World journal of clinical pediatrics最新文献

{"title":"Rare coexistence of aldosterone resistance and adrenal insufficiency in asymptomatic infant with persistent hyperkalaemia: A case report.","authors":"Fazila H Wan-Nik, Hani A Zulkeflee, Nadirah S Ab Rahim, Salwani T Tuan-Ismail","doi":"10.5409/wjcp.v15.i2.113666","DOIUrl":"10.5409/wjcp.v15.i2.113666","url":null,"abstract":"<p><strong>Background: </strong>Hyperkalaemia is a potentially life-threatening electrolyte disturbance, most commonly encountered in neonates and infants with renal or endocrine abnormalities. Persistent hyperkalaemia in an otherwise clinically well child is unusual and warrants careful investigation. This case illustrates a rare coexistence of pseudohypoaldosteronism and adrenal insufficiency in an otherwise well infant, presenting solely with persistent hyperkalaemia.</p><p><strong>Case summary: </strong>We report a 6-month-old male infant who was incidentally found to have persistent hyperkalaemia during hospitalisation for acute bronchiolitis. He remained asymptomatic, with no clinical or electrocardiographic features of hyperkalaemia. Laboratory investigations revealed persistent hyperkalaemia with normal serum sodium and chloride levels, low serum bicarbonate, elevated serum aldosterone, and suppressed plasma renin activity which consistent with features of aldosterone resistance. Further testing demonstrated low basal serum cortisol with inadequate response to synacthen stimulation, while serum 17-hydroxyprogesterone levels were normal, excluding congenital adrenal hyperplasia. The child was managed with hydrocortisone, high-dose fludrocortisone, and potassium-binding resins, with subsequent improvement.</p><p><strong>Conclusion: </strong>This case illustrates a rare coexistence of aldosterone resistance and adrenal insufficiency in an otherwise well infant, presenting solely with persistent hyperkalaemia. It emphasises the importance of considering overlapping endocrine pathologies and highlights the need for early hormonal profiling in infants with unexplained electrolyte disturbances.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"113666"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140257","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":"Nutritional status of children with heart disease attending outpatient clinic at a tertiary health center in Lagos.","authors":"Adeola Barakat Animasahun, Olubukola Ransome-Kuti, Efe Soyele, Goodness Adejare Animasahun, Peter Ubuane, Adedayo Ariyibi, Cleo Hughes-Darden, Olisamedua Fidelis Njokanma","doi":"10.5409/wjcp.v15.i2.118127","DOIUrl":"10.5409/wjcp.v15.i2.118127","url":null,"abstract":"<p><strong>Background: </strong>Malnutrition is a well-recognized complication of pediatric heart disease, resulting from increased metabolic demands, feeding difficulties, and recurrent illness. It contributes significantly to poor growth, impaired immunity, increased susceptibility to infections, and adverse clinical outcomes, including higher perioperative risk. Assessing nutritional status in this population is therefore essential for optimizing management and long-term prognosis.</p><p><strong>Aim: </strong>To assess the nutritional status of children with heart disease attending an outpatient clinic in Lagos and compare it with that of healthy controls.</p><p><strong>Methods: </strong>This hospital-based cross-sectional study was conducted from February 2024 to August 2024 at Lagos State University Teaching Hospital. Seventy children aged 7-16 years with diagnosed heart disease were recruited and matched by age, sex, and socioeconomic status with 70 apparently healthy controls. Nutritional assessment included weight, height, and body mass index with indices expressed as World Health Organization Z-scores. Data were analyzed using SPSS version 24, with <i>P</i> < 0.05 considered statistically significant.</p><p><strong>Results: </strong>The mean age of participants was 10.5 ± 2.7 years, with a slight female predominance. Children with heart disease had significantly lower weight-for-age, height-for-age, and body mass index-for-age Z-scores compared to controls (<i>P</i> < 0.05). Overall, 48.6% of children with heart disease were malnourished <i>vs</i> 4.3% of controls. Within the heart disease group, poorer nutritional status appeared more common among children with complex or uncorrected lesions and those with frequent hospitalizations.</p><p><strong>Conclusion: </strong>Children with heart disease had significantly poorer nutritional indices than their healthy peers, underscoring the need for routine nutritional assessment and targeted interventions. Early corrective surgery and proactive nutritional support may improve outcomes in this vulnerable group.