DICER1‐related tumor predisposition (DRTP) results from loss‐of‐function germline variants that predispose patients to numerous benign and malignant tumors. Cystic nephromas are among the most common neoplasms in patients with DRTP; however, there are no reports of rhabdomyosarcoma from adrenal tissue in children with DRTP. We present a case of a 30‐month‐old child with simultaneous cystic nephroma and rhabdomyosarcoma from ectopic adrenal tissue. He initially presented with chronic abdominal pain and poor weight gain. CT imaging demonstrated a large mass extending from the left kidney as well as an adjacent smaller mass in the retroperitoneum. Routine laboratory tests and tumor markers were unremarkable. He underwent an open left radical nephroureterectomy with excision of the midline retroperitoneal mass and lymph node dissection of the retrocaval and paraaortic basins. Pathologic examination revealed the larger mass to be a cystic nephroma, while the smaller mass was found to be embryonal rhabdomyosarcoma arising from ectopic adrenal tissue. Genetic testing of the rhabdomyosarcoma revealed a pathogenic c.4102dup (p.R1368fs) germline frameshift variant and a second c.5425G > A (p.G1809R) somatic missense variant in DICER1, as well as a somatic variant in BCOR. With this report, we advocate for further investigation of DICER1‐associated rhabdomyosarcoma to improve management of this rare presentation.

Assessing disease pathology from Cochlosoma anatis in turkey poults

Low postnatal serum insulin-like growth factor-1 (IGF-1) levels and slow postnatal weight gain are associated with severe retinopathy of prematurity (ROP) in many Western studies. However, similar studies in the Indian cohort are limited. The objective of this study is to determine the role of IGF-1 and postnatal growth failure (PNGF) in predicting ROP in an Indian cohort. Prospective observational cohort study. This was a prospective observational study. Babies screened for ROP were categorized based on the highest ROP stage in either eye. Weekly birth weight was estimated and growth failure was diagnosed based on Z score. Blood samples for IGF-1 estimation were collected between 30 and 33 weeks. The median IGF-1 levels were lower in the babies with any stage ROP (18.82 ng/ml) than in no ROP (28.81 ng/ml) ( P = 0.002). On logistic regression analysis, PNGF was independently associated with ROP development with an odds ratio of 2.07 (CI 1.04-4.11). The area under the curve of receiver operating characteristic for both IGF-1 levels and postnatal weight gain was > 0.5, implying good diagnostic accuracy in predicting ROP. Poor weight gain rate, PNGF, and low IGF-1 are important predictors for ROP and help to identify the neonates with poor postnatal development. Such babies should therefore be followed meticulously during ROP screening.

ABSTRACT Feeding problems in children may significantly impact growth and development and are not limited to those with high-risk factors like prematurity or neurological impairments. These difficulties also occur in typically developing children, highlighting the need for early identification and intervention. This single centre study in Tamil Nadu, India (a semi-urban locality) explored mothers’ perspective on feeding and swallowing challenges in children aged 0–3 years. Forty mothers, whose children experienced feeding difficulties during routine pediatric visits, were referred by pediatricians to a speech-language pathologist (SLP) for further assessment. These mothers participated in the study by completing the Infant Child Feeding Questionnaire (ICFQ) and taking part in brief interviews. Descriptive statistics summarized questionnaire data, and thematic analysis was applied to identify common themes in maternal experiences across age groups. Among infants aged 0–6 months, the most frequently reported problems were coughing during feeding (68%), refusal to feed (63%), and choking/gagging (58%). In children aged 6–12 months, poor weight gain and coughing during feeding were reported by 69% of mothers, while 62% had difficulty transitioning to pureed foods and 62% reported food refusal. Among toddlers aged 1–3 years, refusal to eat and poor weight gain were reported by 75% of mothers, and difficulty chewing or selective eating was reported by 62–63%. Thematic analysis revealed that parents often experience uncertainty, stress, and anxiety, leading them to use force-feeding and other alternative feeding methods as coping strategies. These findings underscore the prevalence of feeding difficulties in typically developing children in India and the significant emotional impact on mothers. The study emphasizes the importance of early assessment, caregiver support, and intervention to address feeding challenges and promote healthier family feeding dynamics.

