P. Varughese, Sajan Thomas, S. Nampoothiri, P. Bendapudi
Methemoglobinemia is a dyshemoglobinemia characterized by cyanosis and reduced oxygen saturation with increased methemoglobin values. The etiology may be congenital or acquired, with the latter being more common. We report a case of a full-term neonate who presented with transient cyanosis and methemoglobinemia caused by a mutation in the gamma chain of fetal hemoglobin.
{"title":"Breaking Free from Your Fetal Chains: A Case-Based Review of the Literature on Gamma Chain Variant Hemoglobinopathies","authors":"P. Varughese, Sajan Thomas, S. Nampoothiri, P. Bendapudi","doi":"10.5385/nm.2023.30.1.14","DOIUrl":"https://doi.org/10.5385/nm.2023.30.1.14","url":null,"abstract":"Methemoglobinemia is a dyshemoglobinemia characterized by cyanosis and reduced oxygen saturation with increased methemoglobin values. The etiology may be congenital or acquired, with the latter being more common. We report a case of a full-term neonate who presented with transient cyanosis and methemoglobinemia caused by a mutation in the gamma chain of fetal hemoglobin.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42410613","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 : 2022-11-30DOI: 10.5385/nm.2022.29.4.141
Gyeong Eun Yeom, Y. Jung, S. Kim, S. Choi, Hunmin Kim, Changwon Choi
Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is related to a mutation in breast cancer 1-associated ataxia telangiectasia mutated activation-1 protein (BRAT1). We report a case of a female infant born to non-consanguineous Korean parents who developed hypertonia, dysmorphic features, progressive encephalopathy with refractory seizures at birth, and worsening intermittent apnea, leading to intubation and death at 137 days of age. The initial repeated electroencephalographic findings were normal; however, a pattern of focal seizures emerged at 35 days of life. Rapid trio whole-exome sequencing revealed heterozygous mutations c.1313_1314delAG p.(Gln438Argfs*51) and c.1276C>T p. (Gln426*) in BRAT1. After genetic counseling for pregnancy planning, a preimplantation genetic diagnosis for targeted BRAT1 mutations was successfully performed, and a healthy baby was born. To our knowledge, this is the first reported case of a Korean patient with compound heterozygous mutations in BRAT1. An early and accurate genetic diagnosis can help provide timely treatment to patients and indicate the need for reproductive counseling for parents for family planning.
{"title":"First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report","authors":"Gyeong Eun Yeom, Y. Jung, S. Kim, S. Choi, Hunmin Kim, Changwon Choi","doi":"10.5385/nm.2022.29.4.141","DOIUrl":"https://doi.org/10.5385/nm.2022.29.4.141","url":null,"abstract":"Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is related to a mutation in breast cancer 1-associated ataxia telangiectasia mutated activation-1 protein (BRAT1). We report a case of a female infant born to non-consanguineous Korean parents who developed hypertonia, dysmorphic features, progressive encephalopathy with refractory seizures at birth, and worsening intermittent apnea, leading to intubation and death at 137 days of age. The initial repeated electroencephalographic findings were normal; however, a pattern of focal seizures emerged at 35 days of life. Rapid trio whole-exome sequencing revealed heterozygous mutations c.1313_1314delAG p.(Gln438Argfs*51) and c.1276C>T p. (Gln426*) in BRAT1. After genetic counseling for pregnancy planning, a preimplantation genetic diagnosis for targeted BRAT1 mutations was successfully performed, and a healthy baby was born. To our knowledge, this is the first reported case of a Korean patient with compound heterozygous mutations in BRAT1. An early and accurate genetic diagnosis can help provide timely treatment to patients and indicate the need for reproductive counseling for parents for family planning.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41452368","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 : 2022-11-30DOI: 10.5385/nm.2022.29.4.130
Gahyun Hong, Minsun Choi
Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type. These four subtypes are further classified according to the location of gene mutation and genetic patterns. Epidermolysis bullosa simplex (EBS) is characterized by separation in the epidermal or subepidermal layer. And it is mostly caused by mutation of keratin 5 (KRT5) and KRT14 genes. Recently, genetic test has become increasingly important for diagnosis, confirming subtypes and genetic counseling. And there are moderate correlation exists between the EBS phenotype and genotype. Here, we report a case of 2-day-old boy with EBS Dowling-Meara type (EBS-DM) diagnosed by mutation analysis in KRT14.
