcutaneous fat necrosis. Due to extensive necrosis, excision and skin grafting was done.","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2016-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-11-21DOI: 10.4172/2167-0897.1000240
F. Quraishi, Ming Xiong
In the last 30 years a large amount of data, both animal and human, has come out indicating that perhaps the most commonly used general anesthetics (inhaled anesthetics such as nitrous oxide and iso/sevo/desflurane, but also propofol) may have an effect on the neurodevelopment of an unborn fetus. The neurotoxic effects of volatile anesthetics have been tested numerous times in animal models ranging from rats to primates, and there is a large amount of reliable data which have confirmed that these agents do, in fact, cause interruption and even degeneration of neuronal development, with clinically significant cognitive and behavioural changes neonatal. Does this data apply to the human model?
{"title":"A Review of Anesthetic Effects on the Developing Brain - Animal versus Human Models","authors":"F. Quraishi, Ming Xiong","doi":"10.4172/2167-0897.1000240","DOIUrl":"https://doi.org/10.4172/2167-0897.1000240","url":null,"abstract":"In the last 30 years a large amount of data, both animal and human, has come out indicating that perhaps the most commonly used general anesthetics (inhaled anesthetics such as nitrous oxide and iso/sevo/desflurane, but also propofol) may have an effect on the neurodevelopment of an unborn fetus. The neurotoxic effects of volatile anesthetics have been tested numerous times in animal models ranging from rats to primates, and there is a large amount of reliable data which have confirmed that these agents do, in fact, cause interruption and even degeneration of neuronal development, with clinically significant cognitive and behavioural changes neonatal. Does this data apply to the human model?","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-11-17DOI: 10.4172/2167-0897.1000238
N. Chaudhary, P. Filipov, A. Bhutada, S. Rastogi
Patent Ductus Arteriosus (PDA) is present in 40-60 percent of preterm infants with its incidence inversely proportional to the gestational age. Management of PDA in extreme prematurity and extremely low birth weight infants is controversial specially with newer literature showing no significant benefits in long term outcomes in infants who were treated as compared to those who were not treated. Further the mortality and morbidities in preterm infants may not be entirely related to PDA as previously ascribed. Hence there is controversy as to which preterm infants benefit from treatment, when should they be treated and which treatment modalities should be used. We have reviewed the current literature to bring out the controversies in the answer to these questions.
{"title":"Controversies in the Management of Patent Ductus Arteriosus in Preterm Infants","authors":"N. Chaudhary, P. Filipov, A. Bhutada, S. Rastogi","doi":"10.4172/2167-0897.1000238","DOIUrl":"https://doi.org/10.4172/2167-0897.1000238","url":null,"abstract":"Patent Ductus Arteriosus (PDA) is present in 40-60 percent of preterm infants with its incidence inversely proportional to the gestational age. Management of PDA in extreme prematurity and extremely low birth weight infants is controversial specially with newer literature showing no significant benefits in long term outcomes in infants who were treated as compared to those who were not treated. Further the mortality and morbidities in preterm infants may not be entirely related to PDA as previously ascribed. Hence there is controversy as to which preterm infants benefit from treatment, when should they be treated and which treatment modalities should be used. We have reviewed the current literature to bring out the controversies in the answer to these questions.","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-5"},"PeriodicalIF":0.0,"publicationDate":"2016-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2167-0897.1000238","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-11-04DOI: 10.4172/2167-0897.1000237
V. Ramakrishnan
Rett syndrome (RTT) is defined as a monogenic, X-linked neurological disorder leading to delayed neurodevelopment in females and characterized by scoliosis, seizures, microcephaly, intellectual disability, repetitive hand movement, impaired sleep, excessive saliva, autonomic symptoms, typically little or no verbal skills. Worldwide RTT has been estimated to affect 1 in every 10-15,000 live female births in all ethnic groups [1]. Methyl-CpG binding protein 2 (MECP2) located at chromosomal position q28, containing 4 exons with five protein domains, was identified as the gene responsible for RTT in the year 1999 [2]. This gene was identified by the binding of methyl-CpG binding domain (MBD) to nucleic acid sequences that are being methylated at cytosine. Subsequently, the functional domains such as the nuclear localization signal (NLS) and transcriptional repression domain (TRD) were also identified [3]. MECP2 protein involve in various functions such as chromatin architecture, heterochromatin rearrangement, nuclear organization, regulates splicing and DNA methylation [4].
