Pub Date : 2024-07-06DOI: 10.18203/2349-3291.ijcp20241944
R. Loni, Aysha Mohammed Alsindi, Amina Ali Alfaw, G. Fox, Ittrat Abbas, Imlelda Mary Lambert, Bryan Lynch
Guillain-Barre syndrome (GBS), Miller-Fisher syndrome (MFS), and Bickerstaff’s brainstem encephalitis (BBE) are syndromes which represent a spectrum of post-infectious inflammatory immune-mediated diseases. They may share a common autoimmune pathogenetic mechanism presenting with progressive ascending weakness or flaccid paralysis affecting both pediatric as well as adult populations. MFS and BBE are rare variants of GBS that should be part of the differential diagnosis when relevant features are present. We present a case of a 6-year-old boy, presenting with a sore throat of one-day duration, associated with difficulty in swallowing, increased salivation and drooling, inability to speak or swallow following an adenoviral upper respiratory infection with exudative tonsillitis and diarrhea. Clinical evaluation showed weak gag reflex and cough reflex, hyperreflexia without clonus, upgoing Babinski reflexes, and hypotonia. A diagnosis of BBE was made based on specific neurological manifestations of hyperreflexia and drowsiness, serological studies, and MRI findings.
{"title":"Acute encephalitis with flaccid paralysis following an adenoviral infection presenting as a rare variant of Guillain Barre syndrome in a school-age child","authors":"R. Loni, Aysha Mohammed Alsindi, Amina Ali Alfaw, G. Fox, Ittrat Abbas, Imlelda Mary Lambert, Bryan Lynch","doi":"10.18203/2349-3291.ijcp20241944","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20241944","url":null,"abstract":"Guillain-Barre syndrome (GBS), Miller-Fisher syndrome (MFS), and Bickerstaff’s brainstem encephalitis (BBE) are syndromes which represent a spectrum of post-infectious inflammatory immune-mediated diseases. They may share a common autoimmune pathogenetic mechanism presenting with progressive ascending weakness or flaccid paralysis affecting both pediatric as well as adult populations. MFS and BBE are rare variants of GBS that should be part of the differential diagnosis when relevant features are present. We present a case of a 6-year-old boy, presenting with a sore throat of one-day duration, associated with difficulty in swallowing, increased salivation and drooling, inability to speak or swallow following an adenoviral upper respiratory infection with exudative tonsillitis and diarrhea. Clinical evaluation showed weak gag reflex and cough reflex, hyperreflexia without clonus, upgoing Babinski reflexes, and hypotonia. A diagnosis of BBE was made based on specific neurological manifestations of hyperreflexia and drowsiness, serological studies, and MRI findings.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141672034","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 : 2024-05-09DOI: 10.18203/2349-3291.ijcp20241291
Yankappa Nayak, Mounika Reddy, Manogna Ghantasala, Ragini Mundhe, M. Samprathi
Autoimmune thyroiditis is a common cause of hypothyroidism in adolescent females. While normocytic normochromic anemia is a recognized association with hypothyroidism, pancytopenia is seldom reported. This case report discusses a young adolescent girl with autoimmune hypothyroidism presenting with severe pancytopenia and hepatosplenomegaly. After extensive evaluation, hypoproliferative marrow with extramedullary hematopoiesis secondary to uncontrolled hypothyroidism was considered to be the most likely cause. Swift recovery following appropriate levothyroxine replacement further supports this hypothesis. Thus, hypothyroidism can be a potential cause of pancytopenia with hepatosplenomegaly. Early recognition and appropriate management can lead to prompt resolution and prevent unnecessary invasive procedures.
