Case Reports in Pediatrics最新文献_第2页

Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature. 皮尔森综合征的临床及骨髓形态特征：关于连续3例病例及文献复习。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-05-18 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/3076141

Gaetan-Nagim Degroot, Aurélie Empain, Laurence Dedeken, Anne Demulder, Laurence Rozen

{"title":"Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature.","authors":"Gaetan-Nagim Degroot, Aurélie Empain, Laurence Dedeken, Anne Demulder, Laurence Rozen","doi":"10.1155/crpe/3076141","DOIUrl":"10.1155/crpe/3076141","url":null,"abstract":"Pearson syndrome (PS) is a rare and fatal multisystem disorder caused by a mitochondrial DNA (mtDNA) deletion. Most patients develop refractory anemia in early infancy, rapidly followed by multiple complications such as failure to thrive, muscle hypotonia, pancreatic insufficiency, and renal tubulopathy. Although the definitive diagnosis is established by mtDNA sequencing, bone marrow (BM) cytology is a cornerstone of diagnosis, typically revealing precursor vacuolization and ring sideroblasts. We report here three cases of patients with PS encountered in our institution and summarize the clinical and hematological features of PS through a systematic review of the literature. The first symptoms mostly appear during the first month of life and rarely after 18 months. Hyporegenerative anemia, a hallmark of the disease, is the most common initial symptom, followed at a distance by neutropenia and thrombocytopenia. Gastrointestinal and metabolic symptoms such as failure to thrive and lactic acidosis are the most frequent non-hematological symptoms, even in the rare cases without hyporegenerative anemia. Vacuolization of BM precursors, observed in the vast majority of PS patient BMAs, is not influenced by the patient's age at sampling. Ring sideroblasts, the other feature of PS BMAs, are less frequent than progenitor vacuolization but increase significantly after 6 months of age. These abnormalities are just as common in patients with or without hematological symptoms, suggesting that BMA should be performed in all suspected PS cases, despite the absence of anemia. PS is a multisystem disorder requiring early diagnosis and a coordinate multidisciplinary management, involving clinicians and clinical biologists.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"3076141"},"PeriodicalIF":0.7,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149321","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}

引用次数: 0

First Reported Case of Iatrogenic Cardiac Tamponade Following Chest Drain Insertion for Tension Pneumothorax in a Premature Newborn. 早产儿紧张性气胸胸管插入后发生医源性心包填塞1例。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-05-18 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/7960753

Daniel Grandmougin, Pan Dan, François Wurtz, Olivier Larmure, Constanta Birliga, Jean-Marc Jellimann, Nathan Giroux, Gilles Bosser, Juan-Pablo Maureira

引用次数: 0

Successful Treatment of Bladder Fungus Ball Due to Candida auris With Systemic/Local Amphotericin B and Surgical Excision. 全身/局部两性霉素B联合手术切除成功治疗耳念珠菌所致膀胱真菌球。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-05-11 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/9741756

Yağmur Erkol Yilmaz, Merve Havan, Eda Eyduran, Nilay Penezoğlu, Duygu Öcal, Serap Teber, Ergin Çiftçi, Yakup Tarkan Soygür, Tanıl Kendirli

{"title":"Successful Treatment of Bladder Fungus Ball Due to Candida auris With Systemic/Local Amphotericin B and Surgical Excision.","authors":"Yağmur Erkol Yilmaz, Merve Havan, Eda Eyduran, Nilay Penezoğlu, Duygu Öcal, Serap Teber, Ergin Çiftçi, Yakup Tarkan Soygür, Tanıl Kendirli","doi":"10.1155/crpe/9741756","DOIUrl":"10.1155/crpe/9741756","url":null,"abstract":"Fungal infections in the urine are rare in healthy individuals but can occur in patients with diabetes, immunosuppression, urinary catheterization, prolonged hospital stays, and the use of broad-spectrum antibiotics. The most common strain is Candida, with Candida albicans being the most prevalent. Candida auris is a new emerged and severe, contagious species of Candida family especially in critically ill patients. We present a case of a 17-year-old male with neuromyelitis optica spectrum disorder who developed a fungus ball in the bladder. Despite multiple antibiotic therapies, persistent fevers led to the diagnosis of Candida auris and the detection of a fungus ball in the bladder. The patient was successfully treated with caspofungin, cystoscopy for total excision of the fungus ball, and intravesical liposomal amphotericin B. This case underscores the importance of early diagnosis and treatment of fungus balls to prevent complications such as obstructive complications and fungal urosepsis. In conclusion, identifying risk factors, such as immune dysregulation, prolonged PICU stay, mechanical ventilation, urinary catheter, and antibiotic use, is crucial in managing such cases.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9741756"},"PeriodicalIF":0.7,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101488","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}