Ancylostoma caninum, the canine hookworm, is the most common and clinically important gastrointestinal nematode parasite infecting dogs in the US. Common clinical signs associated with acute infections include anemia, melena, hematochezia, dehydration, and poor weight gain or weight loss. In the past few years, multiple anthelmintic drug resistance to fenbendazole, moxidectin, and pyrantel pamoate has been documented in A caninum in the US, and cases of drug-resistant canine hookworms are increasingly being reported in the US and Canada. Clinical and genetic evidence strongly suggests that multiple anthelmintic drug-resistant A caninum likely originated on Greyhound breeding farms and kennels. However, the problem is no longer restricted to Greyhounds; several large national studies have shown that drug-resistant A caninum was present in dogs of all sizes, ages, and breeds and at varying but always high prevalence in every region of the continental US. The high prevalence and wide distribution of drug-resistant hookworms present a matter of urgent concern for veterinarians in North America and elsewhere. In response to this concern, the American Association of Veterinary Parasitologists established a Hookworm Task Force in 2021, and this paper is a result of the work of that task force. Here we provide guidance on best practices for diagnosis, treatment, and management of drug-resistant hookworm cases and summarize relevant studies to help veterinarians understand what is known about the biology, prevalence, and epidemiology of these parasites.

This post-marketing surveillance study investigated safety and effectiveness of lisdexamfetamine dimesylate (LDX) in paediatric attention-deficit/hyperactivity disorder (ADHD) in routine clinical practice in Japan. Patients (aged 6 to<18years) were enrolled in this prospective, observational study from January 2020 to December 2023 and received an LDX dose determined by the investigator. Safety (including dependence and abuse) and effectiveness were evaluated for 2years after treatment initiation. Dependence and abuse were also assessed for 3 additional years in those still receiving LDX. The data cut-off date for this interim analysis was 21 January 2024. Overall, 1819 patients were enrolled across 188 sites and case report forms were collected for 1012 patients. Of these, 1006 and 916 patients were included in the safety and effectiveness analyses, respectively. The adverse drug reactions (ADRs) of decreased appetite (19.3%), insomnia (3.7%), nausea (3.4%), weight decrease (2.8%), headache (2.6%), aggression (2.4%), initial insomnia (1.8%), irritability (1.8%), tic (1.6%), and agitation (1.3%), were reported in≥1% of patients. Eight serious ADRs occurred in five patients: decreased appetite (n=3), and anger, hyperthyroidism, palpitations, poor weight gain, and suicide attempt (n=1 each). For ADRs defined as important identified risks or important potential risks of LDX, one non-serious syncope event was observed. No dependence- or abuse-related events of LDX were reported. An increasing proportion of patients had improvements in the Clinical Global Impression-Improvement scale during the first year of observation, and improvements were maintained through the second year. Improvements from baseline in ADHD-Rating Scale-IV total and subscale scores increased over the 2-year observation period; significant improvements in the total score were observed at all time points (p<0.0001). No ADRs requiring new safety measures were observed. The effectiveness of LDX was confirmed in real-world practice. This study is ongoing, and the final results will be reported upon completion. University Hospital Medical Information Network (UMIN) Clinical Trials Registry (identifier: UMIN000039018).

Introduction: Insufficient breast milk secretion affects atleast 15% of women and has been a leading factor responsible for disobedience of exclusive breastfeeding practice world wide. Breast discomfort, sore nipples, mastitis, inverted nipples, presence of breast implants are other factors which troubles getting the infant to suck. Therefore, poor weight gain of the babies, hypernatremia and dehydration owing to insufficient milk intake are all common issues that women encounter while breastfeeding their babies. Low breast milk supply can be caused by a variety of factors, most of which are concerned with breast feeding management and are easily correctable. These issues necessitate a thorough understanding of nursing techniques. Therefore, enhancing mother's own milk production is most fruitful among all remedies by correcting the underlying cause with use of drugs capable of amplifying the breast milk secretion. This can be achieved with use of galactogogues. Material and methods: This study was conducted to find out the prevalence of insufficient breast milk secretion in lactating women having baby less than 1 month of age. Observation and Result: In our study, low breast milk secretion is more prevalent in women 21-27 yrs of age of upper middle socioeconomic class who delivered the baby by LSCS and are non-working. The prevalence is almost similar in both primi and multiparous women. Conclusion: Despite of the availability of better health facilities, insufficient breast milk secretion is quite high and needs to be addressed as early as possible by proper breast feeding counselling and following WHO recommendations of exclusive breastfeeding practice in order to meet the WHO and UNICEF target of 70% prevalence of EBF by 2030.

