Case Reports in Pediatrics最新文献

{"title":"Acute Scrotal Involvement in Kawasaki Disease: A Potential Clinical Clue to Persistent Disease Activity.","authors":"Yuma Inui, Katsuyuki Yokoi, Chihaya Sumida, Masato Itano, Natsuki Hatakawa, Takanori Suzuki, Hidetoshi Uchida, Kazuyoshi Saito, Yoshiki Kawamura","doi":"10.1155/crpe/4413879","DOIUrl":"10.1155/crpe/4413879","url":null,"abstract":"<p><p>Kawasaki disease (KD) is an acute vasculitis and the leading cause of acquired heart disease in children. Coronary artery aneurysms (CAAs) arise from vascular inflammation during the acute phase; however, in some patients, inflammation may persist despite treatment, and reliable clinical indicators of ongoing disease activity remain limited. Acute scrotal involvement is a rare manifestation of KD, and its clinical significance has not been well established. Here, we report a case of a previously healthy 49-month-old boy who presented with 4 days of fever and the five principal features of KD. He was initially treated with intravenous immunoglobulin, aspirin, and prednisolone, resulting in transient improvement. On Day 7 of illness, he developed recurrent fever and right inguinal pain. Fever persisted on Day 8, accompanied by recurrent lip erythema and worsening inflammation, prompting a second dose of intravenous immunoglobulin. His fever improved on Day 9, when right-sided scrotal erythema and swelling became evident. Ultrasonography revealed a right hydrocele with preserved blood flow and no epididymal torsion. Echocardiography on Day 11 demonstrated medium-sized bilateral CAAs, which were subsequently confirmed by coronary computed tomography. The scrotal findings resolved completely within 1 month. This clinical course suggests that acute scrotal involvement may represent a potential clinical clue to persistent disease activity in KD, warranting careful reassessment for evolving coronary artery involvement.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"4413879"},"PeriodicalIF":0.5,"publicationDate":"2026-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13422637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148629660","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":"HYPER-HIE Phenotype: Postrewarming Systemic Hypertension Following Hypoxic-Ischemic Encephalopathy-A Case Report and Mechanistic Review.","authors":"Aimann Surak, Georg M Schmölzer","doi":"10.1155/crpe/1742901","DOIUrl":"10.1155/crpe/1742901","url":null,"abstract":"<p><strong>Background: </strong>Perinatal asphyxia is frequently complicated by cardiovascular instability. Although hypotension and myocardial dysfunction are widely recognized, systemic hypertension after asphyxia has been described in human neonates and may represent a distinct hemodynamic phenotype.</p><p><strong>Case report: </strong>We present two infants with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia who developed systemic hypertension following rewarming and received milrinone as part of hemodynamic management. Blood pressure normalized during the recovery phase while the infants were receiving milrinone; however, the observational nature of these cases precludes conclusions regarding treatment efficacy.</p><p><strong>Review of literature: </strong>We provide a narrative review summarizing the available human evidence for postrewarming systemic hypertension and discuss potential mechanisms, implications for phenotype-directed management, and priorities for future research.</p><p><strong>Conclusion: </strong>These cases suggest the existence of systemic hypertension emerging after therapeutic hypothermia as a distinct postrewarming hemodynamic phenotype (HYPER-HIE phenotype), characterized by elevated systemic vascular resistance despite recovering myocardial function. Recognition of this phenotype has important implications for postrewarming cardiovascular surveillance and phenotype-directed hemodynamic management in neonatal encephalopathy.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"1742901"},"PeriodicalIF":0.5,"publicationDate":"2026-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13401245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148590566","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":"Seven-Year Longitudinal Respiratory Morbidity in Ohtahara Syndrome: A Case Report Emphasizing Integrated Airway and Seizure Care in a Resource-Limited Setting.","authors":"Fadi Abualhommos, Moath Hattab, Masara Samara, Mahmoud Suleiman, Enas Samara, Abdallah Abukhater, Isra Salman","doi":"10.1155/crpe/5989045","DOIUrl":"10.1155/crpe/5989045","url":null,"abstract":"<p><strong>Introduction: </strong>Ohtahara syndrome (OS) features neonatal-onset tonic spasms with suppression-burst EEG, high early mortality, and evolution to other epileptic encephalopathies. Respiratory complications are frequent yet underdescribed longitudinally.