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"118127"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13220218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140192","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":"Integrating family values into antenatal consultations: An observational study on structured communication training curriculum for neonatal care providers.","authors":"Deborah F Katurura, Camara Van Breemen, Nadine Lusney, Emily Kieran, Tom Wiebe, Susan Albersheim, Deepak Manhas, Maya Dahan, Sandesh Shivananda","doi":"10.5409/wjcp.v15.i2.118963","DOIUrl":"10.5409/wjcp.v15.i2.118963","url":null,"abstract":"<p><strong>Background: </strong>Despite growing recognition of the importance of structured communication training, no formal curricula existed to equip neonatal-care providers with the skills needed to elicit and incorporate family values into antenatal consultations. A local review found that 80% of consult notes for anticipated extreme preterm births lacked documentation of family context, beliefs and values, with the absence of dedicated training identified as a key barrier.</p><p><strong>Aim: </strong>To develop, implement and evaluate a structured, evidence-informed training curriculum in family values elicitation and integration during antenatal neonatal consults.</p><p><strong>Methods: </strong>Neonatal fellows took part in this prospective, single-center observational study (June to December 2024), which was part of a larger quality improvement initiative. The curriculum incorporated established communication strategies, including structured conversation aids, decision-making frameworks and simulative role-play reflecting both decision-making and non-decision-making scenarios. The team delivered a two-hour workshop, with participants completing pre- and post-workshop surveys assessing experience and perceived confidence in communication competencies.</p><p><strong>Results: </strong>Of the thirteen eligible fellows, eleven and one neonatologist took part; twelve completed the pre-workshop survey; ten completed the post-workshop survey. Over 90% agreed or strongly agreed that the workshop materials were user-friendly, relevant, and reflective of real-world scenarios. Participants reported significant improvements in perceived confidence across five targeted communication domains: Eliciting family values, leading shared decision-making conversations, addressing parental concerns, documentation practices, and integrating values into actionable care plans (<i>P</i> < 0.0001).</p><p><strong>Conclusion: </strong>A contextually relevant training curriculum successfully enhanced neonatal trainees' self-reported confidence in performing communication tasks in family values elicitation and integration during antenatal neonatal consults.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"118963"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217218/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140130","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":"Food protein-induced enterocolitis syndrome in children: An updated review on pathogenesis, diagnosis, and management.","authors":"Khadija Alshehhi, Rahaf Abughosh, Gawahir Abdelrahman, Abdalqader Abujouda, Ahmed Elghoudi, Rana Bitar","doi":"10.5409/wjcp.v15.i2.112843","DOIUrl":"10.5409/wjcp.v15.i2.112843","url":null,"abstract":"<p><p>Food protein-induced enterocolitis syndrome (FPIES) is a severe non-IgE-mediated food allergy with unclear prevalence and pathophysiology. FPIES typically presents in the first year of life but can present later in adulthood in an acute or chronic manner. Acute FPIES manifests 1-4 hours after ingestion of foods such as rice, oats, and cow's milk, causing repetitive vomiting, diarrhea, lethargy, dehydration, and hypovolemic shock. Interestingly, affected infants are generally mistakenly diagnosed with sepsis or viral gastroenteritis. Chronic FPIES presents with episodic vomiting, watery diarrhea, and poor growth, potentially leading to dehydration and hypovolemic shock over days to weeks in infants under 3 months who are receiving cow's milk or soy formula. Unlike classic food allergies, FPIES does not present with rash, urticaria, or respiratory symptoms, and specific blood IgE and skin prick tests are negative for the culprit food. While most cases resolve by the age of 3-5 years, some may persist into adulthood, particularly in individuals allergic to cow's milk and soy. Aside from avoiding offending foods, no specific treatment exists. The first international consensus guideline for diagnosing and managing FPIES was established in 2017, marking a vital advancement in the field. However, further research is needed to better understand the pathogenesis, diagnosis, and treatment options for the disease.