Case Reports in Pediatrics最新文献

{"title":"Anorectal Malformations: The Pivotal Role of the Good Clinical Practice.","authors":"Filomena Valentina Paradiso, Sara Silvaroli, Riccardo Rizzo, Lorenzo Nanni","doi":"10.1155/2023/3669723","DOIUrl":"10.1155/2023/3669723","url":null,"abstract":"<p><p>Anorectal malformations (ARM) without a fistula are a rare congenital condition. Although may seem more simple to repair compared with ARM with fistulas, surgery has proved to be challenging. We report the case of a newborn who presented a well-formed anus and normal genitalia; a blind-ending anal canal was detected after the insertion of a rectal probe, thus allowing the diagnosis of ARM. Anal probing straight after birth avoids the possible complications related to intestinal obstruction due to a missed diagnosis of ARM. Examination of the perineal region is an important step in the evaluation of the newborn and represents the tool for a prompt identification of ARM. Adding anal probing to accurate inspection perineum is a good clinical practice and should always be performed even in presence of a normal-looking perineum.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"3669723"},"PeriodicalIF":0.9,"publicationDate":"2023-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10630000/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71520652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vogt-Koyanagi-Harada Syndrome (VKHS): First Two Cases Reported in Pediatric Age Group in Oman.","authors":"Samiya Al Hashmi,&nbsp;Nasra Al Habsi,&nbsp;Safiya Al Abrawi","doi":"10.1155/2023/1745603","DOIUrl":"https://doi.org/10.1155/2023/1745603","url":null,"abstract":"<p><p>The Vogt-Koyanagi-Harada syndrome (VKHS) is a unique form of granulomatous autoimmune disease that mostly impacts the pigmented tissues of the body. The main feature is bilateral granulomatous panuveitis, which is detected on ophthalmologic examination, along with additional systemic signs such as vitiligo, white hair, neurological involvement, or hearing loss. This study aims to report two cases of Vogt-Koyanagi-Harada syndrome presented in the children age group, which is unusual and very rare, to improve recognition of this disease to avoid complications and delay referral.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"1745603"},"PeriodicalIF":0.9,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10622593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71478349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Symptomatic Hypocalcemia due to Nutritional Vitamin D Deficiency in Three Adolescents during the COVID-19 Pandemic.","authors":"Sabitha Sasidharan Pillai,&nbsp;Lisa Swartz Topor","doi":"10.1155/2023/3588196","DOIUrl":"https://doi.org/10.1155/2023/3588196","url":null,"abstract":"<p><strong>Background: </strong>Symptomatic hypocalcemia secondary to vitamin D deficiency (VDD) is rare among adolescents without underlying medical disorders, but its prevalence is higher in known risk populations. We report on three adolescent males with low nutritional intake of vitamin D and calcium and limited sun exposure who presented with hypocalcemic tetany and muscle cramps due to VDD during the COVID-19 pandemic. <i>Case Reports</i>. Three adolescent males (age range 14 to 16 years) presented with symptomatic hypocalcemia: paresthesia, carpopedal spasms, and muscle cramps. All reported limited dairy intake and sun exposure. Laboratory studies showed mean ionized calcium (iCa) 2.73 mg/dl (range 2.69-2.8), mean phosphorus 4.17 mg/dl (range, 3-5.4), mean parathyroid hormone (PTH) 431.67 pg/mL (range, 320-527), and mean 25-hydroxyvitamin D (25(OH)D) 7.37 ng/mL (range 5.3-10.8). All the patients presented during the COVID-19 pandemic, and one had COVID-19 infection. All were treated with oral calcium and high dose ergocalciferol. Patients 2 and 3 were also treated with intravenous calcium gluconate infusion and oral calcitriol.</p><p><strong>Conclusion: </strong>Severe VDD with symptomatic hypocalcemia can occur among adolescents without underlying medical diagnoses due to dietary and behavioral habits that limit nutritional intake and sun exposure. Risk factors of the patients may have been potentiated by pandemic-related behaviors such as more time indoors at home related to social distancing, as well as diets with limited nutrient intake. Adolescents presenting with nonspecific musculoskeletal symptoms should be screened for VDD and hypocalcemia. Appropriate treatment and preventive measures can stop immediate and long-term complications.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"3588196"},"PeriodicalIF":0.9,"publicationDate":"2023-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602705/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71410697","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duodenogastric Intussusception in a 14-Week-Old Infant with Donohue Syndrome: Case Study.","authors":"Corina Ramona Nicolescu,&nbsp;Clara Cremillieux,&nbsp;Jean-Louis Stephan","doi":"10.1155/2023/7799234","DOIUrl":"10.1155/2023/7799234","url":null,"abstract":"<p><p>Donohue syndrome (DS) is a rare recessively inherited disorder characterized by severe insulin resistance caused by genetic defects affecting the insulin receptor. The classical clinical characteristics include severe intrauterine growth restriction, craniofacial dysmorphic features, body and skin features, and soft tissue overgrowth. Postnatal growth retardation, cardiac, gastrointestinal, and