{"title":"A puzzle unravelled: pancytopenia and hepatosplenomegaly in juvenile autoimmune hypothyroidism","authors":"Yankappa Nayak, Mounika Reddy, Manogna Ghantasala, Ragini Mundhe, M. Samprathi","doi":"10.18203/2349-3291.ijcp20241291","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20241291","url":null,"abstract":"Autoimmune thyroiditis is a common cause of hypothyroidism in adolescent females. While normocytic normochromic anemia is a recognized association with hypothyroidism, pancytopenia is seldom reported. This case report discusses a young adolescent girl with autoimmune hypothyroidism presenting with severe pancytopenia and hepatosplenomegaly. After extensive evaluation, hypoproliferative marrow with extramedullary hematopoiesis secondary to uncontrolled hypothyroidism was considered to be the most likely cause. Swift recovery following appropriate levothyroxine replacement further supports this hypothesis. Thus, hypothyroidism can be a potential cause of pancytopenia with hepatosplenomegaly. Early recognition and appropriate management can lead to prompt resolution and prevent unnecessary invasive procedures.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140996682","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 : 2024-05-06DOI: 10.18203/2349-3291.ijcp20241285
Steeve Mintoo, Fifi C. Loembe, Sylvie Mpira, Nathalie Nguemou, Joel Djoba Siawaya, Jean Koko, Simon J. Ategbo
Background: Sickle cell disease (SCD) is an important and growing global health problem. Kidney damage is one of the most common complications of SCD. We aimed to determine the prevalence of acute kidney injury (AKI) in children with SCD in our context. Methods: Cross-sectional and analytical study from January 2022 to September 2022, including SCD children aged from 6 months to 17 years during their hospitalisation. We measured the estimated glomerular filtration (eGFR) rate using the combined creatinine and cystatin C formula for kids (CKiDScr-Cys C). Univariate analyses were performed to measure the relationship between variables and AKI and eGFR, followed by a multivariate analysis using logistic regression. Results: Of the 137 children, we included 82 boys (60%) and 55 girls (40%). The mean eGFR was 112±45.3 ml/min/1.73 m2. A total of 36 subjects, or 26.3% (95% CI [18.9-33.6%)), had acute AKI. Comparison of characteristics by AKI status showed significant differences according the number of transfusions (p<0.01), and hemoglobin level (p<0.027), eGFR had a negative correlation with the number of transfusions r=-0.308 (-0.477; -0.117); p<0.01. Multivariate analysis showed that nutritional status was a protective factor of AKI (p<0.01), and the number of transfusions was a predictive factor of AKI in SCD in our context (p<0.001). Conclusions: The results from our study are an urgent alarm to implement the existing management programs on SCD from screening to universal access of hydroxyurea in order to reduce complications and mortality related to this pathology.
背景：镰状细胞病（SCD）是一个日益严重的全球性健康问题。肾损伤是 SCD 最常见的并发症之一。我们旨在确定我国 SCD 儿童急性肾损伤（AKI）的发病率：方法：2022 年 1 月至 2022 年 9 月的横断面分析研究，包括住院期间年龄在 6 个月至 17 岁之间的 SCD 儿童。我们使用儿童肌酐和胱抑素 C 组合公式（CKiDScr-Cys C）测量了估计肾小球滤过率（eGFR）。我们进行了单变量分析，以衡量变量与 AKI 和 eGFR 之间的关系，然后使用逻辑回归进行了多变量分析：在137名患儿中，我们纳入了82名男孩（60%）和55名女孩（40%）。平均 eGFR 为 112±45.3 ml/min/1.73 m2。共有 36 名受试者，即 26.3%（95% CI [18.9-33.6%]）患有急性肾脏缺氧症。按 AKI 状态比较特征显示，输血次数（P<0.01）和血红蛋白水平（P<0.027）有显著差异，eGFR 与输血次数呈负相关 r=-0.308 (-0.477; -0.117)；P<0.01。多变量分析表明，营养状况是 AKI 的保护因素（P<0.01），而输血次数是 SCD 患者 AKI 的预测因素（P<0.001）：我们的研究结果为我们敲响了紧急警钟，必须实施现有的SCD管理计划，从筛查到普及羟基脲，以减少与该病症相关的并发症和死亡率。
{"title":"Evaluation of renal function of sickle cell children in Libreville by estimation of glomerular creatinine-cystatin C filtration rate: prevalence of acute kidney injury and associated factors","authors":"Steeve Mintoo, Fifi C. Loembe, Sylvie Mpira, Nathalie Nguemou, Joel Djoba Siawaya, Jean Koko, Simon J. Ategbo","doi":"10.18203/2349-3291.ijcp20241285","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20241285","url":null,"abstract":"Background: Sickle cell disease (SCD) is an important and growing global health problem. Kidney damage is one of the most common complications of SCD. We aimed to determine the prevalence of acute kidney injury (AKI) in children with SCD in our context.\u0000Methods: Cross-sectional and analytical study from January 2022 to September 2022, including SCD children aged from 6 months to 17 years during their hospitalisation. We measured the estimated glomerular filtration (eGFR) rate using the combined creatinine and cystatin C formula for kids (CKiDScr-Cys C). Univariate analyses were performed to measure the relationship between variables and AKI and eGFR, followed by a multivariate analysis using logistic regression.