{"title":"A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn","authors":"Gahyun Hong, Minsun Choi","doi":"10.5385/nm.2022.29.4.130","DOIUrl":"https://doi.org/10.5385/nm.2022.29.4.130","url":null,"abstract":"Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and mixed type. These four subtypes are further classified according to the location of gene mutation and genetic patterns. Epidermolysis bullosa simplex (EBS) is characterized by separation in the epidermal or subepidermal layer. And it is mostly caused by mutation of keratin 5 (KRT5) and KRT14 genes. Recently, genetic test has become increasingly important for diagnosis, confirming subtypes and genetic counseling. And there are moderate correlation exists between the EBS phenotype and genotype. Here, we report a case of 2-day-old boy with EBS Dowling-Meara type (EBS-DM) diagnosed by mutation analysis in KRT14.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44391835","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 : 2022-11-30DOI: 10.5385/nm.2022.29.4.123
Seung Jun Bang, Juyoung Lee, G. Jeon, Y. Jun
Purpose: Erythropoietin (EPO) is a promising neuroprotective drug. We investigated whether EPO has beneficial effects on neurodevelopmental outcomes in infants with hypoxic-ischemic encephalopathy (HIE).Methods: We retrospectively reviewed the data of 56 infants with HIE born at or after 35 weeks of gestation who were admitted to Inha University Hospital between 2012 and 2021. Patients were divided into two groups based on EPO use and compared. In the EPO group, patients were administered 1,000 U/kg of EPO on days 1, 2, 3, 5, and 7, starting within 24 hours after birth. The primary outcome was death or neurodevelopmental impairment (NDI) at the age of 12 months.Results: EPO was administered to 38 infants, and 18 did not receive EPO. Only 37.5% of patients with HIE (21/56) and 60% of patients with moderate-to-severe HIE (21/35) received therapeutic hypothermia. Among all patients with HIE, death or NDI (21.1 % vs. 50.0%; odds ratio [OR], 0.09; 95% confidence interval [CI], 0.01 to 0.78; P=0.029) and brain injury on imaging (42.1% vs. 83.3%; OR, 0.16; 95% CI, 0.03 to 0.92; P=0.040) were significantly lower in the EPO group than in the control group. Among patients with moderate-to-severe HIE, brain injury on imaging (54.2% vs. 90.9%; OR, 0.04; 95% CI, 0.002 to 0.700; P=0.027) was significantly lower in the EPO group than in the control group.Conclusion: EPO administration significantly reduced mortality and NDI in infants with HIE. EPO can be considered an adjunctive therapeutic agent for neonatal HIE.
