Raja Imad Abu Iram, Abdulrahman Hussein Karaki, Hisham Dweik, Mohammad I Smerat
{"title":"Prenatal Detection and Neonatal Management of Tuberous Sclerosis Complex Compounded by Symptomatic Cardiac Arrhythmia.","authors":"Raja Imad Abu Iram, Abdulrahman Hussein Karaki, Hisham Dweik, Mohammad I Smerat","doi":"10.1155/crpe/1952300","DOIUrl":"10.1155/crpe/1952300","url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is a rare autosomal dominant syndrome affecting multiple organ systems through the development of benign hamartomas. We present a newborn female patient suspected antenatally of having TSC based on fetal echocardiography, which suggested cardiac rhabdomyomas; these findings were confirmed postnatally. The patient was managed with regular multidisciplinary follow-up and treated according to her presenting manifestations, including neonatal cardiac arrhythmias. This case highlights the importance of early genetic confirmation and proactive management of neonatal complications.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"1952300"},"PeriodicalIF":0.5,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13280804/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293516","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}
Rod Shinozaki, Paul Krogstad, Kristina Adachi, Yonca Bulut
{"title":"Severe Pulmonary Coccidioidomycosis Treated With Systemic Corticosteroids in an Adolescent Child.","authors":"Rod Shinozaki, Paul Krogstad, Kristina Adachi, Yonca Bulut","doi":"10.1155/crpe/6010113","DOIUrl":"10.1155/crpe/6010113","url":null,"abstract":"<p><p>Coccidioidomycosis (CM) is an emerging public health challenge due to an increasing number of cases in the U.S. Diagnosis may be challenging because of its nonspecific presentation, which may lead to treatment delays. In addition, the optimal management of severe pulmonary CM remains unclear. We present the case of an 18-year-old immunocompromised renal transplant recipient with a history of systemic lupus erythematosus who developed acute respiratory distress syndrome (ARDS) secondary to severe pulmonary CM. Following initiation of systemic corticosteroids treatment with standard-of-care antifungals, she demonstrated improved clinical response. Severe pulmonary CM may lead to a significant multiorgan inflammatory response in this infection. Our case explores corticosteroid treatment to downregulate this pathophysiologic process and help facilitate clinical resolution of the critical respiratory symptoms and limit morbidity associated with this infection.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6010113"},"PeriodicalIF":0.5,"publicationDate":"2026-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13280571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293533","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":"Neonatal Rectal Bleeding Due to Early-Onset Ileocecal Intussusception: A Case Report.","authors":"Malaz Elnagi Musa Elshiekh, Maysoun Mahmoud Almusaddar, Farida Mohsin Sulaiman Ambusaidi","doi":"10.1155/crpe/2932433","DOIUrl":"10.1155/crpe/2932433","url":null,"abstract":"<p><strong>Background: </strong>Intussusception is a well-recognized cause of intestinal obstruction in infants but is rare in neonates, particularly in preterm infants. Because its clinical presentation can resemble necrotizing enterocolitis (NEC), diagnosis may be delayed when imaging findings are nonspecific. Early recognition is important to prevent complications.</p><p><strong>Case presentation: </strong>A preterm infant born at 31 + 1 weeks of gestation was discharged on Day 22 after an initial course complicated by respiratory distress, sepsis, jaundice, and Grade I intraventricular hemorrhage (using Papile classification). On the 26<sup>th</sup> day, the infant presented with mild abdominal distension and a single episode of rectal bleeding, while vital signs and laboratory findings remained stable. Nevertheless, abdominal radiography was inconclusive. However, due to recurrent rectal bleeding, abdominal ultrasonography was performed and revealed an ileocecal intussusception with preserved vascularity. The infant was managed conservatively, and serial ultrasounds demonstrated spontaneous reduction with complete resolution of symptoms.</p><p><strong>Conclusion: </strong>Intussusception in preterm neonates may present with subtle clinical signs and can mimic NEC. When abdominal radiographs are inconclusive, ultrasonography plays a crucial role in establishing an early diagnosis and may allow successful conservative management, avoiding unnecessary surgical intervention.