renal complications, and infection susceptibility develop within the first few months of life, leading to a short life expectancy (<2 years). The classical metabolic abnormalities vary from fasting hypoglycemia to postprandial hyperglycemia with severe hyperinsulinemia. We present the case of a 14-week-old infant with DS who developed cardiac, renal, hepatic, pancreatic, and gastrointestinal features, all of them previously reported in infants with DS. The gastrointestinal features started during the first week of life and included abdominal distension, feeding difficulties, intermittent vomiting, and two episodes of intestinal obstruction. The diagnosis of duodenogastric intussusception was made, and this previously unreported complication tragically resulted in mortality. We discuss how basic mechanisms of cross-talk between insulin and insulin-growth factor 1 receptors could be linked to hyperinsulinemia and its associated comorbidities.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"7799234"},"PeriodicalIF":0.9,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10599843/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54227790","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Asymptomatic Esophageal Eosinophilia in an 11-Year-Old with Severe Persistent Asthma.","authors":"Casey E Hofstaedter,&nbsp;Runa Watkins,&nbsp;Nidhi Kotwal","doi":"10.1155/2023/6678918","DOIUrl":"10.1155/2023/6678918","url":null,"abstract":"<p><p>Asymptomatic esophageal eosinophilia (aEE) is a rare presentation, where patients have increased eosinophils in esophageal mucosa but lack any esophagus-related symptoms. Cases of aEE have only been documented in adults, and little is known about its clinical significance and whether treatment is warranted. We report a case of an 11-year-old patient with uncontrolled severe persistent asthma who underwent flexible bronchoscopy and upper endoscopy as a part of complete aerodigestive evaluation. Elevated intraepithelial eosinophils in the esophageal mucosa were noted, suggesting an aEE-like presentation. This case documents a pediatric patient with aEE and highlights the importance of combined aerodigestive assessment with pulmonology and gastroenterology teams for the evaluation of severe asthma.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"6678918"},"PeriodicalIF":0.9,"publicationDate":"2023-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586919/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49688865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to \"Myocardial Infarction in Neonates: A Diagnostic and Therapeutic Challenge\".","authors":"Manuel Rodríguez Martínez,&nbsp;Eladio Ruiz González,&nbsp;Anna Parra-Llorca,&nbsp;Máximo Vento Torres,&nbsp;Marta Aguar Carrascosa","doi":"10.1155/2023/9871021","DOIUrl":"https://doi.org/10.1155/2023/9871021","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1155/2019/7203407.].</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"9871021"},"PeriodicalIF":0.9,"publicationDate":"2023-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49674663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Challenging Case of Oral Ulcers and Gastrointestinal Bleeding: Crohn's or Behçet's Disease.","authors":"Marina A S Dantas,&nbsp;Ana Luiza Graneiro,&nbsp;Rodrigo Cavalcante,&nbsp;Lina Maria Felipez","doi":"10.1155/2023/4705638","DOIUrl":"10.1155/2023/4705638","url":null,"abstract":"<p><p><i>Introduction</i>. Differentiating Crohn's disease (CD) and Behçet's disease (BD) with gastrointestinal (GI) manifestations can be clinically challenging, as current diagnostic criteria are not clear between both conditions and multiple symptoms could overlap. <i>Case Presentation</i>. The patient is an 8-year-old boy of Brazilian descent, who initially presented with a 1-year history of painful oral ulcers. Before presenting to the hospital, he had been treated for periodic fever, aphthous stomatitis, pharyngitis, and adenitis and placed on steroids, with relapsing symptoms on attempts to wean the doses. The initial workup was largely unremarkable. Buccal biopsies showed no granulomas, and the ophthalmologic exam was normal. Infectious and rheumatological tests were negative. Prometheus IBD sgi testing showed a pattern consistent with CD; however, the patient had multiple negative endoscopies, colonoscopies, and capsule endoscopies. He developed intermittent bloody stools and severe malnutrition and did not respond to infliximab, colchicine, or methotrexate. After a large GI bleed, a 4th colonoscopy was performed, which showed large round ulcers in the terminal ileum, and no granulomas. He was started on ustekinumab with clinical improvement. One month later, he developed bilateral hip effusion and meningismus, being diagnosed with aseptic meningitis secondary to COVID-19. He improved, but in one month developed worsening symptoms, and MRV showed extensive venous sinus thrombosis. The patient was started on enoxaparin, methylprednisolone, and colchicine, with resolution of the thrombus on a 3-month follow-up. The patient's overall symptoms remained controlled with clinical and biochemical remission on monthly ustekinumab. <i>Discussion and Conclusion</i>. Our patient had a challenging clinical course, with nonspecific systemic and intestinal manifestations which proved difficult to differentiate between BD and CD. Given endoscopic findings and the worsening of an auto-inflammatory reaction in the central nervous system after COVID-19 in a patient with controlled GI symptoms, the most likely diagnosis is BD.