\u0000Results: Of the 137 children, we included 82 boys (60%) and 55 girls (40%). The mean eGFR was 112±45.3 ml/min/1.73 m2. A total of 36 subjects, or 26.3% (95% CI [18.9-33.6%)), had acute AKI. Comparison of characteristics by AKI status showed significant differences according the number of transfusions (p<0.01), and hemoglobin level (p<0.027), eGFR had a negative correlation with the number of transfusions r=-0.308 (-0.477; -0.117); p<0.01. Multivariate analysis showed that nutritional status was a protective factor of AKI (p<0.01), and the number of transfusions was a predictive factor of AKI in SCD in our context (p<0.001).\u0000Conclusions: The results from our study are an urgent alarm to implement the existing management programs on SCD from screening to universal access of hydroxyurea in order to reduce complications and mortality related to this pathology.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141009293","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 : 2024-03-11DOI: 10.18203/2349-3291.ijcp20240676
Noura Alotayk, R. M. Almunyif, Imad S. Moukais
This case report details the presentation, diagnosis, and management of a 5-year-old girl from Saudi Arabia with Spastic Paraplegia Type 56 (SPG56) resulting from a novel mutation in the CYP2U1 gene. SPG56, a rare form of hereditary spastic paraplegia, exhibits genetic variability, impacting neurological and extra-neurological functions. The patient's clinical course involved a fall at age 2, subsequent motor deterioration, cognitive delays, and spasticity. Comprehensive diagnostic evaluations, including genetic testing, identified a homozygous likely pathogenic variant in CYP2U1. Despite outpatient therapy, the patient underwent a four-week intensive rehabilitation course to address spasticity and enhance daily living activities. This case highlights the challenges in diagnosing and managing SPG56 and underscores the importance of genetic testing in complex neurodegenerative cases.
{"title":"A 5-year-old girl case of spastic paraplegia type 56, a mutation in the CYP2U1 gene","authors":"Noura Alotayk, R. M. Almunyif, Imad S. Moukais","doi":"10.18203/2349-3291.ijcp20240676","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20240676","url":null,"abstract":"This case report details the presentation, diagnosis, and management of a 5-year-old girl from Saudi Arabia with Spastic Paraplegia Type 56 (SPG56) resulting from a novel mutation in the CYP2U1 gene. SPG56, a rare form of hereditary spastic paraplegia, exhibits genetic variability, impacting neurological and extra-neurological functions. The patient's clinical course involved a fall at age 2, subsequent motor deterioration, cognitive delays, and spasticity. Comprehensive diagnostic evaluations, including genetic testing, identified a homozygous likely pathogenic variant in CYP2U1. Despite outpatient therapy, the patient underwent a four-week intensive rehabilitation course to address spasticity and enhance daily living activities. This case highlights the challenges in diagnosing and managing SPG56 and underscores the importance of genetic testing in complex neurodegenerative cases.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140254351","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}
Background: Umbilical venous catheterization and umbilical arterial catheterization provides easy access for administering fluids, exchange transfusion, medications, parenteral nutrition, blood pressure monitoring and blood sampling in neonates. Objective was to know the common practices related to the placement and maintenance of umbilical catheters, along with the associated complications in the level 3 and 4 neonatal intensive care units in the USA. Methods: A questionnaire-based survey study was conducted among NICU practitioners across United States. Only one survey was sent to each NICU. Results: Among the survey respondents, 50.8% represented level 3 NICUs, while 49.2% represented level 4 NICUs. The maximum duration for both UVC and UAC use was commonly reported as up to 7 days. Birth weight was the predominant method (86.8%) used for calculating catheter length. X-rays were universally employed for position confirmation. Heparin was widely utilized through UVC (96.7%), with a concentration of 0.5 IU/ml (73.7%). In cases of malpositioned UVC, practitioners employed techniques such as inserting another catheter, utilizing twisting movements during insertion, adjusting the UVC to a low position, and replacing the malpositioned UVC with a peripheral intravenous line. Common complications associated with UVC included line occlusion, thrombosis, and infections, while poor extremity perfusion and thrombosis were reported with UAC. Most units allowed feeding even when patients had a UAC in place. Conclusions: Despite the presence of institutional policies in most NICUs, practitioners encountered several complications during the use of umbilical catheters.
