{"title":"Aplasia Cutis Congenita Type V Associated With Fetus Papyraceus in a Dichorionic Diamniotic Twin Pregnancy.","authors":"Julie Baverman, Mariah Fleischman, David Brooks","doi":"10.1155/crpe/9504629","DOIUrl":"https://doi.org/10.1155/crpe/9504629","url":null,"abstract":"<p><p>A male neonate was born at 40 weeks and 3 days gestation with bilateral, stellate shaped truncal lesions, consistent with type V aplasia cutis congenita (ACC). The infant was the survivor of a dichorionic diamniotic twin pregnancy, with fetal demise documented at 13 weeks gestation. Here we present a unique case of ACC associated with fetal papyraceus, along with a review of the current literature on this heterogeneous group of disorders.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9504629"},"PeriodicalIF":0.7,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12052441/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966603","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":"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":"<p><p>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.</p>","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}
Dinesh V Hinge, Rajendra Saoji, Kiran Khedekar, Amar Taksande
{"title":"A Rare Presentation of Urethral Duplication in Conjunction With Anorectal Malformation Observed in a Male Infant.","authors":"Dinesh V Hinge, Rajendra Saoji, Kiran Khedekar, Amar Taksande","doi":"10.1155/crpe/4725606","DOIUrl":"https://doi.org/10.1155/crpe/4725606","url":null,"abstract":"<p><p>Anorectal malformation (ARM) refers to a group of congenital anomalies that affect the anus, rectum, and sometimes the urinary and reproductive tracts. A full-term male newborn was diagnosed with ARM and rectoperineal (scrotal) fistula during a first clinical screening examination at birth. He also had urethral duplication on the micturating cystourethrogram (MCUG) scan performed on Day 2 of life. The child underwent transverse colostomy at 24 h of life and corrective surgery (posterior sagittal anorectoplasty and urethroplasty) at 6 months of life, followed by colostomy closure after 3 months. This case highlights the importance of the first newborn clinical screening examination to rule out major congenital malformation and the thorough evaluation for associated urogenital defects in the case of ARM before definitive corrective surgeries for better clinical outcomes.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"4725606"},"PeriodicalIF":0.7,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12043384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964336","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}
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":"<p><p><b>Background:</b> 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. <b>Case Summary:</b> 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. <b>Practical Implications:</b> 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.</p>","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}
{"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":"<p><p>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.</p>","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}
{"title":"A Case of Pediatric Tracheal Stenosis Secondary to Chronic Retching in the Setting of Bulimia Nervosa.","authors":"Arpan Patel, Charles Saadeh","doi":"10.1155/crpe/9967394","DOIUrl":"https://doi.org/10.1155/crpe/9967394","url":null,"abstract":"<p><p>This report presents a case of acquired tracheal stenosis in a pediatric patient without a history of prolonged intubation. A 14-year-old female presented with a chief complaint of biphasic stridor and a medical history remarkable for bulimia nervosa and one year of self-induced vomiting. Endoscopic evaluation revealed Grade three tracheal stenosis. Lab work was unrevealing for acute inflammatory process nor vasculitis. Pathology was unremarkable. The patient tolerated primary dilation and second look did not reveal further stenosis. Her extensive workup failed to reveal an alternative etiology with a working hypothesis that the stenosis was a result of chronic retching due to bulimia.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"9967394"},"PeriodicalIF":0.7,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11871975/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540242","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}
Karolin C Hoefer, Lutz T Weber, Nathalie Jazmati, Michael J Noack, Anna Greta Barbe, Isabelle Graf