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"2932433"},"PeriodicalIF":0.5,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13277763/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293493","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 Telangiectasia Macularis Eruptiva Perstans in a Child: A Rare Vascular Phenotype of Cutaneous Mastocytosis.","authors":"Bouchra Baghad, Meriem Takiddine, Farida Marnissi, Soumiya Chiheb","doi":"10.1155/crpe/8849274","DOIUrl":"10.1155/crpe/8849274","url":null,"abstract":"<p><p>Telangiectasia macularis eruptiva perstans (TMEP) is a rare vascular phenotype of cutaneous mastocytosis predominantly reported in adults; pediatric cases are exceptional and are particularly difficult to recognize in darker skin phototypes. We report the case of a 4-year-old girl who presented with subtle brown macules and faint telangiectasias, in whom dermoscopy and histopathology confirmed TMEP despite a normal serum tryptase level. Symptomatic management with antihistamines and topical tacrolimus achieved a favorable clinical outcome. This case highlights the diagnostic challenges of TMEP in skin of color and underscores the need for structured long-term surveillance.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8849274"},"PeriodicalIF":0.5,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13273835/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148276203","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}
Vaibhav Duggal, Rachel Radigan, Alexa Finkelstein, Sheldon Yao
{"title":"Effects of Osteopathic Manipulative Treatment in a 3-Year-Old With Pitt-Hopkins Syndrome.","authors":"Vaibhav Duggal, Rachel Radigan, Alexa Finkelstein, Sheldon Yao","doi":"10.1155/crpe/1433787","DOIUrl":"10.1155/crpe/1433787","url":null,"abstract":"<p><p>Pitt-Hopkins Syndrome (PTHS) is a rare neurodevelopmental disorder caused by a mutation in the transcription factor 4 gene resulting in defective regulation of the enteric nervous system. With no cure, current management emphasizes the treatment of the associated comorbidities to improve day-to-day quality of life. Osteopathic manipulative treatment (OMT) has been implemented in the treatment of various gastrointestinal pathologies; however, there is limited literature on its use in the management of comorbidities associated with PTHS. Here, we present a case of a three-year-old female with PTHS that greatly benefited from the use of five OMT sessions to resolve her complaints of severe constipation, abdominal pain, discomfort, and muscle spasms. As reported by the mother, the patient became less restless, had minimal abdominal pain, and was having multiple daily bowel movements with a reduction of her previous biweekly enema regimen. All while bringing attention to PTHS, this case demonstrates the efficacy of utilizing OMT to manage its gastrointestinal comorbidities in hopes of incorporating it into the standard of care.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"1433787"},"PeriodicalIF":0.5,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13276280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148293570","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":"Retroperitoneal Teratoma in Newborn Mimicking Neuroblastoma With Rapid Growth.","authors":"Reina Murasawa, Daisuke Watanabe, Nobuyuki Katsumata, Hiroko Oshiro, Satoshi Shinohara, Rei Sunami, Tamami Fukatsu, Norio Hasuda, Yuka Yokota, Yukihiro Sugita, Koshi Akahane, Kumiko Goi, Atsushi Nemoto, Takeshi Inukai, Atsushi Naitoh","doi":"10.1155/crpe/9630009","DOIUrl":"10.1155/crpe/9630009","url":null,"abstract":"<p><p>Adrenal-region masses during the perinatal period are uncommon and may include neuroblastoma and teratoma. These two entities often show overlapping features on initial imaging. Differentiation is challenging because teratomas may initially lack visible fat or coarse calcification, whereas congenital neuroblastoma may present with normal catecholamine levels and no abnormal <sup>123</sup>I-MIBG uptake. In the present patient, a rapidly enlarging right suprarenal mass was identified during late gestation. The mass was initially interpreted as neuroblastoma based on its cystic-solid appearance and nonspecific biochemical findings. After birth, the mass continued to grow, and the initial postnatal evaluation was inconclusive, showing no abnormal MIBG uptake and normal catecholamine metabolites. However, serial imaging revealed time-dependent changes, including new calcification, emerging fatty components, and progressive enlargement, prompting reconsideration of the initial diagnosis. Complete resection confirmed an immature retroperitoneal teratoma without adrenal involvement. These observations illustrate that a retroperitoneal teratoma can closely mimic an adrenal neuroblastoma during the perinatal period, particularly during the fetal and early neonatal periods, when fat or calcification is not yet apparent. Time-dependent radiologic evolution is therefore a key diagnostic clue, and continuous fetal-to-neonatal imaging follow-up plays a crucial role in accurately distinguishing these tumors.