{"title":"The practice of umbilical vessels catheterization in neonatal intensive care units: a survey","authors":"Nita Shrestha, Manhal Khilfeh, Rajesh Dudani, Shou-Yien Wu","doi":"10.18203/2349-3291.ijcp20240340","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20240340","url":null,"abstract":"Background: Umbilical venous catheterization and umbilical arterial catheterization provides easy access for administering fluids, exchange transfusion, medications, parenteral nutrition, blood pressure monitoring and blood sampling in neonates. Objective was to know the common practices related to the placement and maintenance of umbilical catheters, along with the associated complications in the level 3 and 4 neonatal intensive care units in the USA.\u0000Methods: A questionnaire-based survey study was conducted among NICU practitioners across United States. Only one survey was sent to each NICU.\u0000Results: Among the survey respondents, 50.8% represented level 3 NICUs, while 49.2% represented level 4 NICUs. The maximum duration for both UVC and UAC use was commonly reported as up to 7 days. Birth weight was the predominant method (86.8%) used for calculating catheter length. X-rays were universally employed for position confirmation. Heparin was widely utilized through UVC (96.7%), with a concentration of 0.5 IU/ml (73.7%). In cases of malpositioned UVC, practitioners employed techniques such as inserting another catheter, utilizing twisting movements during insertion, adjusting the UVC to a low position, and replacing the malpositioned UVC with a peripheral intravenous line. Common complications associated with UVC included line occlusion, thrombosis, and infections, while poor extremity perfusion and thrombosis were reported with UAC. Most units allowed feeding even when patients had a UAC in place.\u0000Conclusions: Despite the presence of institutional policies in most NICUs, practitioners encountered several complications during the use of umbilical catheters.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140441510","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 : 2024-02-22DOI: 10.18203/2349-3291.ijcp20240347
Madhuri Kadam, Abhijeet Trivedi, Vishal Sachede
Background: Intraventricular hemorrhage (IVH) is the commonly encountered clinical event in preterm neonates which imposes significant morbidity and mortality. Although there is a rapid advancement in the neonatal care, IVH is the common cause of neonatal intensive care units admissions. The present study was carried out to evaluate the risk factors, mortality and neurological outcomes in preterm neonates with IVH. Methods: This was a prospective study conducted on 75 preterm neonates who were delivered before 37 weeks of gestation. The neonates were subjected to cranial ultrasound for the diagnosis of IVH and graded as per the severity. The neonatal and prenatal variables were recorded and analysed to find its association with IVH progression and mortality. Immediate neurological outcome was also assessed among the IVH preterm neonates. Results: In this study out of 75 preterm neonates, the prevalence of IVH was 18 (24%). The main neonatal factors for IVH are less gestational age at delivery, 28-31 weeks (p=0.001), birth weight <1500 gm (p=0.001), APGAR scores <5 at 1 and 5 minutes (p>0.05) and maternal factors associated with IVH is premature rupture of membranes (p=0.01). The mortality rate among the IVH preterm neonates was 7 (38.9%). The significant predictors of mortality were male gender (p=0.004), grade III and IV IVH (p=0.001) and birth weight (p=0.001). The main neurological outcomes observed were seizures and post-hemorrhagic ventricular dilatation. Conclusions: Increased severity of IVH, early gestational age and low birth weight were associated with mortality in preterm neonates with IVH.
