Case Reports in Pediatrics最新文献

We describe a three-year-old girl with an unusual c-terminal binding protein 1 (CTBP1) gene variant. She presented with features of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome (HADDTS), following numerous chest infections, poor weight gain and delayed motor development during the early years. After many years of genetic testing where no diagnosis was found, whole genome sequencing (WGS) identified a missense variant in the CTBP1 gene (NM_001012614.1): c.991C > T p.(Arg331Trp). We present some of the brain MRI (cerebellar atrophy) and muscle biopsy features (central nuclei/cores) characteristic of this condition. The underlying mechanisms have not yet been elucidated. Although the clinical features make this condition recognisable, we are aware that in the small community of patients with this condition, the time to diagnosis may be exceptionally long. WGS has allowed us to accelerate this process. We are hopeful that earlier identification will bring better care for the affected children and allow the genetic implications to be discussed with their families.

Food allergies are an increasing global health concern, affecting up to 6%-8% of children and 3%-4% of adults. While common allergens such as milk, eggs, and peanuts are well-documented, rare food allergies, such as those to potatoes, remain underrecognized. Potatoes, a staple food worldwide, can trigger allergic reactions in susceptible individuals due to proteins like patatin (Sol t 1) and protease inhibitors. This case report describes a two-year-old child presenting with recurrent gastrointestinal and respiratory symptoms, ultimately diagnosed with a potato allergy. The child exhibited intermittent vomiting, diarrhea, and wheezing, with episodes temporally linked to potato consumption. Initial clinical evaluations, including hydration and dietary modifications for lactose intolerance or viral gastroenteritis, provided temporary relief but failed to address the underlying cause. A worsening pattern of symptoms, including perioral redness and worsening wheezing, prompted referral to a pediatric allergist. Diagnostic workup revealed elevated eosinophil counts, increased total IgE levels, and significant skin prick test (SPT) reactivity to potato extract. Serum-specific IgE testing confirmed sensitization to Sol t 1. Management included a strict potato-free diet, with additional precautionary exclusion of cross-reactive foods within the Solanaceae family. This intervention led to complete resolution of symptoms, improved weight gain, and enhanced quality of life. Long-term follow-up demonstrated a decline in specific IgE levels, although oral food challenges were deferred due to initial symptom severity. This case underscores the importance of considering rare food allergies in the differential diagnosis of recurrent, nonspecific gastrointestinal and respiratory symptoms in children. Early recognition, aided by targeted allergy testing, can prevent diagnostic delays and unnecessary investigations. Effective management through dietary modifications not only resolves symptoms but also empowers families with the tools to ensure long-term safety and well-being. This report contributes to the growing awareness of potato allergy and its atypical presentations.

Background: Delayed diagnosis of developmental dysplasia of the hip (DDH)-defined as detection after 8 weeks of age using physical examination, ultrasound, or X-ray-occurs in approximately 0.14%-0.26% of infants. This case report highlights the challenges of delayed DDH diagnosis and the role of physical therapy in rehabilitation. Case Report: The patient, a firstborn Asian female, was born vaginally at 40 weeks gestation. Her early medical history included left muscular torticollis, asymmetric crying faces syndrome, and laryngomalacia. Parents observed asymmetric gluteal folds, but early physical examinations before 3 months showed negative Barlow and Ortolani tests, normal hip range of motion, and no motor impairments. Thus, ultrasound imaging was not deemed necessary in early infancy due to negative physical exam findings, the absence of classic presentations and signs, and a lack of major risk factors that would typically warrant further imaging evaluation. At 11 months, signs of reduced weight bearing and leg length discrepancy led to radiographic evaluation, revealing left DDH with subluxation. Treatment included closed reduction, 14 weeks in a Spica cast, 14 months of abduction bracing, and physical therapy. Following casting, the patient experienced hip stiffness, limited mobility, and muscle weakness. Physical therapy focused on restoring movement while ensuring joint stability. With weekly sessions, the patient showed significant progress, achieving independent walking at 19 months. Follow-up radiographs demonstrated gradual acetabular index improvement, approaching normal development by age 6 years and 9 months. Conclusion: This case highlights the challenges of early DDH detection, the consequences of delayed diagnosis, and the vital role of physical therapy in postoperative recovery and functional development of children with DDH.