目的:促红细胞生成素(EPO)是一种很有前途的神经保护药物。我们研究了EPO是否对缺氧缺血性脑病(HIE)婴儿的神经发育结果有有益的影响。方法:我们回顾性分析了2012年至2021年间在仁荷大学医院收治的56例妊娠35周或之后出生的HIE婴儿的资料。根据EPO的使用情况将患者分为两组进行比较。在EPO组，患者在出生后24小时内开始，在第1、2、3、5和7天给予1,000 U/kg的EPO。主要结局是12个月时死亡或神经发育障碍(NDI)。结果:38例患儿接受EPO治疗，18例患儿未接受EPO治疗。只有37.5%的HIE患者(21/56)和60%的中重度HIE患者(21/35)接受了低温治疗。在所有HIE患者中，死亡或NDI (21.1% vs 50.0%;优势比[OR]， 0.09;95%可信区间[CI]， 0.01 ~ 0.78;P=0.029)和脑损伤影像学差异(42.1% vs. 83.3%;或者,0.16;95% CI, 0.03 ~ 0.92;P=0.040)， EPO组明显低于对照组。在中重度HIE患者中，影像学显示脑损伤(54.2% vs. 90.9%;或者,0.04;95% CI, 0.002 ~ 0.700;P=0.027)， EPO组明显低于对照组。结论:EPO可显著降低HIE患儿死亡率和NDI。EPO可作为新生儿HIE的辅助治疗剂。
{"title":"Erythropoietin Reduces Death and Neurodevelopmental Impairment in Neonatal Hypoxic-Ischemic Encephalopathy","authors":"Seung Jun Bang, Juyoung Lee, G. Jeon, Y. Jun","doi":"10.5385/nm.2022.29.4.123","DOIUrl":"https://doi.org/10.5385/nm.2022.29.4.123","url":null,"abstract":"Purpose: Erythropoietin (EPO) is a promising neuroprotective drug. We investigated whether EPO has beneficial effects on neurodevelopmental outcomes in infants with hypoxic-ischemic encephalopathy (HIE).Methods: We retrospectively reviewed the data of 56 infants with HIE born at or after 35 weeks of gestation who were admitted to Inha University Hospital between 2012 and 2021. Patients were divided into two groups based on EPO use and compared. In the EPO group, patients were administered 1,000 U/kg of EPO on days 1, 2, 3, 5, and 7, starting within 24 hours after birth. The primary outcome was death or neurodevelopmental impairment (NDI) at the age of 12 months.Results: EPO was administered to 38 infants, and 18 did not receive EPO. Only 37.5% of patients with HIE (21/56) and 60% of patients with moderate-to-severe HIE (21/35) received therapeutic hypothermia. Among all patients with HIE, death or NDI (21.1 % vs. 50.0%; odds ratio [OR], 0.09; 95% confidence interval [CI], 0.01 to 0.78; P=0.029) and brain injury on imaging (42.1% vs. 83.3%; OR, 0.16; 95% CI, 0.03 to 0.92; P=0.040) were significantly lower in the EPO group than in the control group. Among patients with moderate-to-severe HIE, brain injury on imaging (54.2% vs. 90.9%; OR, 0.04; 95% CI, 0.002 to 0.700; P=0.027) was significantly lower in the EPO group than in the control group.Conclusion: EPO administration significantly reduced mortality and NDI in infants with HIE. EPO can be considered an adjunctive therapeutic agent for neonatal HIE.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45207297","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 : 2022-11-30DOI: 10.5385/nm.2022.29.4.135
M. Park, Ja-Hye Ahn, H. J. Lee, Hyun-Kyung Park, Jae-Kyoon Hwang, Chang-Ryul Kim, J. Na
Pericardial effusion (PCE) in neonates has various clinical presentations depending on the amount and speed of fluid accumulation and can cause cardiac tamponade (CT). We report a case of rapidly accumulating PCE and near-fatal CT with an umbilical venous catheter successfully resolved by emergent echo-guided pericardiocentesis in a term infant who had been hospitalized with meconium aspiration syndrome and persistent pulmonary hypertension. This case report suggests that if a patient with an intracardiac umbilical catheter shows sudden cardiopulmonary instability, the possibility of PCE and CT should be considered. Furthermore, if necessary, emergency drainage of the PCE and removal of the umbilical catheter should be immediately performed.
{"title":"Rapidly Progressive Pericardial Effusion and Cardiac Tamponade in a Term Infant with an Umbilical Venous Catheter: A Case Report","authors":"M. Park, Ja-Hye Ahn, H. J. Lee, Hyun-Kyung Park, Jae-Kyoon Hwang, Chang-Ryul Kim, J. Na","doi":"10.5385/nm.2022.29.4.135","DOIUrl":"https://doi.org/10.5385/nm.2022.29.4.135","url":null,"abstract":"Pericardial effusion (PCE) in neonates has various clinical presentations depending on the amount and speed of fluid accumulation and can cause cardiac tamponade (CT). We report a case of rapidly accumulating PCE and near-fatal CT with an umbilical venous catheter successfully resolved by emergent echo-guided pericardiocentesis in a term infant who had been hospitalized with meconium aspiration syndrome and persistent pulmonary hypertension. This case report suggests that if a patient with an intracardiac umbilical catheter shows sudden cardiopulmonary instability, the possibility of PCE and CT should be considered. Furthermore, if necessary, emergency drainage of the PCE and removal of the umbilical catheter should be immediately performed.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48611675","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 : 2022-11-30DOI: 10.5385/nm.2022.29.4.149
Seok Jin Hong, Ji Eun Park, Y. Sohn, Y. Suh, Jang Hoon Lee, M. Park
Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.