引用次数: 0

A Rare Presentation of NEC and High Grade IVH in a Near-Term, Normal Weight Baby With Positive Thrombophilia Profile: Case Report. 近期出现NEC和高级别IVH的罕见病例，正常体重的婴儿有阳性的血栓倾向：病例报告。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-05-02 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/8889033

Maria Amr, Raja Imad Abu Iram, Ehab Mohammad Abuawwad, Iyad Zuhair Jabari, Areen H Qunaibi, Walaa Altamimi, Ahmad Abu Sharkh

引用次数: 0

Aplasia Cutis Congenita Type V Associated With Fetus Papyraceus in a Dichorionic Diamniotic Twin Pregnancy. 双绒毛膜双羊膜双胎妊娠与胎儿纸赘相关的V型先天性皮肤发育不全。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-04-28 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/9504629

Julie Baverman, Mariah Fleischman, David Brooks

引用次数: 0

Novel Presentation of Sturge-Weber Syndrome in a Boy With a Port-Wine Birthmark. 一个有波特酒胎记的男孩的斯特奇-韦伯综合征的新表现。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-04-25 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/6665247

Barbara Anna Folga, Ramzan Shahid

{"title":"Novel Presentation of Sturge-Weber Syndrome in a Boy With a Port-Wine Birthmark.","authors":"Barbara Anna Folga, Ramzan Shahid","doi":"10.1155/crpe/6665247","DOIUrl":"https://doi.org/10.1155/crpe/6665247","url":null,"abstract":"Sturge-Weber Syndrome (SWS), also called encephalotrigeminal angiomatosis, is a rare congenital neurological condition classified by the hallmark findings of a port-wine birthmark, leptomeningeal angiomas, and glaucoma. Here, we present a case of a two-year-old patient with a history of a left-sided port-wine birthmark involving the V1-V2 dermatomes who re-presented to the emergency department with focal right-sided seizure-like activity in the setting of a recent head trauma. The patient was admitted for further workup, where video electroencephalography demonstrated the presence of electrographic seizures developing from the left posterior quadrant, with continuous focal slowing over the left hemisphere, and with magnetic resonance venography revealing findings concerning for a pial angiomatosis. This finding, coupled to new-onset seizure-like activity in a patient with a port-wine birthmark, supported a diagnosis of SWS. He was started on an antiepileptic drug regimen with resolution of seizure-like activity while inpatient and his subsequent care was transferred to a specialized clinic designed to manage patients with SWS. Most patients diagnosed with SWS exhibit seizure-like activity, often presenting as infantile spasms, within the first year of life; our patient, on the other hand, began to exhibit focal seizures following a traumatic event and was later found to harbor findings consistent with SWS. Overall, this case highlights the role of a multidisciplinary team in the management of patients with SWS and demonstrates the importance of routine follow-up testing, imaging, and subspecialty care for these patients.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"6665247"},"PeriodicalIF":0.7,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12048183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966442","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}

引用次数: 0

A Rare Presentation of Urethral Duplication in Conjunction With Anorectal Malformation Observed in a Male Infant. 一例罕见的男婴尿道重复并肛门直肠畸形。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-04-23 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/4725606

Dinesh V Hinge, Rajendra Saoji, Kiran Khedekar, Amar Taksande

引用次数: 0

Psychiatric Adverse Effects From Prucalopride in a Medically Complex Adolescent. 普芦卡必利对一个医学复杂青少年的精神不良反应。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-04-01 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/6639748

