SVOA Paediatrics最新文献

{"title":"Epilepsy and Cognition in GM2-Gangliosidosis B1 Variant – Experience of a Tertiary Hospital","authors":"Mariana M. Anjos, Sara Ferreira, Luísa Diogo, Joana Almeida, Cristina Pereira","doi":"10.58624/svoapd.2024.03.071","DOIUrl":"https://doi.org/10.58624/svoapd.2024.03.071","url":null,"abstract":"Introduction: GM2 gangliosidosis B1 variant (GM2B1) is an autosomal recessive disorder due to deficiency of β-hexosaminidase A, leading to the lysosomal storage of GM2 gangliosides in neuronal tissue and neuronal death. Symptoms include progressive motor coordination impairment and neurodegeneration, in children with previously normal development, leading to early death. Objective: Clinical characterization of patients with GM2B1 with a focus on epileptic manifestations. Methods: A descriptive retrospective study was conducted, analyzing clinical records of patients diagnosed with GM2B1 and followed at our Hospital Neuropediatric Department in the decade 2013-2022. Results: Four patients (three female) from three families diagnosed with GM2B1 were identified. The median age at diagnosis was 70 months. The most frequent symptoms at presentation were developmental regression (all children), language impairment (three), and epileptic seizures (two). Enzymatic deficiency in leukocytes and pathogenic variants in the HEXA gene were demonstrated in all cases. The pathogenic variant c.533G>A(p.R178H) in exon 5 was present in seven of the eight alleles. All patients experienced language impairment (Md=42 mos) with complete language loss (Md=78 mos). Loss of walking ability occurred in three patients (Md=96 mos). All patients experienced epileptic seizures during the course of the disease, with a median onset of seizures at 55 months. Initial seizures were classified as atypical absences (two), tonic seizures (one) and myoclonic seizures (one). Electroencephalographic evaluation revealed slow basal rhythm and focal paroxysmal activity in all cases. All were treated with antiseizure medication, two requiring a combination of three drugs. Conclusion: GM2B1 encompasses a wide clinical spectrum, with heterogenous age of symptom onset, clinical presentation and disease progression. Epilepsy is a common comorbidity in GM2B1, with variable seizure type and severity, and may be difficult to control. Timely diagnosis, coupled with multidisciplinary clinical follow-up, is crucial to improve quality of life of patients and enable genetic counseling.","PeriodicalId":490587,"journal":{"name":"SVOA Paediatrics","volume":"68 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141697867","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}

{"title":"Chemical Peritonitis Due to Ruptured Ovarian Teratoma: A Case Report and Literature Review","authors":"Ines Lariguet, Natalia D'Alessio, Jimena Esnaola, Berger Matias","doi":"10.58624/svoapd.2024.03.062","DOIUrl":"https://doi.org/10.58624/svoapd.2024.03.062","url":null,"abstract":"Introduction: Mature cystic teratomas (MCT) are the most common ovarian tumors in pediatric patients, often asymptomatic due to slow growth, when symptomatic, they can lead to abdominal pain. Spontaneous rupture can result in acute chemical peritonitis (CP), a rare but life-threatening complication. This study presents a clinical case of a patient with spontaneous rupture of an ovarian teratoma and associated acute CP. Clinical Case: 13-year-old female presented with acute abdominal pain, fever, distended and painful abdomen with peritoneal reaction in the right iliac fossa and hypogastrium. Abdominal ultrasound showed a hypoechoic rounded image with an anechoic center in the right adnexal region. Laparoscopic exploration revealed a cystic teratoma of the right ovary with torsion, but no compromise of vitality. Purulent fluid indicated CP due to ruptured and twisted ovarian teratoma. Right ovarian cystectomy was performed, drainage was offered in the Douglas pouch. The patient's condition improved, and she was discharged after recovery. Discussion: Rupture and CP are rare but require emergency surgery. Preoperative diagnosis can be challenging due to their non-specific clinical presentation and the need to rule out malignant complications. Conclusion: Early and appropriate management of MCT is essential to prevent serious complications. Sebum spillage can cause CP, the treatment of choice is teratoma removal, combined with extensive lavage to avoid chronic peritonitis. Laparoscopic surgery stands out as a safe and effective option. A high index of suspicion and comprehensive approach are emphasized in managing this uncommon condition in the pediatric population.","PeriodicalId":490587,"journal":{"name":"SVOA Paediatrics","volume":"68 42","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141110180","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}