{"title":"Newborn Periventricular Nodular Heterotopia with Persistent Feeding Cyanosis and Apneic Spell: A Case Report","authors":"Seok Jin Hong, Ji Eun Park, Y. Sohn, Y. Suh, Jang Hoon Lee, M. Park","doi":"10.5385/nm.2022.29.4.149","DOIUrl":"https://doi.org/10.5385/nm.2022.29.4.149","url":null,"abstract":"Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45842126","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 : 2022-08-31DOI: 10.5385/nm.2022.29.3.105
M. Jeong, S. Jeong, C. Hwang, Y. Cho, S. Byun, N. Lee
Sacrococcygeal teratoma is the most common congenital tumor in neonates, and is reported in approximately 1/35,000 to 1/40,000 live births. Oligodendroglioma is a rare central nervous system tumor that is usually found in the cerebral hemisphere of young and middle aged adults. When associated with a teratoma, it is mainly identified in ovarian teratoma in adolescents and adults. We describe a rare case of a preterm infant with oligodendroglioma in a mature sacrococcygeal teratoma. The male neonate was born at a gestational age of 30 weeks with a protruding mass in the sacrococcygeal region. Pelvic magnetic resonance imaging showed a sacrococcygeal teratoma of approximately 11 cm comprising fat components and skeletal structure, that extended from the anterior part of the sacrum to the abdominal cavity. Radical resection was performed at 36 days of age. Macroscopically, the resected intra-abdominal mass had the characteristics of a cystic lesion, and the intrapelvic mass was a predominantly solid mixed cystic-solid lesion. Histologically, this solid lesion in the intrapelvic mass was composed of mature glial tissue, which comprised as a proliferation of monotonous cells with small and round nuclei, surrounded by a perinuclear halo (“fried egg” appearance). Additionally, these cells were immunohistochemically positive for glial fibrillary acidic protein. These findings confirmed the diagnosis of oligodendroglioma in sacrococcygeal mature teratoma. After the treatment, no recurrence was observed during the follow-up period, and no additional intervention was required. However, the patient is undergoing treatment for voiding dysfunction caused by a neurogenic bladder.
{"title":"A Rare Case of Oligodendroglioma in Sacrococcygeal Mature Teratoma Diagnosed in Preterm Infant","authors":"M. Jeong, S. Jeong, C. Hwang, Y. Cho, S. Byun, N. Lee","doi":"10.5385/nm.2022.29.3.105","DOIUrl":"https://doi.org/10.5385/nm.2022.29.3.105","url":null,"abstract":"Sacrococcygeal teratoma is the most common congenital tumor in neonates, and is reported in approximately 1/35,000 to 1/40,000 live births. Oligodendroglioma is a rare central nervous system tumor that is usually found in the cerebral hemisphere of young and middle aged adults. When associated with a teratoma, it is mainly identified in ovarian teratoma in adolescents and adults. We describe a rare case of a preterm infant with oligodendroglioma in a mature sacrococcygeal teratoma. The male neonate was born at a gestational age of 30 weeks with a protruding mass in the sacrococcygeal region. Pelvic magnetic resonance imaging showed a sacrococcygeal teratoma of approximately 11 cm comprising fat components and skeletal structure, that extended from the anterior part of the sacrum to the abdominal cavity. Radical resection was performed at 36 days of age. Macroscopically, the resected intra-abdominal mass had the characteristics of a cystic lesion, and the intrapelvic mass was a predominantly solid mixed cystic-solid lesion. Histologically, this solid lesion in the intrapelvic mass was composed of mature glial tissue, which comprised as a proliferation of monotonous cells with small and round nuclei, surrounded by a perinuclear halo (“fried egg” appearance). Additionally, these cells were immunohistochemically positive for glial fibrillary acidic protein. These findings confirmed the diagnosis of oligodendroglioma in sacrococcygeal mature teratoma. After the treatment, no recurrence was observed during the follow-up period, and no additional intervention was required. However, the patient is undergoing treatment for voiding dysfunction caused by a neurogenic bladder.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43718313","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 : 2022-08-31DOI: 10.5385/nm.2022.29.3.117