{"title":"Intraventricular hemorrhage on mortality and neurological outcomes in premature infants","authors":"Madhuri Kadam, Abhijeet Trivedi, Vishal Sachede","doi":"10.18203/2349-3291.ijcp20240347","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20240347","url":null,"abstract":"Background: Intraventricular hemorrhage (IVH) is the commonly encountered clinical event in preterm neonates which imposes significant morbidity and mortality. Although there is a rapid advancement in the neonatal care, IVH is the common cause of neonatal intensive care units admissions. The present study was carried out to evaluate the risk factors, mortality and neurological outcomes in preterm neonates with IVH.\u0000Methods: This was a prospective study conducted on 75 preterm neonates who were delivered before 37 weeks of gestation. The neonates were subjected to cranial ultrasound for the diagnosis of IVH and graded as per the severity. The neonatal and prenatal variables were recorded and analysed to find its association with IVH progression and mortality. Immediate neurological outcome was also assessed among the IVH preterm neonates. \u0000Results: In this study out of 75 preterm neonates, the prevalence of IVH was 18 (24%). The main neonatal factors for IVH are less gestational age at delivery, 28-31 weeks (p=0.001), birth weight <1500 gm (p=0.001), APGAR scores <5 at 1 and 5 minutes (p>0.05) and maternal factors associated with IVH is premature rupture of membranes (p=0.01). The mortality rate among the IVH preterm neonates was 7 (38.9%). The significant predictors of mortality were male gender (p=0.004), grade III and IV IVH (p=0.001) and birth weight (p=0.001). The main neurological outcomes observed were seizures and post-hemorrhagic ventricular dilatation.\u0000Conclusions: Increased severity of IVH, early gestational age and low birth weight were associated with mortality in preterm neonates with IVH.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140441586","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 : 2024-02-22DOI: 10.18203/2349-3291.ijcp20240349
Sanjeev Dutta, Niharika Khullar
This single-center, retrospective study was conducted at Marengo Asia Hospital, Haryana from January 2023 to November 2023. Children aged 1 month to 16 years, admitted with a positive adenovirus polymerase chain reaction (nasopharyngeal swab) were included. Symptomatic management was provided to all children. The study focuses on discussing the demographic, clinical, laboratory and radiological profiles of hospitalized children with human adenovirus infection. Among the 25 children with a positive adenovirus polymerase chain reaction, 18 (72%) were males, 15 (60%) were within the age group of 1 month to 5 years. Furthermore, 13 (52%) children were hospitalized during summer season. The most prevalent symptoms observed in children admitted with adenovirus infection were high-grade persistent fever in 25 cases (100%), cough and cold in 15 cases (60%), 14 (56%) vomiting in 14 cases (56%), pain abdomen and loose stools in 10 cases (40%), conjunctivitis in 6 cases (24%), and adenoviral pneumonia in 4 cases (16%). Notably all children were discharged successfully without encountering any complications. HAdV infections are commonly associated with high- grade fever, challenging the conventional perception that respiratory infections are their predominant manifestation. Equally noteworthy is the prevalence of gastrointestinal symptoms in HAdV infections
{"title":"Profile of adenoviral infection in hospitalized children","authors":"Sanjeev Dutta, Niharika Khullar","doi":"10.18203/2349-3291.ijcp20240349","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20240349","url":null,"abstract":"This single-center, retrospective study was conducted at Marengo Asia Hospital, Haryana from January 2023 to November 2023. Children aged 1 month to 16 years, admitted with a positive adenovirus polymerase chain reaction (nasopharyngeal swab) were included. Symptomatic management was provided to all children. The study focuses on discussing the demographic, clinical, laboratory and radiological profiles of hospitalized children with human adenovirus infection. Among the 25 children with a positive adenovirus polymerase chain reaction, 18 (72%) were males, 15 (60%) were within the age group of 1 month to 5 years. Furthermore, 13 (52%) children were hospitalized during summer season. The most prevalent symptoms observed in children admitted with adenovirus infection were high-grade persistent fever in 25 cases (100%), cough and cold in 15 cases (60%), 14 (56%) vomiting in 14 cases (56%), pain abdomen and loose stools in 10 cases (40%), conjunctivitis in 6 cases (24%), and adenoviral pneumonia in 4 cases (16%). Notably all children were discharged successfully without encountering any complications. HAdV infections are commonly associated with high- grade fever, challenging the conventional perception that respiratory infections are their predominant manifestation. Equally noteworthy is the prevalence of gastrointestinal symptoms in HAdV infections\u0000 ","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140438606","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 : 2024-02-22DOI: 10.18203/2349-3291.ijcp20240354
Harshith Siddappaswamy, Arumugam R., Sudeep Gaddam, Dhaarani Jayaraman, Niranjani Maniurmila, J. Scott
Fanconi anemia is a rare autosomal recessive inherited disorder impacting the interstrand cross-link DNA repair pathway, leading to systemic and hematologic manifestations as well as an increased susceptibility to malignancies. Diagnosing FA involves a comprehensive approach, combining physical examinations, clinical investigations, and genetic analysis. In this report, we present the case of an 11-year-old girl with FA who exhibited notable physical characteristics such as short stature, microcephaly, hyperpigmentation, and bifid thumbs in both hands, coupled with the hematologic complication of pancytopenia. The challenge often lies in the delay of identifying physical findings, given the variable and subtle nature of these anomalies. Although genetic analysis confirms the diagnosis, the child had regular visits to pediatrician elsewhere for immunization, congenital anomalies, hyperpigmentation, short stature and received blood transfusions, this delay in recognizing physical manifestations underscores the need for heightened awareness among healthcare professionals to ensure an early diagnosis.