{"title":"MECP2 Mutations Associated with Rett Syndrome - Molecular Approaches","authors":"V. Ramakrishnan","doi":"10.4172/2167-0897.1000237","DOIUrl":"https://doi.org/10.4172/2167-0897.1000237","url":null,"abstract":"Rett syndrome (RTT) is defined as a monogenic, X-linked neurological disorder leading to delayed neurodevelopment in females and characterized by scoliosis, seizures, microcephaly, intellectual disability, repetitive hand movement, impaired sleep, excessive saliva, autonomic symptoms, typically little or no verbal skills. Worldwide RTT has been estimated to affect 1 in every 10-15,000 live female births in all ethnic groups [1]. Methyl-CpG binding protein 2 (MECP2) located at chromosomal position q28, containing 4 exons with five protein domains, was identified as the gene responsible for RTT in the year 1999 [2]. This gene was identified by the binding of methyl-CpG binding domain (MBD) to nucleic acid sequences that are being methylated at cytosine. Subsequently, the functional domains such as the nuclear localization signal (NLS) and transcriptional repression domain (TRD) were also identified [3]. MECP2 protein involve in various functions such as chromatin architecture, heterochromatin rearrangement, nuclear organization, regulates splicing and DNA methylation [4].","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2016-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4172/2167-0897.1000237","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-10-30DOI: 10.4172/2167-0897.1000236
Lata Bhat, Supriya Bisht
Objective: Baseline sound level in a tertiary level NICU were measured and compared before and after educational intervention to evaluate the impact of a noise awareness educational program in decreasing the sound level in nursery. Methods: The study was conducted in a tertiary level NICU. Participants were NICUdoctors, staff and parents of babies admitted in NICU. Participants were educatedregarding hazards of increased sound level in NICU and measures to reduce the sound level. Sound level in NICU was monitored using a sound meter at seven different time periods every day for 2 weeks. After 1 week of educational intervention period of NICU doctors, staff and parents, post intervention readings in similar format were checked again for 2 weeks. 1.3 Results: There was a significant reduction in sound levels (61.9+ 7.37dBA to 56.2+ 5.12dBA, p=0.002) at pre-intervention and post intervention period respectively. There was a significant difference in sound levels (p<0.01) within the groups at different time periods. 1.4 Conclusion: Noise in the NICU is more than the recommended sound levels of 45 dBA. Activity of people on floor is a significant contributor. Educational interventions of doctors, staff and parents can reduce sound levels significantly, and should be promoted in every NICU.