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"112843"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140190","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":"Ultrasound hepatic elastography: A non-invasive indicator of insulin resistance in the pediatric population: A systematic review.","authors":"Reem M Elbeltagi, Nermin K Saeed, Adel S Bediwy, Mohammed Al-Beltagi","doi":"10.5409/wjcp.v15.i2.115963","DOIUrl":"10.5409/wjcp.v15.i2.115963","url":null,"abstract":"<p><strong>Background: </strong>Insulin resistance (IR) plays a pivotal role in the pathogenesis of metabolic dysfunction-associated steatotic liver disease. While non-invasive imaging methods are increasingly used in pediatrics, the extent to which hepatic elastography reflects IR in children remains unclear.</p><p><strong>Aim: </strong>To evaluate the association between ultrasound-based hepatic elastography parameters and clinical indices of IR in the pediatric population.</p><p><strong>Methods: </strong>A systematic search of PubMed, Scopus, and Web of Science databases was conducted through October 2025. Studies assessing correlations between elastography parameters - controlled attenuation parameter (CAP) and liver stiffness measurement (LSM) - and IR indices were included. Data were pooled using random-effects meta-analysis with correlation coefficients (<i>r</i>) as the primary effect size. Subgroup and sensitivity analyses examined differences by IR index, cohort characteristics, and elastography modality.</p><p><strong>Results: </strong>Sixteen studies, encompassing 2,032 children and adolescents, were included. The pooled correlation between hepatic elastography (CAP/LSM) and IR indices was <i>r</i> = 0.44 (95% confidence interval: 0.38-0.50; <i>I</i> ² = 72%), indicating a moderate positive association. The strongest correlations were observed for adipose tissue IR (<i>r</i> = 0.65) and the metabolic score for IR (<i>r</i> = 0.49), surpassing simpler indices such as homeostatic model assessment of IR. CAP correlated moderately with early steatosis (<i>r</i> = 0.30-0.40), whereas LSM showed stronger associations with advanced fibrosis and systemic IR (<i>r</i> = 0.50-0.65). Heterogeneity was mainly attributed to differences in disease severity and measurement methods.</p><p><strong>Conclusion: </strong>Ultrasound-based hepatic elastography provides a reliable, non-invasive surrogate for systemic metabolic dysfunction in pediatric metabolic dysfunction-associated steatotic liver disease. CAP reflects early, reversible hepatic fat accumulation, while LSM reflects more advanced fibrosis and systemic IR, and identifies fibrotic progression driven by chronic IR. The strongest associations with adipose tissue-IR and metabolic score-IR highlight the systemic, multisite nature of pediatric IR. Elastography thus holds promise as an integrated biomarker for IR severity, early risk stratification, and therapeutic monitoring in children and adolescents with metabolic risk factors.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"115963"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217217/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140233","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":"Distinct early gut microbiota patterns by delivery mode within 100 hours of birth.","authors":"Palittiya Sintusek, Pavit Klomkliew, Suthida Visedthorn, Kittima Phutthawong, Tanawan Noicharoen, Areewan Soontornsook, Duc Long Tran, Sunchai Payungporn","doi":"10.5409/wjcp.v15.i2.117841","DOIUrl":"10.5409/wjcp.v15.i2.117841","url":null,"abstract":"<p><strong>Background: </strong>Disruptions in the early-life gut microbiome have been reported to be associated with various health conditions. However, few studies have investigated the establishment of the gut microbiota in the immediate postnatal period.</p><p><strong>Aim: </strong>To characterize the gut microbiota of neonates within the first 100 hours after birth.</p><p><strong>Methods: </strong>A total of 512 healthy neonates born at a tertiary hospital were enrolled in this study. Stool samples were collected between March 2024 and December 2024 and categorized by delivery mode and stool collection time. Microbiota diversity and composition were assessed using full-length 16S rDNA sequencing. Stool samples from 140 neonates with predominant breastfeeding were analyzed.