范可尼贫血症是一种罕见的常染色体隐性遗传疾病，会影响DNA链间交联修复途径，导致全身和血液系统表现，并增加对恶性肿瘤的易感性。FA 的诊断需要结合体格检查、临床检查和基因分析等综合方法。在本报告中，我们介绍了一例患有 FA 的 11 岁女孩，她表现出显著的体格特征，如身材矮小、小头畸形、色素沉着、双手拇指双裂，并伴有全血细胞减少的血液学并发症。鉴于这些异常的多变性和微妙性，难题往往在于无法及时发现体征。虽然基因分析证实了诊断，但患儿因免疫接种、先天畸形、色素沉着、身材矮小等问题定期到其他地方的儿科就诊，并接受过输血治疗，这种对身体表现的认识延迟突出表明，医护人员需要提高意识，以确保早期诊断。
{"title":"Congenital anomalies with pancytopenia: the vital role of physical examination in the diagnosis","authors":"Harshith Siddappaswamy, Arumugam R., Sudeep Gaddam, Dhaarani Jayaraman, Niranjani Maniurmila, J. Scott","doi":"10.18203/2349-3291.ijcp20240354","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20240354","url":null,"abstract":"Fanconi anemia is a rare autosomal recessive inherited disorder impacting the interstrand cross-link DNA repair pathway, leading to systemic and hematologic manifestations as well as an increased susceptibility to malignancies. Diagnosing FA involves a comprehensive approach, combining physical examinations, clinical investigations, and genetic analysis. In this report, we present the case of an 11-year-old girl with FA who exhibited notable physical characteristics such as short stature, microcephaly, hyperpigmentation, and bifid thumbs in both hands, coupled with the hematologic complication of pancytopenia. The challenge often lies in the delay of identifying physical findings, given the variable and subtle nature of these anomalies. Although genetic analysis confirms the diagnosis, the child had regular visits to pediatrician elsewhere for immunization, congenital anomalies, hyperpigmentation, short stature and received blood transfusions, this delay in recognizing physical manifestations underscores the need for heightened awareness among healthcare professionals to ensure an early diagnosis.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140440753","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 : 2024-02-22DOI: 10.18203/2349-3291.ijcp20240356
Kruti Shah, Shwetal Bhatt, Vaishali R. Chanpura
Hyperbilirubinemia is one of the most widely seen causes of neonatal morbidity. Haemolytic disease of fetus and newborn is caused by maternal alloantibodies to the fetal RBCs. It is responsible for incompatibility between maternal and fetal blood groups, which results in destruction of fetal red blood cells causing hyperbilirubinemia. ABO and Rh incompatibility are the most common causes of severe indirect hyperbilirubinemia. Besides ABO and Rh isoimmunization, minor blood group incompatibilities such as anti-Kell, anti-C, anti-c, anti-E, anti MNS, Duffy, KIDD, P, Lutheran and Lewis have also been identified as causes of severe neonatal jaundice with an incidence of 385/1,00,000 live births in South-East Asia. We, hereby report a rare case of a full term 2.2 kg newborn presented with severe anemia with reticulocytosis and neonatal hyperbilirubinemia at second hour of life. In view of strongly positive DCT and no Rh negative or ABO setting, minor blood group incompatibility screening test was performed in the mother which revealed presence of multiple alloantibodies; however, the red cell phenotyping confirmed the presence of anti-c antibodies in maternal sera responsible for neonatal alloimmune haemolytic anemia. The baby was offered intensive phototherapy with intravenous immunoglobulin.