Primary adrenal insufficiency, or Addison disease, can be caused by an autoimmune process and presents with poor growth, poor weight gain, nausea, vomiting, fatigue, and skin hyperpigmentation. During times of stress or illness, patients with untreated or insufficiently treated adrenal insufficiency are at risk for adrenal crisis progressing to hypotensive shock, lethargy, confusion, coma, and death. While primary adrenal insufficiency is reported as a rare cause of encephalopathy, and more rarely encephalitis in adults, it is not known to be associated with encephalitis in children. Here, we present a unique case of a female 17-year-old who presented with significant encephalopathy and magnetic resonance imaging findings consistent with acute leukoencephalopathy with restricted diffusion and who was ultimately found to be in adrenal crisis secondary to influenza-related encephalitis. Due to rapidly declining neurologic function and concern for infectious encephalitis, the new diagnosis of adrenal insufficiency was not initially identified. Less common electrolyte derangements, including hypercalcemia and hyperphosphatemia, also contributed to difficulties in diagnosis. After initiation of steroid replacement, the patient progressed to make remarkable functional progress. This case underscores the importance of navigating diagnostic uncertainty in complex pediatric care to improve patient outcomes. In addition, this case contributes to the growing literature of primary adrenal insufficiency in the pediatric patient and demonstrates the important role of glucocorticoids on neurologic function and calcium/phosphate metabolism.

BACKGROUND Berry syndrome is a rare congenital cardiovascular disorder characterized by typical malformations (eg, right pulmonary artery [RPA] origin from the aorta, aortic arch interruption, and atrial septal defect), most of which require surgical correction in infancy or early childhood. CASE REPORT A 1-week-oldinfant presented with postnatal dyspnea, irregular respiration, and poor weight gain. A diagnosis of Berry syndrome was confirmed via transthoracic echocardiography and cardiac great-vessel computed tomography angiography. The infant first underwent successful initial surgery to correct the core heart malformations. Follow-up transthoracic echocardiography at 5 months of age revealed progressive RPA stenosis requiring staged interventional treatment. During preparation for stent deployment, the infant developed acute decompensation: oxygen saturation dropped sharply, and hemorrhagic tracheal secretions were observed, consistent with acute massive RPA hemorrhage. A multidisciplinary team (cardiac surgeons, anesthesiologists, and respiratory endoscopists) performed emergency intervention. Under bronchoscopic guidance, a 5-Fr bronchial blocker was inserted into the right main bronchus to occlude the bleeding site; the endotracheal tube was replaced; and bloody thrombi were removed via lavage, suction, and basket extraction. Post-procedure bronchoscopy confirmed patent left bronchi and no active RPA bleeding. The infant was extubated on post-intervention day 5 with stable hemodynamics and was discharged 2 weeks later with normal respiratory function. CONCLUSIONS This case represents the first successful application of bronchoscopy-guided bronchial blocker at our institution for control of acute massive RPA hemorrhage. For resuscitation of pediatric massive pulmonary artery hemorrhage, in addition to routine rescue measures, bronchoscopy-guided bronchial blocker placement offers an effective emergency strategy.