{"title":"Effect of Educational Intervention among NICU Team and Parents in Reducing Sound Level in Neonatal ICU.","authors":"Lata Bhat, Supriya Bisht","doi":"10.4172/2167-0897.1000236","DOIUrl":"https://doi.org/10.4172/2167-0897.1000236","url":null,"abstract":"Objective: Baseline sound level in a tertiary level NICU were measured and compared before and after educational intervention to evaluate the impact of a noise awareness educational program in decreasing the sound level in nursery. Methods: The study was conducted in a tertiary level NICU. Participants were NICUdoctors, staff and parents of babies admitted in NICU. Participants were educatedregarding hazards of increased sound level in NICU and measures to reduce the sound level. Sound level in NICU was monitored using a sound meter at seven different time periods every day for 2 weeks. After 1 week of educational intervention period of NICU doctors, staff and parents, post intervention readings in similar format were checked again for 2 weeks. 1.3 Results: There was a significant reduction in sound levels (61.9+ 7.37dBA to 56.2+ 5.12dBA, p=0.002) at pre-intervention and post intervention period respectively. There was a significant difference in sound levels (p<0.01) within the groups at different time periods. 1.4 Conclusion: Noise in the NICU is more than the recommended sound levels of 45 dBA. Activity of people on floor is a significant contributor. Educational interventions of doctors, staff and parents can reduce sound levels significantly, and should be promoted in every NICU.","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-10-28DOI: 10.4172/2167-0897.1000235
Ksibi Imen, A. Radhouane, B. Nadia, Bennour Wafa, Cheour Meriem, Ben Amara Moez, Ayari Fayrouz, Ben Ameur, A. Nadia, Néji Khaled, M. Aida, K. Samia
McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive disorder. We report the case of McKusick-Kaufman syndrome in a term female neonate. Antenatal ultrasound found a large cystic abdominal mass corresponding to hydrometrocolpos with bilateral hydronephrosis. This finding was confirmed after birth and its association to polydactyly permitted us to give the diagnosis of MKKS. Exploratory laparotomy revealed vaginal atresia and suspected the association to Hirschprung disease. MKKS is difficult to diagnose antenatally and complementary explorations should be done after birth to establish a definitive diagnosis.
{"title":"Neonatal Case of Mckusick-Kaufman Syndrome Difficulty of Diagnosis and Management","authors":"Ksibi Imen, A. Radhouane, B. Nadia, Bennour Wafa, Cheour Meriem, Ben Amara Moez, Ayari Fayrouz, Ben Ameur, A. Nadia, Néji Khaled, M. Aida, K. Samia","doi":"10.4172/2167-0897.1000235","DOIUrl":"https://doi.org/10.4172/2167-0897.1000235","url":null,"abstract":"McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive disorder. We report the case of McKusick-Kaufman syndrome in a term female neonate. Antenatal ultrasound found a large cystic abdominal mass corresponding to hydrometrocolpos with bilateral hydronephrosis. This finding was confirmed after birth and its association to polydactyly permitted us to give the diagnosis of MKKS. Exploratory laparotomy revealed vaginal atresia and suspected the association to Hirschprung disease. MKKS is difficult to diagnose antenatally and complementary explorations should be done after birth to establish a definitive diagnosis.","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-3"},"PeriodicalIF":0.0,"publicationDate":"2016-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2016-10-20DOI: 10.4172/2167-0897.1000234
A. Radhouane, Ksibi Imen, J. Nádia, A. Nadia, K. Samia, Néji Khaled
The combined prevalence of partial or complete agenesis of the corpus callosum (ACC) is estimated at 0.02-0.5%.This common brain malformation mainly due to a prenatal abnormality commissuration. We report a case of diagnosis of isolated fetal CCA. Magnetic resonance imaging appears to be an important adjunct as it allows direct visualization. The prognosis in isolated agencies of the corpus callosum remains uncertain.
{"title":"Isolated Fetal Corpus Callosum Agenesis: Diagnosis and Management Difficult","authors":"A. Radhouane, Ksibi Imen, J. Nádia, A. Nadia, K. Samia, Néji Khaled","doi":"10.4172/2167-0897.1000234","DOIUrl":"https://doi.org/10.4172/2167-0897.1000234","url":null,"abstract":"The combined prevalence of partial or complete agenesis of the corpus callosum (ACC) is estimated at 0.02-0.5%.This common brain malformation mainly due to a prenatal abnormality commissuration. We report a case of diagnosis of isolated fetal CCA. Magnetic resonance imaging appears to be an important adjunct as it allows direct visualization. The prognosis in isolated agencies of the corpus callosum remains uncertain.","PeriodicalId":73850,"journal":{"name":"Journal of neonatal biology","volume":"5 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2016-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70814543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}