</p><p><strong>Results: </strong>Of the 140 neonates, 70 (50%) were female, 66 (47.1%) were delivered by vaginal delivery (VD), 74 (52.9%) were delivered by cesarean section (CS), and 87 (62.1%) were firstborn. The time of stool collection ranged from 13.2 minutes to 109.82 hours. A significant difference in the time of stool collection was observed between CS and VD neonates (43.0 hours; 95%CI: 35.8-50.1 <i>vs</i> 32.4 hours; 95%CI: 27.8-36.9; <i>P</i> = 0.016). Gut microbiota analysis revealed that CS was associated with higher alpha diversity (Chao1 and Shannon indices; <i>P</i> < 0.001) and beta diversity (<i>P</i> < 0.001). A reduction in the gut microbiota diversity was observed 48 hours after birth <i>(P</i> < 0.001). <i>Escherichia coli</i> predominated in the VD samples. <i>Bifidobacterium</i> species, including <i>Bifidobacterium longum</i>, <i>Bifidobacterium pseudocatenulatum</i>, and <i>Bifidobacterium bifidum</i>, emerged significantly 48 hours after birth. CS neonates exhibited a higher relative abundance of skin- and environmental-associated taxa, including <i>Staphylococcus</i>, <i>Streptococcus</i>, and <i>Pseudomonas</i>, and markedly reduced colonization by <i>Bifidobacterium</i> species despite predominant breastfeeding.</p><p><strong>Conclusion: </strong>Despite predominant breastfeeding, CS neonates showed reduced colonization by <i>Bifidobacterium</i> and a greater abundance of skin- and environment-associated taxa within the first 100 hours of life. These findings indicate that delivery mode can be a key determinant of early microbial assembly and highlight the need for targeted strategies to support the establishment of beneficial microbiota in CS-delivered infants.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"117841"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140119","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":"Pediatric migraine: Neurodevelopmental mechanisms, clinical phenotypes, and modern therapeutics.","authors":"Mohammed Al-Beltagi","doi":"10.5409/wjcp.v15.i2.119843","DOIUrl":"10.5409/wjcp.v15.i2.119843","url":null,"abstract":"<p><p>Migraine is among the most prevalent neurological disorders in children and adolescents and is a leading cause of functional disability, school absenteeism, and impaired quality of life. Pediatric migraine is not merely a younger manifestation of the adult disease; rather, it exhibits distinct clinical phenotypes, developmental neurobiology, triggers, and treatment responses. The growing recognition of its long-term burden underscores the need for updated, pediatric-focused, evidence-based guidance. This narrative review synthesizes contemporary evidence on pediatric migraine across the lifespan, integrating epidemiology, genetic susceptibility, and age-dependent neurobiological mechanisms. Key clinical features, including migraine equivalents and episodic syndromes associated with migraine, are discussed alongside diagnostic considerations using the International Classification of Headache Disorders, third edition, and validated pediatric disability assessment tools. Acute and preventive management strategies are reviewed in detail, encompassing optimized use of non-steroidal anti-inflammatory drugs and triptans, antiemetics, nerve blocks, neuromodulation devices, and emerging targeted therapies such as calcitonin gene-related peptide monoclonal antibodies and gepants. Evidence-based non-pharmacological interventions, including lifestyle optimization, sleep hygiene, cognitive-behavioral therapy, and comorbidity management, are also integral components of care. Pediatric migraine should be recognized as a chronic, neurodevelopmentally modulated neurological disorder that warrants early diagnosis and a multimodal, individualized treatment approach. Advances in mechanistic understanding, neurostimulation technologies, and targeted biologic therapies are reshaping the therapeutic landscape and hold promise for more precise and effective migraine management in children and adolescents.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"119843"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140206","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":"Duchenne muscular dystrophy coexisting with Down syndrome or Turner syndrome: Two case reports.","authors":"Peerada Pongsakornkullachart, Mongkol Chanvanichtrakool, Dhachdanai Dhachpramuk, Theeraphong Pho-Iam, Nattha Yongwattana, Pimchanok Kulsirichawaroj, Jantima Tanboon, Oranee Sanmaneechai","doi":"10.5409/wjcp.v15.i2.116726","DOIUrl":"10.5409/wjcp.v15.i2.116726","url":null,"abstract":"<p><strong>Background: </strong>Dystrophinopathies are X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene (<i>DMD</i>). Down syndrome (DS) and Turner syndrome (TS) are well-characterized chromosomal conditions; however, their co-occurrence with monogenic disorders such as Duchenne muscular dystrophy (DMD) is rare and presents unique diagnostic and management challenges.