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting from pathogenic variants in the CTSK gene, which encodes cathepsin K, a lysosomal cysteine protease expressed in osteoclasts. Deficiency of this enzyme leads to defective bone resorption and generalized osteosclerosis. We report an 8-year-old girl, the firstborn of a third-degree consanguineous marriage, who presented with poor height and weight gain since birth and delayed developmental milestones, including independent walking at 2 years of age. Physical examination revealed proportionate short stature with microcephaly and brachycephaly. Craniofacial findings included frontal bossing, beaked nose, low-set posteriorly rotated ears, micrognathia and a high-arched fissured palate with dental crowding and supernumerary teeth. Thickened palmar skin, pectus carinatum, and saddle toe deformity were also seen. Fundoscopic examination demonstrated bilateral papilledema. Radiographic evaluation showed diffuse cranial sclerosis, wormian bones, hypoplastic clavicles, acro-osteolysis, and generalized increased bone density. Endocrine assessment revealed isolated low parathyroid hormone levels, an exceptionally rare association. Molecular genetic testing by clinical exome sequencing (CES) identified a homozygous pathogenic variant in exon 6 of the CTSK gene, establishing the diagnosis of pycnodysostosis. The patient was initiated on recombinant growth hormone therapy and referred for multidisciplinary follow-up, including endocrinology, dentistry, orthopedics, and ophthalmology. This case underscores both classical manifestations and unusual findings such as papilledema and low PTH levels. Early diagnosis through careful clinical evaluation and genetic confirmation enables timely initiation of appropriate interventions. Growth hormone therapy demonstrated consistent improvement in linear growth, emphasizing the potential for better long-term outcomes. A coordinated multidisciplinary approach remains essential to enhance prognosis and overall quality of life in children with this rare skeletal dysplasia.

ObjectiveTo evaluate neurodevelopment at 24 months in infants surgically treated for esophageal atresia (EA), using the ages and stages questionnaire (ASQ), and identify perinatal and early‐life factors associated with developmental delay.MethodsInfants with EA were prospectively enrolled in a structured multidisciplinary follow‐up program. Total ASQ scores ≤185 were considered indicative of significant neurodevelopmental delay, while scores >220 reflected reassuring neurodevelopment. Five skill domains (communication, gross motor skills, fine motor skills, problem solving, and social skills) were also assessed. Clinical, surgical, and growth data were analyzed to identify associated risk factors.ResultsOf the 74 infants included, 13 patients (18%) had an ASQ score ≤185. Lower ASQ scores were significantly associated with prematurity, prolonged hospitalization, multiple surgeries, poor weight gain at 1 and 2 years, and feeding disorders. After adjusting for gestational age and genetic anomalies, prolonged hospitalization remained associated with lower ASQ scores, and higher weight‐for‐age at 1 and 2 years with better ASQ scores. Communication and social skills were the most severely affected, with approximately 80% of infants in the ASQ ≤ 185 group scoring below –2 standard deviations.ConclusionAlthough most children with EA demonstrated normal development at 2 years, a minority experienced significant delays, especially in communication and social skills. Early screening and targeted multidisciplinary follow‐up are essential to support optimal outcomes in this high‐risk population.

This evidence-based guideline from the American Academy of Pediatrics and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition is intended to support health care providers who care for children with poor weight gain. This clinical practice guideline (CPG) panel updates the term “failure to thrive” to “faltering weight” and using z score cutoffs rather than percentiles as diagnostic criteria. A diagnosis of faltering weight includes any of the following: (1) weight-for-length or body mass index (BMI)-for-age less than −1.65 z score (5th percentile); (2) in children younger than 2 years, weight gain velocity less than −2 z score for age (2.3rd percentile); or (3) decline in weight, weight-for-length, or BMI greater than or equal to 1 z score. This definition was formulated by the guideline panel through an iterative process of discussion and voting to reach consensus. The Grading of Recommendations Assessment, Development, and Evaluation (GRADE) approach was used to formulate recommendations and good practice statements, including GRADE Evidence-to-Decision frameworks, which were reviewed by internal and external contributors. The CPG provides 8 Key Action Statements (recommendations) and articulates 4 Good Practice Statements for additional guidance. Diagnostic testing is only recommended for children who have specific conditions that suggest a focal evaluation or persistent faltering weight. In children with persistent faltering weight or who have concerns for conditions that cannot be diagnosed without endoscopy, the CPG suggests endoscopy with biopsy. The CPG recommends the use of increased calories of food/energy; oral nutritional supplementation; and therapy for pediatric feeding disorder. When implemented, the CPG is intended to reduce confusion about diagnostic criteria and improve diagnostic accuracy, decrease overutilization of laboratory testing and imaging in children with faltering weight, and enhance health care utilization.