</p><p><strong>Case: </strong>We followed a female with neonatal-onset OS and suppression-burst EEG to the age of seven. Despite combination antiseizure therapy (phenobarbital, levetiracetam, vigabatrin, and clonazepam), she had breakthrough events and severe developmental impairment. Between the ages 1 and 7 years, she experienced ≥ 15 documented hospitalizations for recurrent bronchopneumonia, frequently with hypoxemia requiring supplemental oxygen; several episodes were accompanied by seizure exacerbations and clinical aspiration or choking events.</p><p><strong>Management and outcomes: </strong>Admissions were managed with supportive respiratory care (oxygen, bronchodilators, and corticosteroids when indicated) and broad-spectrum antimicrobials alongside ongoing seizure management, enabling survival to school age in a resource-limited context.</p><p><strong>Conclusions: </strong>In OS, respiratory complications, often driven by aspiration risk and impaired airway clearance, can become a dominant source of morbidity and should be addressed with the same priority as antiseizure therapy. We highlight practical pillars for long-term care: proactive infection prevention and early treatment pathways; aspiration-risk assessment with feeding/swallow support when feasible; airway-clearance planning with bronchodilator trials during illnesses; judicious corticosteroid use; and caregiver education with explicit thresholds for escalation.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5989045"},"PeriodicalIF":0.5,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13396428/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148583650","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":"Increased Incidence of Urinary Tract Infections in Newborns With Neonatal Opiate Withdrawal Syndrome Treated With Morphine and Clonidine: A Case Series With Supplemental Descriptive Cohort Data.","authors":"Alexandra A Richmond, M Cody Smith, Micah Butcher, Lesley Cottrell, Mark J Polak","doi":"10.1155/crpe/8825061","DOIUrl":"10.1155/crpe/8825061","url":null,"abstract":"<p><p>Neonatal opioid withdrawal syndrome has become a prevalent diagnosis with the rise of maternal substance use during pregnancy. Manifestation of this syndrome is characterized by altered activity of the central nervous system with symptoms including irritability, gastrointestinal dysfunction, and activation of the autonomic nervous system. There is currently no standardized pharmacological protocol for the treatment of this syndrome. Opioids such as morphine and methadone are first-line medications with clonidine as the recommended adjunct therapy. We observed increases in urinary tract infection in infants, especially male infants, with neonatal opioid withdrawal syndrome that were treated with morphine and clonidine. Urinary tract infection is uncommon among newborns and poses a significant risk to their health secondary to their immature renal and immune systems. We describe 4 cases in newborns treated with morphine and clonidine, prompting an investigation into the individual cases to highlight a potential association between clonidine exposure and urinary tract infection.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8825061"},"PeriodicalIF":0.5,"publicationDate":"2026-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13379939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148497275","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":"Incidental Detection of Acute Leukemia During Genetic Evaluation of Neurodevelopmental Disorder in a Pediatric Clinic: A Case Report.","authors":"Stephen G Jones","doi":"10.1155/crpe/1527918","DOIUrl":"10.1155/crpe/1527918","url":null,"abstract":"<p><p>A previously healthy 5-year-old boy presented to pediatric neurology for evaluation of recurrent migraine headaches with associated anxiety. Neurologic imaging was unremarkable, but clinical features consistent with autism spectrum disorder were noted. As part of standard-of-care ASD evaluation, SNP chromosomal microarray (CMA) on peripheral blood revealed a hypodiploid genome (∼35 chromosomes), suspicious for leukemia. Prompt notification led to repeat blood testing showing ∼30% circulating blasts. A diagnosis of acute leukemia was made, and constitutional CMA on buccal DNA showed a normal diploid male karyotype. This case illustrates the potential for ASD genetic testing to yield critical, incidental systemic findings and underscores the importance of rapid follow-up and interdisciplinary care.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"1527918"},"PeriodicalIF":0.5,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13373520/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148469141","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":"Hereditary Hyperferritinemia Cataract Syndrome Mimicking Iron Overload in a Pediatric Patient With Coexisting HFE H63D Homozygosity.","authors":"Yeşim Yiğit, Hamide Betül Gerik Çelebi","doi":"10.1155/crpe/7970734","DOIUrl":"10.1155/crpe/7970734","url":null,"abstract":"<p><strong>Background: </strong>Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant disorder caused by mutations in the FTL gene, characterized by elevated serum ferritin levels without systemic iron overload and early-onset cataract. Misinterpretation of hyperferritinemia may lead to unnecessary investigations and treatment.