Ki Teak Hong, S. Shin, Y. Choi, E. Kim, Han-Suk Kim
Hypoxic-ischemic encephalopathy in neonates is an important cause of brain damage that leads to severe neurological sequelae or death. Brain injury patterns on magnetic resonance imaging (MRI) scans are used to predict neurodevelopmental outcome severity. This case series describes the clinical manifestations and neurologic outcomes of four preterm infants with isolated deep gray matter injuries. Basal ganglia and thalamic lesions were noted without white matter and cerebral cortex lesion on brain MRI. All patients were preterm infants born at less than 33 weeks’ gestation and required resuscitation in the delivery room. All had seizures during the neonatal period requiring anti-seizure medications. Severe neurologic disability was identified in three patients using neurodevelopmental assessment tools. Another patient has not been evaluated with assessment tools yet as he was 2 months’ corrected age, but he was supported by home ventilation via a tracheostomy due to insufficient self-respiration. This case series demonstrates that isolated deep gray matter injuries in preterm infants could predict severe neurodevelopmental outcomes.
{"title":"Case Series of Isolated Deep Gray Matter Injuries in Preterm Infants","authors":"Ki Teak Hong, S. Shin, Y. Choi, E. Kim, Han-Suk Kim","doi":"10.5385/nm.2022.29.3.117","DOIUrl":"https://doi.org/10.5385/nm.2022.29.3.117","url":null,"abstract":"Hypoxic-ischemic encephalopathy in neonates is an important cause of brain damage that leads to severe neurological sequelae or death. Brain injury patterns on magnetic resonance imaging (MRI) scans are used to predict neurodevelopmental outcome severity. This case series describes the clinical manifestations and neurologic outcomes of four preterm infants with isolated deep gray matter injuries. Basal ganglia and thalamic lesions were noted without white matter and cerebral cortex lesion on brain MRI. All patients were preterm infants born at less than 33 weeks’ gestation and required resuscitation in the delivery room. All had seizures during the neonatal period requiring anti-seizure medications. Severe neurologic disability was identified in three patients using neurodevelopmental assessment tools. Another patient has not been evaluated with assessment tools yet as he was 2 months’ corrected age, but he was supported by home ventilation via a tracheostomy due to insufficient self-respiration. This case series demonstrates that isolated deep gray matter injuries in preterm infants could predict severe neurodevelopmental outcomes.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41411189","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 : 2022-08-31DOI: 10.5385/nm.2022.29.3.112
Seung Hoon Lee, S. Shin, J. Ko, Boram Kim, H. S. Oh, M. Kim, Seul Gi Park, E. Kim, Han-Suk Kim
Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, developmental delay, intellectual disability, respiratory distress in early infancy, and arthrogryposis. More than 250 individuals with approximately 57 different molecular variants have been reported since 2013, but the phenotype-genotype association in SYS is not yet fully understood. Here, we describe the case of a Korean patient diagnosed with SYS harboring a mutation in the paternal allele of MAGEL2: c.2895G>A, resulting in a protein change of p.Trp965*. The patient’s phenotype included respiratory distress, arthrogryposis, hypotonia, and feeding difficulty in the early neonatal period. Mild renal dysfunction and hearing impairment were observed during infancy.