Faltering weight (previously known as "failure to thrive") is a condition characterized by poor weight gain and has varied underlying etiologies that may require distinct diagnostic evaluations. This technical report describes systematic reviews to identify the benefits and harms of diagnostic tests, including endoscopy, in children younger than 5years who live in high-income countries. Two systematic reviews were conducted to assess the evidence regarding benefits and harms of diagnostic tests (including endoscopy) in these children. The search was conducted in electronic databases PubMed, Embase, Cumulative Index to Nursing and Allied Health Literature (CINAHL), and Cochrane Library up to September 27, 2022. Two review team members screened extracted data from potentially eligible articles independently and in duplicate. The Grading of Recommendations, Assessments, Development, and Evaluation (GRADE) approach was used to assess the certainty (eg, quality) of evidence. Six studies met inclusion criteria for the benefits and harms of a subset of diagnostic tests. The studies reported on the prevalence of underlying conditions; 2 of these studies also discussed test accuracy. Nine studies met inclusion criteria for evidence on the benefits and harms of endoscopy as a diagnostic tool. Seven studies discussed endoscopic diagnosis, 2 studies discussed histological findings, and 1 discussed procedural complications. The certainty in the evidence was very low because of concerns with risk of bias, inconsistency, and indirectness. Diagnostic testing for underlying conditions in children who are suspected of having faltering weight should be performed at the clinician's discretion, on the basis of the child's condition, while considering tests' potential harms and costs. Future research is needed to better characterize the benefits and harms of evaluations in young children who are being assessed for faltering weight.

Hyperemesis gravidarum (HG) is characterized by severe nausea and vomiting during pregnancy, and can markedly impair quality of life as well as cause maternal and fetal complications. Although a stepwise treatment strategy with antiemetics and nutritional support is commonly used, some cases remain refractory. Olanzapine, an atypical antipsychotic, has shown potential benefit in HG, although most reports involve patients with psychiatric comorbidities. We describe a patient with persistent HG in late gestation without psychiatric history, in whom adjunctive olanzapine was temporally associated with improvement in nausea and vomiting symptoms. A 42-year-old woman (Gravida 2, Para 0) conceived through frozen-thawed embryo transfer and was diagnosed with HG at gestational week 8. Despite intravenous fluids and metoclopramide, symptoms persisted, and she was hospitalized at 32 weeks due to poor maternal weight gain and fetal growth restriction. On admission, her nausea was severe (Numerical Rating Scale [NRS]: 10), with a Pregnancy-Unique Quantification of Emesis and Nausea (PUQE-24) score of 15 and persistent vomiting up to 18 episodes/day. Despite no prior psychiatric history, she developed depressive symptoms during pregnancy. Olanzapine was started at 2.5 mg/day and titrated to 10 mg/day by 35 weeks; total parenteral nutrition was initiated concurrently. By 35 weeks, her nausea improved (NRS: 10/10 to 3.5/10; PUQE-24: 15 to 9) and vomiting decreased to 9 episodes/day. A cesarean section was performed at 35 weeks and 2 days owing to acute pulmonary edema. A 2,160-g female infant was delivered with Apgar scores of 2, 4, and 5. The neonate was admitted to the neonatal intensive care unit due to transient respiratory distress (ventilation: 2 days; oxygen: 10 days), with a normal brain MRI prior to discharge and no evidence of hypoxic–ischemic encephalopathy. Maternal gastrointestinal symptoms resolved immediately after delivery. This case highlights the potential role of olanzapine in refractory HG management, even in the absence of pre-existing psychiatric comorbidities. It also underscores the importance of early nutritional intervention and multidisciplinary management, particularly when prolonged symptoms contribute to declining quality of life and depressive affect. Further case reports are required to confirm this therapeutic effect of olanzapine.