</p><p><strong>Case: </strong>We report a pediatric case with familial involvement in which hyperferritinemia was incidentally detected in a 9-year-old boy. Laboratory evaluation revealed markedly elevated serum ferritin levels with normal transferrin saturation and no evidence of systemic iron overload. Genetic analysis identified a heterozygous c.-161C > <i>T</i> mutation in the FTL gene. In addition, a homozygous HFE c.187C > <i>G</i> (p.His63Asp) variant was detected. Family screening revealed similar biochemical and genetic findings in multiple relatives, several of whom had bilateral cataracts.</p><p><strong>Conclusion: </strong>This case underscores the importance of considering HHCS in pediatric patients presenting with hyperferritinemia and normal transferrin saturation. The coexistence of FTL mutation and HFE H63D homozygosity appears to be incidental and should be interpreted cautiously. Recognition of this condition is essential to prevent unnecessary investigations and inappropriate treatment.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7970734"},"PeriodicalIF":0.5,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13366204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148444509","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":"Delayed Diagnosis of Pulmonary-Renal Syndrome Presenting as Chronic Hemoptysis Leading to ESRD.","authors":"Kalie Nuss, Katiana Garagozlo, Lilliana Barillas-Arias","doi":"10.1155/crpe/2910400","DOIUrl":"10.1155/crpe/2910400","url":null,"abstract":"<p><p>This case demonstrates the importance of recognizing the various presentations of MPA in pediatric patients and highlights the need for more documentation and discussion of MPA in the current literature in order to increase awareness of MPA and provide possible basis for future diagnostic criteria. MPA is known to primarily affect the kidneys and present with a variety of symptoms. Though pulmonary involvement is reported in some cases of MPA, it typically does not produce overt symptoms. In our case, chronic hemoptysis was the primary presentation of our patient's MPA, which introduces a unique consideration for clinical diagnosis. This atypical presentation led to a delay in diagnosis, which allowed our patient's disease to progress to ESRD. As more cases of MPA arise, it is essential to consider their presentations in order to assess and possibly formulate future diagnostic criteria which may help allow physicians to diagnose this condition earlier and avoid life-long complications in the pediatric population.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"2910400"},"PeriodicalIF":0.5,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13334450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148435181","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":"Orthodontic Extrusion of a Traumatically Intruded and Subsequently Ankylosed Incisor Following Surgical Luxation: A Case Report.","authors":"Kun Li, Deming Yu, Mengchao Chi, Mingna Tang","doi":"10.1155/crpe/2564793","DOIUrl":"10.1155/crpe/2564793","url":null,"abstract":"<p><strong>Background: </strong>The self-healing process following intrusive luxation of a tooth is often associated with serious complications, such as ankylosis. Once traumatic ankylosis is confirmed, spontaneous re-eruption of the intruded tooth is unlikely, and timely intervention is crucial to facilitate its repositioning.</p><p><strong>Case report: </strong>This case report details the systematic management of an adolescent patient with a traumatically intruded incisor. Ankylosis was diagnosed after the tooth showed no spontaneous re-eruption during monitoring and failed to respond to orthodontic traction. Surgical luxation was promptly performed, and the ankylosed incisor was effectively guided into position following subsequent orthodontic extrusion. Throughout the follow-up period, the treatment outcomes remained stable, with no adverse sequelae observed.</p><p><strong>Conclusion: </strong>This case report demonstrates that surgical luxation combined with orthodontic extrusion can be one of the effective approaches for realigning traumatically ankylosed permanent teeth.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"2564793"},"PeriodicalIF":0.5,"publicationDate":"2026-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13329111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148390046","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":"Severe Late-Onset Vitamin K Deficiency Bleeding Presenting With Subdural Hematoma and Seizures in a 4-Month-Old Infant: A Case Report From a Resource-Limited Setting.","authors":"Seyed Abdul Ahad Wadoodi, Mohammad Masudi, Ali Rahimi, Abdul Qasim Rahimi, Nasar Ahmad Shayan","doi":"10.1155/crpe/9370038","DOIUrl":"10.1155/crpe/9370038","url":null,"abstract":"<p><strong>Background: </strong>Vitamin K deficiency bleeding (VKDB) remains a preventable cause of severe hemorrhage in early infancy. Late-onset VKDB (2 weeks-6 months) most commonly presents with intracranial hemorrhage (ICH) and can result in death or long-term neurological sequelae. Although routine neonatal intramuscular vitamin K prophylaxis is highly effective, late VKDB may still occur in the presence of contributing factors such as infection or impaired vitamin K availability.