{"title":"A rare presentation of severe alloimmune hemolytic disease of newborn pertaining to minor blood group ‘c’ incompatibility: a case report and review of literature","authors":"Kruti Shah, Shwetal Bhatt, Vaishali R. Chanpura","doi":"10.18203/2349-3291.ijcp20240356","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20240356","url":null,"abstract":"Hyperbilirubinemia is one of the most widely seen causes of neonatal morbidity. Haemolytic disease of fetus and newborn is caused by maternal alloantibodies to the fetal RBCs. It is responsible for incompatibility between maternal and fetal blood groups, which results in destruction of fetal red blood cells causing hyperbilirubinemia. ABO and Rh incompatibility are the most common causes of severe indirect hyperbilirubinemia. Besides ABO and Rh isoimmunization, minor blood group incompatibilities such as anti-Kell, anti-C, anti-c, anti-E, anti MNS, Duffy, KIDD, P, Lutheran and Lewis have also been identified as causes of severe neonatal jaundice with an incidence of 385/1,00,000 live births in South-East Asia. We, hereby report a rare case of a full term 2.2 kg newborn presented with severe anemia with reticulocytosis and neonatal hyperbilirubinemia at second hour of life. In view of strongly positive DCT and no Rh negative or ABO setting, minor blood group incompatibility screening test was performed in the mother which revealed presence of multiple alloantibodies; however, the red cell phenotyping confirmed the presence of anti-c antibodies in maternal sera responsible for neonatal alloimmune haemolytic anemia. The baby was offered intensive phototherapy with intravenous immunoglobulin.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140441845","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 : 2024-02-22DOI: 10.18203/2349-3291.ijcp20240341
S. N. Razanamanana, N. H. Raveloharimino, Radohery Lovasoa Randriamanga, N. Rabesandratana
Background: The initiation and progression of enteral nutrition in premature infants remains a challenge. The aim of this study was to evaluate enteral nutritional management in premature infants in the neonatology department at the mother and child complex Androva Mahajanga. Methods: This was a retrospective descriptive study over a 7-month period, from January to July 2018. All neonates under 37SA who received enteral feeding were included. Results: During the study period, 74 newborns were able to receive enteral feeding. The mean age of onset of enteral feeding was 10.6 hours. In 89.2% of cases, enteral feeding was started within the first 24 hours of life. On average, the initial quantity administered was 28.4ml/kg/d. Human milk was used most frequently (54.8%). The presence of residue was the most frequently encountered incident (31.5%). Ulcero-necrotizing enterocolitis occurred in 7 newborns (9.5%). Forty-five newborns had a good outcome, with an average weight gain of 9.28 g/kg/d. Conclusions: The implementation of a nutritional management protocol for newborns, especially premature babies, in the neonatology department would be beneficial for a better outcome and growth of the baby.
{"title":"Feeding premature babies in the neonatology department of the Androva Mahajanga Hospital","authors":"S. N. Razanamanana, N. H. Raveloharimino, Radohery Lovasoa Randriamanga, N. Rabesandratana","doi":"10.18203/2349-3291.ijcp20240341","DOIUrl":"https://doi.org/10.18203/2349-3291.ijcp20240341","url":null,"abstract":"Background: The initiation and progression of enteral nutrition in premature infants remains a challenge. The aim of this study was to evaluate enteral nutritional management in premature infants in the neonatology department at the mother and child complex Androva Mahajanga.\u0000Methods: This was a retrospective descriptive study over a 7-month period, from January to July 2018. All neonates under 37SA who received enteral feeding were included.\u0000Results: During the study period, 74 newborns were able to receive enteral feeding. The mean age of onset of enteral feeding was 10.6 hours. In 89.2% of cases, enteral feeding was started within the first 24 hours of life. On average, the initial quantity administered was 28.4ml/kg/d. Human milk was used most frequently (54.8%). The presence of residue was the most frequently encountered incident (31.5%). Ulcero-necrotizing enterocolitis occurred in 7 newborns (9.5%). Forty-five newborns had a good outcome, with an average weight gain of 9.28 g/kg/d.\u0000Conclusions: The implementation of a nutritional management protocol for newborns, especially premature babies, in the neonatology department would be beneficial for a better outcome and growth of the baby.","PeriodicalId":507602,"journal":{"name":"International Journal of Contemporary Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140439820","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}
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