Clare Hawkes, Jonathan J Chandran, Kasia Kozlowska

{"title":"Psychiatric Adverse Effects From Prucalopride in a Medically Complex Adolescent.","authors":"Clare Hawkes, Jonathan J Chandran, Kasia Kozlowska","doi":"10.1155/crpe/6639748","DOIUrl":"10.1155/crpe/6639748","url":null,"abstract":"Background: Prucalopride is a highly selective, 5-HT4 receptor agonist that can be used for the treatment of chronic constipation in individuals for whom laxatives fail to provide adequate relief. The current case study describes adverse neuropsychiatric symptoms following the administration of prucalopride in a 15-year-old female with a complex physical and mental health history to manage chronic constipation. Case Summary: A single 2 mg dose of prucalopride was prescribed to a 15-year-old female to manage her chronic constipation due to a diagnosis of autoimmune enteric neuropathy. Following the oral administration of prucalopride, the patient started experiencing visual and auditory hallucinations, along with suicidal ideation. Prucalopride was ceased, with the patient receiving psychopharmacology and psychological intervention to address the acute onset psychiatric symptoms. Practical Implications: To our knowledge, this is the second documented case of acute onset neuropsychiatric symptoms following the administration of prucalopride. Clinicians should be aware of this possible side effect, particularly if considering administering prucalopride in patients with neurodevelopmental and psychiatric comorbid histories. Increased supervision and monitoring is recommended in these patients if prucalopride is administrated.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"6639748"},"PeriodicalIF":0.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11978475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143810549","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}

引用次数: 0

Childhood Posterior Reversible Encephalopathy Syndrome (PRES) in Resource Limited Settings: Addressing Diagnostic and Therapeutic Hurdles-A Case Report. 儿童后部可逆性脑病综合征（PRES）在资源有限的环境：解决诊断和治疗障碍-一个病例报告。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-03-27 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/9444554

Bipesh Kumar Shah, Sadmarg Thakur, Prajjwol Luitel, Roshan Gaire

{"title":"Childhood Posterior Reversible Encephalopathy Syndrome (PRES) in Resource Limited Settings: Addressing Diagnostic and Therapeutic Hurdles-A Case Report.","authors":"Bipesh Kumar Shah, Sadmarg Thakur, Prajjwol Luitel, Roshan Gaire","doi":"10.1155/crpe/9444554","DOIUrl":"10.1155/crpe/9444554","url":null,"abstract":"Posterior reversible encephalopathy syndrome (PRES) is a condition that manifests with symptoms like altered mental status, seizures, vision impairment, and vasogenic edema primarily affecting the occipital and parietal lobes, with occasional involvement of the frontoparietal regions. We report a case of a 10 year old girl who arrived at the pediatric emergency department with generalized swelling, dark-colored urine, and two days of seizures following recent throat infection. Her blood pressure consistently exceeded the 95th percentile by +12 mm Hg, indicating stage 2 hypertension. A computed tomography (CT) scan showed hypodensities (edema) in the parieto-occipital white matter, consistent with PRES. Due to limited resources, magnetic resonance imaging (MRI) could not be performed. The patient was treated symptomatically with levetiracetam for seizures and furosemide and amlodipine for hypertension. By the fifth day of hospitalization, the patient experienced significant improvement, with a return to normal appetite, urine color, and neurological function. Early diagnosis contributed to her full recovery. Physicians in resource limited settings should have high degree of suspicion of pediatric PRES and perform detailed history taking, examination, laboratory investigations and imaging (whenever available) for management of pediatric PRES.","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9444554"},"PeriodicalIF":0.7,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11968148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779320","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}

引用次数: 0

A Case of Pediatric Tracheal Stenosis Secondary to Chronic Retching in the Setting of Bulimia Nervosa. 神经性贪食症儿童气管狭窄继发慢性干呕1例。

IF 0.7

Case Reports in Pediatrics Pub Date : 2025-02-22 eCollection Date: 2025-01-01 DOI: 10.1155/crpe/9967394

Arpan Patel, Charles Saadeh

引用次数: 0