</p><p><strong>Case summary: </strong>We report two rare cases of DMD coexisting with chromosomal abnormalities, both followed at Siriraj Hospital. The first case involved a 6-year-old boy with DS who presented with incidentally detected elevated serum transaminase levels, calf pseudohypertrophy, and gait difficulty; gene panel testing identified a hemizygous c.3917dup (p.Asp1307Argfs*4) variant in <i>DMD</i>. The second case involved a 6-year-old girl with proximal muscle weakness and calf pseudohypertrophy; genetic studies revealed a heterozygous delins variant in the <i>DMD</i> (p.Ala3041Serfs*69), skewed X-chromosome inactivation, and mosaic TS [45,X(29%)/46,XX].</p><p><strong>Conclusion: </strong>The coexisting of DMD with DS or TS produces overlapping phenotypes that can complicate diagnosis; careful genetic evaluation and multidisciplinary management are therefore essential.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"116726"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217180/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140139","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":"Prolonged survival in Menkes disease with a novel <i>ATP7A</i> variant: A case report.","authors":"Yusuf Hadi, Nader Khawaja, Hadhami Ben Turkia, Minoosh Nasef, Sarra Baili","doi":"10.5409/wjcp.v15.i2.116956","DOIUrl":"10.5409/wjcp.v15.i2.116956","url":null,"abstract":"<p><strong>Background: </strong>Menkes disease (MD) is an uncommon, X-linked recessive neurodegenerative disorder caused by mutations in the copper-transporting <i>ATP7A</i> gene, leading to defective copper metabolism. Progressive neurological dysfunction, connective tissue abnormalities, characteristic skeletal and hair findings are defining features of the disease. The prognosis of the classical variant is poor since the majority of patients expire by the age of 3 years. This report presents the first documented case of MD in the Kingdom of Bahrain with a novel <i>ATP7A</i> variant.</p><p><strong>Case summary: </strong>We report a 45-day old male infant presenting with focal seizures and hypotonia. Fair, redundant skin and abnormal hair pigmentation was noted. Neuroimaging revealed classical MD findings like subdural hematoma and arterial tortuosity. In addition, cortical laminar necrosis and craniosynostosis were observed. Diagnostic work-up revealed low serum copper and ceruloplasmin levels with high dopamine levels. Eventually, a novel splice-site mutation in the <i>ATP7A</i> gene was identified using Sanger gene sequencing. A trial of copper-histidine therapy started at the age of 4 months was largely unsuccessful in controlling the disease, with minimal dermatological benefits. Later, the patient developed a large bladder diverticulum at the age of 4 years followed by multiple vascular aneurysms and pseudoaneurysms at 6 years. The patient passed away by the age of 6 years and 9 months most likely due to an aneurysmal rupture.</p><p><strong>Conclusion: </strong>This case illustrates an intermediate phenotype which could be influenced by the new <i>ATP7A</i> variant and demonstrates the phenotypic continuum spectrum in Menkes disease.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"116956"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217188/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140166","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":"Dilemma between knife and needle for acute abdominal pain in familial Mediterranean fever: Two case reports and literature review.","authors":"Ahmed M Sira, Samar A Shoeir, Mostafa M Sira","doi":"10.5409/wjcp.v15.i2.117377","DOIUrl":"10.5409/wjcp.v15.i2.117377","url":null,"abstract":"<p><strong>Background: </strong>Acute abdominal pain in children often raises concern for surgical emergencies such as appendicitis. However, autoinflammatory disorders, including familial Mediterranean fever (FMF), may mimic acute abdomen, leading to diagnostic confusion and potentially unnecessary surgeries.</p><p><strong>Case summary: </strong>We present two contrasting pediatric cases, both of whom initially presented with acute right lower quadrant abdominal pain and tenderness. The first was a 5.5-year-old girl with fever who underwent appendectomy despite no sonographic evidence of appendicitis, yet her clinical score (Alvarado score) was highly suggestive of appendicitis. The second was a 5.5-year-old boy who was afebrile but had abdominal sonographic findings of a slightly inflamed appendix. He improved with conservative management and intravenous antibiotics. Upon second presentation, both were ultimately diagnosed with FMF.</p><p><strong>Conclusion: </strong>FMF can mimic appendicitis in children; careful history, clinical suspicion, and judicious imaging help prevent unnecessary surgery during acute attacks.</p>","PeriodicalId":75338,"journal":{"name":"World journal of clinical pediatrics","volume":"15 2","pages":"117377"},"PeriodicalIF":0.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13217204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148140157","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}