Introduction: Diagnosing rare genetic diseases in the pediatric ICU (PICU) often involves a complex and emotional “diagnostic odyssey.” RFC4-related multisystem disorder is an ultra-rare autosomal recessive condition, with only nine reported cases as of 2024. It presents with progressive neurologic dysfunction, including sensorineural deafness, hypotonia, motor incoordination, weakness, and developmental delay. Early palliative care is essential for families facing life-limiting diagnoses. Description: We report a 5-month-old male with global hypotonia, bilateral sensorineural hearing loss (B/L SNHL), poor weight gain, cyanotic episodes, and hypoxia. Diagnosed with B/L SNHL at birth, he also showed failure to thrive (FTT). Four years earlier, a sibling with similar features (B/L SNHL, FTT, developmental delay) died of apparent SIDS at 7 months. Autopsy revealed mild cardiac fibroelastosis. Trio whole exome sequencing (WES) of the sibling and parents had been non-diagnostic. Our patient displayed choreoathetoid movements, hyporeflexia, and poor responsiveness not explained by SNHL alone. EEG showed subtle temporal lobe seizures initially responsive to anti-seizure medications. Brain MRI was normal. CSF revealed elevated protein (105 mg/dL) without infection or other potentially treatable etiology. Given the family history, trio WES was repeated (proband, both parents). Seizures became refractory, requiring multiple agents without improvement. WES revealed compound heterozygous variants of uncertain significance in RFC4 [maternal c.882 + 4_882 + 5del p.? and paternal c.827_835del (p.G276_F278del)]. Retrospective testing confirmed the deceased sibling had the same variants, though RFC4 had not yet been associated with disease at that time. RFC4, involved in DNA replication and repair, is now linked to Morimoto-Ryu-Malicdan neuromuscular syndrome (MRMNS; MIM #621010, PMID:16980295). After diagnosis during a two-week hospitalization, care goals were aligned with the family. The patient was transitioned to comfort care and discharged with hospice support. He expired within two months. Discussion: This case highlights the value of repeated family-based genetic testing. Timely PICU diagnosis using WES supports informed decisions and compassionate care in rare, life-limiting conditions like RFC4 deficiency.

Nontargeted metagenomic surveillance of the poultry enteric virome reveals underrecognized threats to poultry health and productivity in intensive production systems. In South Asia, avian rotavirus A (AvRV-A) and avian orthoreovirus (ARV) are frequently detected in broilers by conventional diagnostics, whereas chicken megrivirus genotype C (ChMeV-C) is often identified through metagenomic surveillance. Often present in both clinical disease and coinfections, these viruses may impair gut function, immune responses, and growth performance, yet their genomic diversity and evolutionary dynamics in poultry remain poorly characterized. Here, we report complete genomes of AvRV-A, ARV, and ChMeV-C strains co-detected via nontargeted metagenomic next-generation sequencing (ntNGS) in a pooled cloacal sample comprising 150 commercial broiler chickens (19 and 33 days old) collected from three commercial farms in Kamrup Rural District, Assam, Northeast India. Despite routine vaccination, all three flocks experienced > 10% mortality, poor weight gain, and postmortem lesions including pale kidneys and hepatomegaly. Phylogenetic analyses revealed segmental clustering in ARV and AvRV-A consistent with reassortment-driven divergence, though not supported by detectable recombination, while ChMeV-C clustered within a distinct C1 sublineage, suggesting intercontinental lineage connectivity and highlighting the need to expand regional genomic baseline data. We also identified nonsynonymous single nucleotide polymorphisms in several key viral proteins, including RNA-dependent RNA polymerases (VP1 of AvRV-A, λB of ARV, and 3D of ChMeV-C), capsid proteins (VP2 and VP7 of AvRV-A, λA and σB of ARV, and VP0 and VP1 of ChMeV-C), and replication-associated nonstructural proteins. These findings expand the genomic baseline for poultry enteric viruses in South Asia, reveal novel polymorphic signatures, and underscore the value of ntNGS-based metagenomic surveillance in virus detection, diversity monitoring, and informing vaccine and biosecurity strategies.

We present the case of an 8-month-old male infant referred for poor weight gain, with a history of intrauterine growth restriction (birth weight: 2,230 g; height: 45 cm).Physical examination revealed dysmorphic features, including a broad forehead, depressed nasal bridge and low-set ears.Karyotype was 46, XY.Given suspicion of endocrine involvement, a dynamic growth hormone (GH) test with glucagon was performed and showed a peak GH level 3.5 ng/mL, consistent with GH deficiency.Trio whole-exome sequencing identified a heterozygous pathogenic variant in the HRAS gene, confirming the diagnosis of Costello syndrome.This case highlights the importance of considering syndromic etiologies and the RAS/MAPK pathway in infants with failure to thrive, as well as integrating endocrine and genetic evaluations to enable timely diagnosis.