{"title":"Chronic Kidney Disease With Related Oral Health Problems and Alterations in the Tongue Microbiome Illustrated by a 15-Year-Old Girl: A Case Report.","authors":"Karolin C Hoefer, Lutz T Weber, Nathalie Jazmati, Michael J Noack, Anna Greta Barbe, Isabelle Graf","doi":"10.1155/crpe/1018472","DOIUrl":"10.1155/crpe/1018472","url":null,"abstract":"<p><p>Chronic kidney disease (CKD) is characterised by a gradual loss of kidney function over time and is often linked to oral health issues. This case illustrates typical conditions in young CKD patients based on a 15-year-old girl with CKD stage 4 and methylmalonic aciduria, severe gingivitis and hyperplasia of the gingiva, and a need for orthodontic treatment. Oral hygiene interventions, homecare instructions and deep cleaning under antibiotic shielding were necessary to improve the patient's oral health. The immediate worsening of oral health status after extending the interval between regular prophylaxis appointments highlights the need for intensive prevention in young CKD patients to control oral health disorders. This report aims to demonstrate burden-of-care-reducing oral prophylaxis options for patients suffering from severe CKD with oral manifestations. <b>Trial Registration:</b> German Registry of Clinical Trials: DRKS00010580.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"1018472"},"PeriodicalIF":0.7,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11858826/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143499389","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}
Nicolas Sandakly, Georgio El Koubayati, Jeannette Sarkis, Fady Haddad
{"title":"Pediatric Red Ear Syndrome Misdiagnosed as Relapsing Polychondritis: A Case Report and Review of Literature.","authors":"Nicolas Sandakly, Georgio El Koubayati, Jeannette Sarkis, Fady Haddad","doi":"10.1155/crpe/6464822","DOIUrl":"10.1155/crpe/6464822","url":null,"abstract":"<p><p>Red ear syndrome (RES) is a rare clinical entity presenting with paroxysmal erythema of one or both ears associated with a burning sensation or earache. The onset of symptoms could be either spontaneous or triggered by touch, stress, coughing, sneezing, neck movements, chewing, and combing hair. While most cases are usually described in adults, it can rarely present in children. This article reports a case of pediatric RES, first misdiagnosed as relapsing polychondritis. The patient's condition improved after introduction of ibuprofen, isoptin, and amitriptyline, with no new attacks reported after a 1 year follow up.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2025 ","pages":"6464822"},"PeriodicalIF":0.7,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11772057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058290","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":"Parents Know Best: Uncovering a Rare Allergy During Anesthesia Consultation.","authors":"Charlotte Thirion, Françoise Pirson, Mona Momeni","doi":"10.1155/crpe/4314186","DOIUrl":"10.1155/crpe/4314186","url":null,"abstract":"<p><p>A 17-month-old child presented for an anesthesia consultation before planned plagiocephaly correction one week later. The medical history by the mother reported an episode of facial redness after administering atropine-based eye drops when the child was 9 months old. Based on this information, the anesthesiologist decided to postpone the surgery and conduct an allergy assessment. Skin tests performed by a pneumo-allergologist in a hospital setting were positive for atropine. Atropine, a frequently utilized drug in anesthesiology, is rarely associated with allergic reactions, particularly in pediatric patients, as evidenced by poor prior descriptions. This case report underscores the pivotal role of preoperative anesthesia consultations and the significance of attentively considering parental perspectives. Allergy testing can be fastidious in infants, and postponing surgery can be challenging, but in our case, it allowed for a safe procedure and no adverse reactions.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"4314186"},"PeriodicalIF":0.7,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11695076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920884","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}
Zilefac Brian Ngokwe, Ntep Ntep David Bienvenue, Nokam Kamdem Stephane, Noubissie Audrey Sandra, Bola Antoine Siafa
{"title":"Hendrickson Class II Palatal Fracture Following a Road Trauma Accident in a Pediatric Patient.","authors":"Zilefac Brian Ngokwe, Ntep Ntep David Bienvenue, Nokam Kamdem Stephane, Noubissie Audrey Sandra, Bola Antoine Siafa","doi":"10.1155/crpe/7045357","DOIUrl":"10.1155/crpe/7045357","url":null,"abstract":"<p><p>Pediatric palatal fractures are rare clinical presentations owing to the relative plasticity of their bones. We present a case of a 3-year-old pedestrian struck male patient presenting with a mid-sagittal palatal fracture which corresponds to a Hendrickson class II fracture. Diagnosis and treatment of these rare cases are very critical to ensuring proper manducatory functions and normal facial growth in these children.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2024 ","pages":"7045357"},"PeriodicalIF":0.7,"publicationDate":"2024-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11655138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853100","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}