{"title":"Total Hepatic Herniation Associated with Giant Omphalocele: Case Report","authors":"Daniel Manzano Moscoso, Laura González Gordón, Ana Lucía Cevallos Rodríguez","doi":"10.58624/svoapd.2024.03.056","DOIUrl":"https://doi.org/10.58624/svoapd.2024.03.056","url":null,"abstract":"Omphalocele is a congenital defect of the abdominal wall. The current knowledge of its etiology suggests that this defect is not due to the failure of closure or migration of the body wall. Rather, since the umbilical cord is inserted into the sac, it is considered that the omphalocele appears due to the lack of return of the viscera to the abdominal cavity. Consequently, the abdominal contents are herniated with an incidence of 1.5 to 3 per 10,000 births and are associated with multiple congenital and chromosomal malformations. We present an atypical and rare case of a 37-year-old mother; As a result of his fourth pregnancy, with an ultrasound diagnosis at 21 weeks of omphalocele with herniated fetal liver, with birth without complications by scheduled caesarean section, whose defect was considered a giant omphalocele (> 6cm), and which was treated with the placement of silo since the introduction of the herniated contents (liver) into the abdominal cavity was not achieved. The purpose of this paper is to try to explain the complexity of the management of this type of patient, and the complications related to its management, since, being of rare presentation, it becomes a complex challenge for the multidisciplinary team that must face this type of pathology.","PeriodicalId":490587,"journal":{"name":"SVOA Paediatrics","volume":"276 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140427686","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}

{"title":"Comorbid Obsessive-Compulsive Disorder and Bipolar Disorder in the Pediatric Population — Clinical and Therapeutic Challenges","authors":"N. A. Barradas, Ricardo M. Delgado, Cristina Marques","doi":"10.58624/svoapd.2024.03.055","DOIUrl":"https://doi.org/10.58624/svoapd.2024.03.055","url":null,"abstract":"Comorbidity between obsessive-compulsive disorder and bipolar disorder has been a well-documented phenomenon in the adult population for several decades. However, scant evidence exists regarding this comorbidity in the juvenile population. The objective of this review is to investigate the impact of obsessive-compulsive disorder and bipolar disorder comorbidity on the clinical course and therapeutic approaches for each disorder individually, with a particular focus on children and adolescents. A scientific review was conducted on a careful analysis of the evidence available on the electronic databases: MEDLINE, Embase and Cochrane Library. In children, it has been observed that up to one-third of individuals diagnosed with either obsessive-compulsive disorder or bipolar disorder also experience a lifetime co-occurrence of the other disorder, a notably higher prevalence when compared to adults. The primary diagnosis typically manifests with an earlier onset in this population. When bipolar disorder is present, children and adolescents with obsessive-compulsive disorder tend to exhibit an episodic course, more hoarding or saving obsessions and compulsions, and a significantly higher number of comorbidities. In this age group, obsessive-compulsive disorder and bipolar disorder comorbidity is further linked to increased severity symptoms, greater impulsivity, reduced responsiveness to pharmacological treatment, elevated suicide risk, and a diminished likelihood of achieving remission rates for manic and depressive symptoms. Obsessive-compulsive symptoms during childhood and adolescence may indicate vulnerability to have bipolar disorder, suggesting partially shared etiopathogenetic mechanisms between these psychiatric entities. The use of antidepressants poses a risk of inducing a switch to mania or rapid cycling in bipolar patients. Additionally, atypical antipsychotics have been reported to trigger and worsen obsessive-compulsive symptoms. The complexity involved in deciding on a suitable treatment scheme for individuals with this comorbidity may contribute to an unfavorable clinical course. A noteworthy portion of comorbid patients may require a combination of multiple mood stabilizers for effective management.","PeriodicalId":490587,"journal":{"name":"SVOA Paediatrics","volume":"56 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139846906","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}