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"4705638"},"PeriodicalIF":0.9,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41192221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Striatal Lacunar Infarction in a Late Preterm Infant Born to a Mother with Active Peripartum SARS-CoV-2 Infection.","authors":"Christoph Hochmayr,&nbsp;Marlene Hammerl,&nbsp;Ira Winkler,&nbsp;Gisela Schweigmann,&nbsp;Ursula Kiechl-Kohlendorfer,&nbsp;Elke Griesmaier,&nbsp;Anna Posod","doi":"10.1155/2023/1611451","DOIUrl":"10.1155/2023/1611451","url":null,"abstract":"<p><strong>Background: </strong>The current literature suggests that neonatal severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections generally have a mild course. Data on how in utero exposure to maternal infection affects neonatal health outcomes are limited, but there is evidence that neurological damage to the fetus and thromboembolic events may occur. <i>Case Presentation</i>. We describe the case of a late preterm infant, who presented with striatal lacunar infarction in the neonatal period, born to a mother with active peripartum SARS-CoV-2 infection. Diagnostic workup did not identify risk factors apart from the maternal SARS-CoV-2 infection. Repeated reverse transcription-polymerase chain reaction (RT-PCR) tests for SARS-CoV-2 using oropharyngeal swab specimens of the patient were negative. IgG, but not IgM antibodies against spike protein S1 receptor-binding domain (S1RBD) epitope were detectable in umbilical cord blood and neonatal serum collected at 48 hours of life. Anti-SARS-CoV-2 total antibody titers against nucleocapsid protein in umbilical cord blood were negative.</p><p><strong>Conclusions: </strong>Bearing in mind a possible association of in utero exposure to SARS-CoV-2 and neonatal thromboembolic events, neonatologists should be aware of these complications even in well-appearing preterm infants.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"1611451"},"PeriodicalIF":0.9,"publicationDate":"2023-09-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41099229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of Recombinant Human Growth Hormone Treatment in a Patient with Short Stature Associated with the Ring Chromosome 17 Syndrome.","authors":"Gustavo Tempone Cardoso Penna,&nbsp;Gabriela de Rezende Lelot,&nbsp;Ana Luiza de Rezende Lelot,&nbsp;Juliana Greghi Hernandez,&nbsp;Carolina Costa Figueiredo,&nbsp;Nara Michelle de Araujo Evangelista,&nbsp;Vania de Fatima Tonetto Fernandes,&nbsp;Guido de Paula Colares Neto","doi":"10.1155/2023/6686511","DOIUrl":"10.1155/2023/6686511","url":null,"abstract":"<p><strong>Background: </strong>Ring chromosome 17 syndrome is a rare hereditary disorder whose prevalence is less than 1 : 1.000.000. We present a ten-year-old patient with ring chromosome 17 syndrome who had short stature and was treated with recombinant human growth hormone (rhGH). <i>Case Report</i>. A ten-year-old male scholar had moderate left conductive deafness, left kidney hypoplasia with hypertension, epilepsy, malformations in hands, feet, and abdomen, and disproportionately short stature. Despite no evidence of growth hormone deficiency, rhGH treatment was indicated as a therapeutic test due to his decelerated growth velocity and severe short stature. As a result, his growth velocity increased by 4.2 cm per year and his stature Z-score increased (from -5.87 to -5.23).</p><p><strong>Conclusion: </strong>The patient's severe short stature may be related to genetic, environmental, and hormonal factors and the positive response to rhGH may indicate abnormalities in the somatotropic axis that were mitigated with the treatment. Although rhGH associated with adequate comorbidities controls improved his growth velocity and height <i>Z</i>-score, its effects in the long term are still unclear.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"6686511"},"PeriodicalIF":0.9,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41107568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Diagnosis for an Infant Presenting with Olive-Shaped Abdominal Mass.","authors":"Ghada Maher Abdulaziz,&nbsp;Khalid Maher Mohamed,&nbsp;Ayat Hassan Zilai,&nbsp;Asmaa Ibrahim Attieh,&nbsp;Eman Abdulmohsen Alhammad,&nbsp;Abdullah Yahya Akkam","doi":"10.1155/2023/6924037","DOIUrl":"https://doi.org/10.1155/2023/6924037","url":null,"abstract":"<p><p>A 3-month-old male infant was bought to the emergency department with almost 3 weeks of projectile, bilious emesis after each feed. On presentation, he was cachectic and severely dehydrated and had a palpable olive in the epigastric region. Hypertrophic pyloric stenosis was excluded by abdominal ultrasound. The barium meal demonstrated a massively distended stomach, absence of distal gas, and triple bubble sign. Given the radiological findings, the patient underwent an emergency exploratory laparotomy and a congenital duodenal web (CDW) was discovered. While the clinical picture suggested the diagnosis of HPS, barium meal eventually revealed congenital duodenal web. To our knowledge, no other cases of palpable olive mass as the presenting sign of proximal bowel obstruction have been published.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2023 ","pages":"6924037"},"PeriodicalIF":0.9,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545470/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41101484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}