Rubinstein-Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise, but no large cohort has examined these symptoms in detail. This study aimed to characterize gastrointestinal and nutritional comorbidities in children with Rubinstein-Taybi syndrome seen at a tertiary pediatric center between 2013 and 2023. Among 85 affected patients, 46 (54%) reported gastrointestinal symptoms, and 31 (66%) were evaluated in the Gastroenterology clinic. Symptoms frequently predated the genetic diagnosis. Constipation was most common, followed by reflux symptoms, dysphagia, vomiting, and feeding intolerance or poor weight gain. Most patients underwent at least one diagnostic evaluation, including upper gastrointestinal imaging, video swallow studies, or esophagogastroduodenoscopy. Nearly half required gastrostomy tube support, typically in later childhood, with subsequent improvements in weight and body mass index z-scores and successful transitions to partial or full oral intake in some cases. Oral-fed patients demonstrated modest growth improvement over shorter follow-up intervals. These findings highlight a substantial gastrointestinal disease burden in Rubinstein-Taybi syndrome and underscore the importance of early recognition and multidisciplinary management.

BackgroundCeliac disease (CD) is a common immune-mediated enteropathy in children and is frequently associated with iron deficiency anemia (IDA), which may be an initial or prominent extraintestinal manifestation and, in some cases, the presenting feature of the disease. While IDA is well recognized in pediatric CD, data regarding its prevalence, clinical correlates, and longitudinal outcomes in children from southern Saudi Arabia remain limited, particularly in tertiary care settings.ObjectivesThe primary objective was to determine the prevalence of IDA at the time of CD diagnosis in children. The secondary objectives were to assess the persistence of IDA at one and two years following initiation of a gluten-free diet and to evaluate demographic, clinical, and treatment-related factors associated with its presence and persistence.MethodsA retrospective cohort study was conducted at the Armed Forces Hospital - Southern Region, including children and adolescents aged 1-18 years with confirmed CD diagnosed between January 2016 and December 2023. Demographic characteristics, clinical presentation, diagnostic modality, iron therapy details, and hematologic outcomes were extracted from medical records. Associations between patient characteristics and IDA were analyzed using univariable and multivariable logistic regression models.ResultsNinety-seven children with CD were included, of whom 59 (60.8%) were females. IDA was present at diagnosis in 25 (25.8%) patients. No statistically significant associations were identified between IDA and age at diagnosis, gender, short stature, poor weight gain, or syndromic status. Most patients did not require iron supplementation; among those treated, oral iron was administered once daily for three months, typically using standard pediatric weight-based dosing (approximately 3-6 mg/kg/day of elemental iron). Resolution of IDA occurred in 68.0% of affected children at one year following gluten-free diet initiation and increased to 88.0% by two years. Multivariable analyses demonstrated no significant predictors for either the presence of IDA at diagnosis or its persistence at one-year follow-up.ConclusionsIDA affected approximately one quarter of children at the time of CD diagnosis in this cohort; however, given the high background prevalence of nutritional iron deficiency in pediatric populations, anemia cannot be attributed exclusively to CD in all cases. The majority of affected children demonstrated hematologic recovery following adherence to a gluten-free diet, with progressive improvement over time, supporting a disease-related contribution in a substantial proportion of patients. No demographic, clinical, or treatment-related factors were independently associated with either the presence or persistence of anemia. These findings underscore the importance of routine anemia screening at diagnosis and continued hematologic monitoring during follow-up in children with CD.

Propionic acidemia is a rare metabolic disorder caused by mutations in either the PCCB or PCCA gene, resulting in a deficiency of the propionyl-CoA carboxylase enzyme and the accumulation of its metabolites. It is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia. This case report describes a 45-day-old infant with failure to thrive and ambiguous genitalia presenting with respiratory distress, lethargy, recurrent vomiting, and poor weight gain. The family history revealed consanguinity (third-degree relatives) and the death of an older sibling at 35 days of age, who also had ambiguous genitalia, low birth weight, and prematurity. Additionally, three other infants in the previous generation had died. Arterial blood gas analysis showed elevated lactate levels with high anion gap metabolic acidosis. Ketonuria and hyperammonemia were also present. Tandem mass spectrometry–gas chromatography–mass spectrometry screening was done, which revealed increased propionyl-CoA metabolites. Whole exome sequencing further confirmed the diagnosis of propionic acidemia with autosomal recessive inheritance.