{"title":"Comorbid Obsessive-Compulsive Disorder and Bipolar Disorder in the Pediatric Population — Clinical and Therapeutic Challenges","authors":"N. A. Barradas, Ricardo M. Delgado, Cristina Marques","doi":"10.58624/svoapd.2024.03.055","DOIUrl":"https://doi.org/10.58624/svoapd.2024.03.055","url":null,"abstract":"Comorbidity between obsessive-compulsive disorder and bipolar disorder has been a well-documented phenomenon in the adult population for several decades. However, scant evidence exists regarding this comorbidity in the juvenile population. The objective of this review is to investigate the impact of obsessive-compulsive disorder and bipolar disorder comorbidity on the clinical course and therapeutic approaches for each disorder individually, with a particular focus on children and adolescents. A scientific review was conducted on a careful analysis of the evidence available on the electronic databases: MEDLINE, Embase and Cochrane Library. In children, it has been observed that up to one-third of individuals diagnosed with either obsessive-compulsive disorder or bipolar disorder also experience a lifetime co-occurrence of the other disorder, a notably higher prevalence when compared to adults. The primary diagnosis typically manifests with an earlier onset in this population. When bipolar disorder is present, children and adolescents with obsessive-compulsive disorder tend to exhibit an episodic course, more hoarding or saving obsessions and compulsions, and a significantly higher number of comorbidities. In this age group, obsessive-compulsive disorder and bipolar disorder comorbidity is further linked to increased severity symptoms, greater impulsivity, reduced responsiveness to pharmacological treatment, elevated suicide risk, and a diminished likelihood of achieving remission rates for manic and depressive symptoms. Obsessive-compulsive symptoms during childhood and adolescence may indicate vulnerability to have bipolar disorder, suggesting partially shared etiopathogenetic mechanisms between these psychiatric entities. The use of antidepressants poses a risk of inducing a switch to mania or rapid cycling in bipolar patients. Additionally, atypical antipsychotics have been reported to trigger and worsen obsessive-compulsive symptoms. The complexity involved in deciding on a suitable treatment scheme for individuals with this comorbidity may contribute to an unfavorable clinical course. A noteworthy portion of comorbid patients may require a combination of multiple mood stabilizers for effective management.","PeriodicalId":490587,"journal":{"name":"SVOA Paediatrics","volume":" 520","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139787368","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}

{"title":"Acute Lymphoblastic Leukemia: About a Case Observed at the Renaissance University Hospital in N'Djamena.","authors":"Hassan Adam Annour, Ildjima Ousmane Kadallah, Mahamat Ali Bolti, Adoum Chene Izerik, Djatibi","doi":"10.58624/svoapd.2024.03.054","DOIUrl":"https://doi.org/10.58624/svoapd.2024.03.054","url":null,"abstract":"Introduction: Childhood acute lymphoblastic leukaemia is the most common paediatric cancer. The objective of our work is to focus on a haematological manifestation such as pancytopenia inaugurating the picture of acute lymphoblastic leukaemia. Observation: 11-year-old AI, who has been reporting repeated anaemia and haemoglobinuria for 6 months. The clinical examination reveals an alteration of the general condition, severe mucocutaneous pallor, splenomegaly. The initial blood count showed pancytopenia. The diagnosis of acute lymphoblastic leukaemia was confirmed by a myelogram requested in the presence of pancytopenia. Conclusion: Through this observation, we report the clinical and biological manifestations of acute lymphoblastic leukaemia, emphasizing the interest in eliminating haematological malignancy in the face of any pancytopenia.","PeriodicalId":490587,"journal":{"name":"SVOA Paediatrics","volume":"48 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140487324","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}