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"9630009"},"PeriodicalIF":0.5,"publicationDate":"2026-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13274551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148276216","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":"When Infection Masquerades as Malignancy: Fatal Basidiobolomycosis Presenting as Suspected Rhabdomyosarcoma in a Child.","authors":"Emmanuella Amoako, Bashiru Babatunde Jimah, Lily Gloria Tagoe, Rebekah Ruth Taylor, Lydia Awuku, Percival Lomotey, Yemah Bockarie, Kofi Ulzen-Appiah, Benjamin Dabo Sarkodie, Loretta Inkoom","doi":"10.1155/crpe/8135826","DOIUrl":"10.1155/crpe/8135826","url":null,"abstract":"<p><strong>Background: </strong>Basidiobolomycosis is an uncommon fungal infection caused by <i>Basidiobolus ranarum</i>, primarily impacting immunocompetent children in tropical areas. Its indolent presentation and radiologic mimicking to soft tissue cancers often result in misdiagnosis and delayed antifungal treatment.</p><p><strong>Case presentation: </strong>We report the case of a 10-year-old child from a remote farming community in Ghana who had a 2-year history of a progressively increasing abdominal wall mass, severe malnutrition, and respiratory distress. The initial computed tomography scan suggested rhabdomyosarcoma. Laboratory tests showed severe anemia, hypoalbuminemia, and marked eosinophilia. Histopathology revealed pronounced granulomatous inflammation characterized by multinucleated giant cells and broad septate fungal hyphae, as evidenced by PAS and Grocott stains, thereby confirming basidiobolomycosis. Sadly, the child's condition deteriorated rapidly, with resultant demise prior to the commencement of antifungal treatment.</p><p><strong>Conclusion: </strong>Basidiobolomycosis could mimic a pediatric soft tissue sarcoma on imaging, particularly in endemic regions. Early clinical suspicion, early detection of eosinophilia, and timely biopsy are crucial to prevent diagnostic delays and enhance outcomes, particularly in resource-limited healthcare systems.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"8135826"},"PeriodicalIF":0.5,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13270216/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148270518","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}
Giulia Maisano, Antonio Ieni, Salvatore Arena, Valeria Zuccalà, Carmelo Sofia, Pietro Impellizzeri, Carmelo Romeo, Fabiola Cassaro
{"title":"Pediatric Pancreatic Pseudocyst Presenting as a Solid Perigastric Mass: An Uncommon Diagnostic Pitfall.","authors":"Giulia Maisano, Antonio Ieni, Salvatore Arena, Valeria Zuccalà, Carmelo Sofia, Pietro Impellizzeri, Carmelo Romeo, Fabiola Cassaro","doi":"10.1155/crpe/6364914","DOIUrl":"10.1155/crpe/6364914","url":null,"abstract":"<p><p>Pancreatic pseudocysts are rare in children and typically arise after episodes of pancreatitis or abdominal trauma. Their diagnosis generally relies on imaging studies, where they are expected to appear as fluid-filled collections. We describe a case of a 3-year-old girl who has no previous occurrences of pancreatitis or trauma, in whom an unexpected heterogeneous, hypoechoic perigastric mass was incidentally detected during an ultrasound examination. The lesion demonstrated a consistent, firm appearance during an 8-month follow-up period and continued to be without symptoms. Laboratory examinations, including pancreatic enzymes assay, returned normal results, and imaging studies could not determine its characteristics. A laparoscopic excision was conducted for both diagnostic and treatment reasons. Histological and immunohistochemical analysis confirmed the diagnosis of a pancreatic pseudocyst. Postoperative recovery was uneventful. This case demonstrates a rare solid appearance of a pancreatic pseudocyst in a child who does not have previous pancreatic disease, emphasizing the critical importance of histopathological examination and surgical intervention when imaging results are unclear.