</p><p><strong>Case presentation: </strong>A 4-month-old male infant presented with fever, cough, and poor appetite. He was delivered by cesarean section (birth weight 3200 g) and reportedly received 1-mg intramuscular vitamin K at birth. He was predominantly formula-fed with occasional breastfeeding and had no history of trauma or prior bleeding. Initial laboratory testing showed hemoglobin 9 g/dL and leukocytosis; sepsis with anemia was suspected, and intramuscular ceftriaxone was administered. Shortly after the first dose, he developed an expanding injection-site hematoma with active bleeding. Coagulation studies revealed profound coagulopathy (INR > 4, PT > 120 s, aPTT > 120 s), with a decline in hemoglobin to 6.3 g/dL. Parenteral vitamin K was given, leading to correction of coagulation parameters; however, seizures and deteriorating consciousness developed. Neuroimaging demonstrated a subdural hematoma with hypoxic-ischemic cerebral injury. The patient was managed in the intensive care unit with seizure control, blood transfusion, antimicrobial therapy, and supportive care. Seizures resolved and the neurological status returned to baseline. He was discharged after 10 days without apparent neurological deficits, with long-term neurodevelopmental follow-up advised.</p><p><strong>Conclusions: </strong>This case suggests probable late-onset VKDB presenting with life-threatening ICH despite reported neonatal vitamin K prophylaxis, while acknowledging that the complete exclusion of alternative causes of coagulopathy was limited by resource constraints. Clinicians should maintain a high index of suspicion for VKDB in infants with unexpected bleeding after minor procedures or intramuscular injections, particularly in the setting of intercurrent infection, and initiate prompt vitamin K therapy, coagulation assessment, and neuroimaging when indicated.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9370038"},"PeriodicalIF":0.5,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13318902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148367082","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":"Atypical Presentation of Rapidly Progressive Guillain-Barré Syndrome With Dysautonomia in an Adolescent With Persistent <i>Mycoplasma pneumoniae</i> Infection: A Case Report.","authors":"Madhu Parna Chakrabarti, Richard Sultan, Daniel Ruderfer, Katherine Hickey","doi":"10.1155/crpe/5766838","DOIUrl":"10.1155/crpe/5766838","url":null,"abstract":"<p><strong>Background: </strong>Guillain-Barré syndrome (GBS) is an acute immune-mediated polyradiculoneuropathy and the leading cause of acute flaccid paralysis in children. <i>Mycoplasma pneumoniae</i> is a frequent antecedent infection in pediatric GBS and has been associated with a severe, rapidly progressive course with heterogeneous neurologic manifestations, creating diagnostic and therapeutic challenges. We report here an atypical case of rapidly progressive GBS in an adolescent with persistent <i>M. pneumoniae</i> infection.</p><p><strong>Case report: </strong>A previously healthy 17-year-old female presented with rapidly progressive neurological deficits, including asymmetric proximal flaccid quadriparesis, hypophonia, absent gag reflex, and hyporeflexia, following <i>M. pneumoniae</i> infection treated with azithromycin. MRI and electrodiagnostic studies supported acute inflammatory demyelinating polyradiculoneuropathy. Despite intravenous immunoglobulin (IVIG), she deteriorated with bilateral facial palsy, ophthalmoplegia, dysautonomia, and respiratory failure due to persistent polymicrobial pneumonia requiring mechanical ventilation. The fulminant course showed overlapping features of multiple GBS variants. She received additional IVIG and subsequent plasmapheresis, resulting in gradual neurological improvement. She was discharged to inpatient rehabilitation following ventilator weaning with residual limb weakness and neurogenic bladder.</p><p><strong>Conclusion: </strong>This case underscores the diagnostic and therapeutic challenges of atypical, rapidly progressive GBS in pediatric patients with persistent <i>M. pneumoniae</i> infection and overlapping clinical features of multiple GBS variants. Concomitant dysautonomia, acute respiratory failure, and lack of response to IVIG further emphasize the importance of early recognition and meticulous supportive care. Given that <i>M. pneumoniae</i> is a leading trigger of severe pediatric GBS, clinicians should maintain a high index of suspicion and promptly initiate and adapt established therapies to optimize outcomes.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"5766838"},"PeriodicalIF":0.5,"publicationDate":"2026-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13317147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148359814","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}