{"title":"A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report","authors":"Seung Hoon Lee, S. Shin, J. Ko, Boram Kim, H. S. Oh, M. Kim, Seul Gi Park, E. Kim, Han-Suk Kim","doi":"10.5385/nm.2022.29.3.112","DOIUrl":"https://doi.org/10.5385/nm.2022.29.3.112","url":null,"abstract":"Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, developmental delay, intellectual disability, respiratory distress in early infancy, and arthrogryposis. More than 250 individuals with approximately 57 different molecular variants have been reported since 2013, but the phenotype-genotype association in SYS is not yet fully understood. Here, we describe the case of a Korean patient diagnosed with SYS harboring a mutation in the paternal allele of MAGEL2: c.2895G>A, resulting in a protein change of p.Trp965*. The patient’s phenotype included respiratory distress, arthrogryposis, hypotonia, and feeding difficulty in the early neonatal period. Mild renal dysfunction and hearing impairment were observed during infancy.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48828736","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}
Purpose: Atrial flutter is an uncommon arrhythmia in the neonatal period. This study aimed to describe the cause and clinical course of atrial flutter in neonates.Methods: The medical records of 14 patients diagnosed with atrial flutter at Ulsan University Hospital Neonatal Intensive Care Unit (NICU) between March 2008 and August 2020 were reviewed retrospectively.Results: All 14 cases occurred on the first day of birth. Of these, two were term infants, and 12 were preterm infants. Causes of atrial flutter included three cases of the umbilical venous catheter misplacement, one with a diabetic mother, and one ivolving atrial flutter after an intravenous aminophylline injection. Thirteen patients had structurally normal hearts with no congenital heart diseases. The patient, born to a diabetic mother, had an atrial septal defect and ventricular hypertrophy. Adenosine was administered first to differentiate it from paroxysmal supraventricular tachycardia. Synchronized cardioversion was attempted in 11 patients, while one received it after an esmolol injection that failed to convert to sinus rhythm. One patient had a recurrence after the intrusion of a peripherally inserted central catheter; however, atrial flutter disappeared after repositioning it. No patient had a recurrence after discharge.Conclusion: Neonatal atrial flutter is a rare tachyarrhythmia with the risk factors often unknown; however, it could occur in structural heart disease, mispositioning of the umbilical venous catheter, and if the mother has diabetes. During umbilical venous catheterization, clinicians should be cautious and ensure appropriate monitoring of infants in the NICU as it may cause complications.
{"title":"Neonatal Atrial Flutter: Clinical Characteristics of 14 Cases in a Single Center","authors":"So Hye Park, G. Lim, Ki Won Oh, J. Ko","doi":"10.5385/nm.2022.29.3.97","DOIUrl":"https://doi.org/10.5385/nm.2022.29.3.97","url":null,"abstract":"Purpose: Atrial flutter is an uncommon arrhythmia in the neonatal period. This study aimed to describe the cause and clinical course of atrial flutter in neonates.Methods: The medical records of 14 patients diagnosed with atrial flutter at Ulsan University Hospital Neonatal Intensive Care Unit (NICU) between March 2008 and August 2020 were reviewed retrospectively.Results: All 14 cases occurred on the first day of birth. Of these, two were term infants, and 12 were preterm infants. Causes of atrial flutter included three cases of the umbilical venous catheter misplacement, one with a diabetic mother, and one ivolving atrial flutter after an intravenous aminophylline injection. Thirteen patients had structurally normal hearts with no congenital heart diseases. The patient, born to a diabetic mother, had an atrial septal defect and ventricular hypertrophy. Adenosine was administered first to differentiate it from paroxysmal supraventricular tachycardia. Synchronized cardioversion was attempted in 11 patients, while one received it after an esmolol injection that failed to convert to sinus rhythm. One patient had a recurrence after the intrusion of a peripherally inserted central catheter; however, atrial flutter disappeared after repositioning it. No patient had a recurrence after discharge.Conclusion: Neonatal atrial flutter is a rare tachyarrhythmia with the risk factors often unknown; however, it could occur in structural heart disease, mispositioning of the umbilical venous catheter, and if the mother has diabetes. During umbilical venous catheterization, clinicians should be cautious and ensure appropriate monitoring of infants in the NICU as it may cause complications.","PeriodicalId":32945,"journal":{"name":"Neonatal Medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43507393","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}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：