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"6364914"},"PeriodicalIF":0.5,"publicationDate":"2026-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13266080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148263316","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":"Reduction in Seizure Generalization Associated With Long-Term Low-Dose Immunomodulatory Therapy Using Prednisolone and Methotrexate in Rett Syndrome: A Case Report.","authors":"Naylya Djumaeva","doi":"10.1155/crpe/7163898","DOIUrl":"10.1155/crpe/7163898","url":null,"abstract":"<p><strong>Objective: </strong>Rett syndrome is a severe neurodevelopmental disorder most commonly associated with pathogenic variants of the <i>MECP2</i> gene and frequently accompanied by epilepsy. Seizures occur in a substantial proportion of patients and may be resistant to conventional antiepileptic therapy. Emerging evidence suggests that neuroinflammatory processes may contribute to seizure propagation and represent a potential therapeutic target.</p><p><strong>Case report: </strong>A girl born at term with initially normal early development is described. At approximately 2 years of age, she developed regression of speech and stereotypic hand movements, accompanied by seizures and other neurological features consistent with Rett syndrome. The patient received long-term therapy consisting of low-dose prednisolone and methotrexate in addition to anticonvulsant treatment. During follow-up, a reduction in seizure generalization and a shift in seizure pattern were observed, with generalized seizures becoming less frequent and replaced by brief focal seizures without secondary generalization.</p><p><strong>Conclusion: </strong>In this single case, long-term low-dose prednisolone and methotrexate therapy was associated with a reduction in seizure generalization. Although a causal relationship cannot be established, this observation supports the hypothesis that immunomodulatory mechanisms may influence seizure propagation in pharmacoresistant epilepsy.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7163898"},"PeriodicalIF":0.5,"publicationDate":"2026-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13263407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148249401","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}
Ahmad Hammad, Haya El Merkabaoui, Hicham Moukaddam, Mohammad Kassem, Claudia El Haddad, Rachid Haidar
{"title":"Atypical Bilateral Proximal Femoral Focal Deficiency: A Case Report and Review of Literature.","authors":"Ahmad Hammad, Haya El Merkabaoui, Hicham Moukaddam, Mohammad Kassem, Claudia El Haddad, Rachid Haidar","doi":"10.1155/crpe/7521784","DOIUrl":"10.1155/crpe/7521784","url":null,"abstract":"<p><strong>Introduction: </strong>Proximal femoral focal deficiency (PFFD) is a rare congenital skeletal abnormality with an incidence of 1 per 100,000 births. It is typically a unilateral abnormality but can present bilaterally in 15% of PFFD cases. It is characterized by the absence of the proximal femur and shortening of the affected limb henceforth. It is associated with other skeletal anomalies, and its radiographic appearance continues to progress with age. Treatment options vary widely from conservative approaches to surgical correction and stabilization. This report presents a case description and a review of diagnostic and management approaches.</p><p><strong>Case presentation: </strong>A 2-year-old girl presented with abnormal crawling, standing, and walking postures. On physical examination, the patient had unusual short bulky thighs with an apparent limb length discrepancy of 2.5 cm and the hips positioned in flexion, abduction, and external rotation, with bilateral knee flexion contractures. Radiographs showed focal deficiency of the proximal femurs bilaterally and shortening. MRI revealed bilateral severely dysplastic acetabula with dislocation of bilateral femurs and formation of pseudoacetabula. PFFD on the right is consistent with Aitken C (absent femoral head) and on the left with Aitken B (femoral head present but without an osseous connection between the head and shaft).</p><p><strong>Conclusion: </strong>Bilateral PFFD is a rare entity that is associated with a myriad of difficulties. It is crucial to acknowledge the importance of imaging-based diagnosis and individualized management tailored to imaging findings, possibly even within the same patient with bilateral asymmetric PFFD. A multidisciplinary approach is needed to discuss the treatment options available, aiming to restore a functional limb of adequate length and maintain quality of life.</p>","PeriodicalId":9623,"journal":{"name":"Case Reports in Pediatrics","volume":"2026 ","pages":"7521784"},"PeriodicalIF":0.5,"publicationDate":"2026-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13247305/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148216616","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}