Multisystem inflammatory syndrome in children (MIS-C) is an immune activation syndrome associated with prior SARS-CoV-2 infection. Clinical manifestations of MIS-C develop 2-6 weeks after SARS-CoV-2 infection with possible involvement of the heart, lungs, kidneys, skin, central nervous system, and digestive tract. Five children with MIS-C (6.6 ± 1.3 years, M:F = 3:2) were admitted to our hospital from January 2021 to March 2022. They all presented with gastrointestinal manifestations, with SARS-CoV-2 molecular swab negativity and positive serology. One child was reported to have a known previous asymptomatic SARS-CoV-2 infection (more than 4 weeks prior to admission). Another one was reported to have received COVID-19 vaccine (second dose four weeks prior to admission). Three/5 were obese children (BMI greater than 95th percentile). All patients experienced fever, abdominal pain, and lack of appetite. Four/5 had vomiting, 3/5 presented diarrhea, 2/5 had constipation, and two male patients had scrotal edema. Three/5 presented with severe gastrointestinal involvement, mimicking appendicopathy; one of them underwent exploratory laparoscopy without histological features of appendicitis. None of them had increased levels of transaminases but one child showed pancreatitis. The median peak value of: IL-6 was 186.5 pg/mL (range: 15.1-692.5; normal values: 0.5-6.4); CRP was 191.4 mg/L (range: 131-386.7; normal values: 0-2); procalcitonin was 19.8 ng/mL (range: 4.27-100; normal value: < 0.5). We treated all patients with intravenous immunoglobulins and steroids. One patient needed oxygen therapy and parenteral nutrition. Nobody died. According to published data, patients with MIS-C have a high rate of abdominal symptoms. Fever and gastrointestinal symptoms were reported in all cases, some of them mimicking acute appendicitis. In the literature, appendectomy was performed in the majority of patients admitted as suspected appendicitis. Moreover, histopathology demonstrated only serosal inflammation, without the typical involvement of acute appendicitis. Following the diagnosis of MIS-C, specific therapy was started, leading to clinical improvement. In conclusion, during the COVID-19 pandemic, MIS-C should always be taken into account in children with persistent fever and severe gastrointestinal symptoms to avoid unnecessary surgical exploration.

We describe the clinical presentation and evaluation of an 11-year-old girl with no reported past medical history, seen by her primary care physician for intermittent knee pain. Outpatient X-rays revealed findings concerning for rickets, prompting further evaluation with blood work. The patient was urgently referred to the emergency department due to abnormal laboratory results and was subsequently found to be in end-stage kidney disease with severe anemia, metabolic acidosis, and significant electrolyte abnormalities. Despite these abnormalities, she was hemodynamically stable with appropriate mentation, and her physical exam was only pertinent for left knee pain. Nephrology was consulted, and she was admitted to the pediatric intensive care unit (PICU) for electrolyte repletion and emergent hemodialysis. This case demonstrates an atypically benign presentation of end-stage kidney disease secondary to bilateral kidney dysplasia. It emphasizes the challenges of recognizing children with previously undetected congenital kidney disease and underscores the need for early detection in high-risk populations, including those affected by social determinants of health.

Ectopia cordis is an exceptionally uncommon congenital condition where the heart develops outside its normal position due to incomplete closure of the ventral chest wall during embryogenesis. The anomaly may occur in isolation or with other structural defects, often resulting in a poor prognosis despite advancements in medical and surgical care. This report discusses a preterm neonate delivered at 33 weeks of gestation following an uneventful pregnancy in a dizygotic twin gestation. The neonate, diagnosed with thoracic ectopia cordis, displayed respiratory distress at birth but showed no significant cardiac or extracardiac abnormalities, a rare presentation. Echocardiography identified minor findings, including a small secundum atrial septal defect and trivial valve regurgitation, with otherwise normal cardiac structure and function. The initial management involved covering the exposed heart with sterile dressings, administration of antibiotics, and supportive care. Surgical correction to approximate the chest wall was successfully performed, but the neonate succumbed 2 days postoperatively. This case stands out due to the absence of complex anomalies typically associated with ectopia cordis and highlights the diagnostic and therapeutic challenges encountered in such rare conditions. Cases such as this contribute to a deeper understanding of ectopia cordis and reinforce the need for improved strategies to enhance survival outcomes in similar scenarios.

Blastomycosis is a rare fungal infection caused by the inhalation of Blastomyces dermatitidis spores. Infection with this fungus can impact nearly every organ system, though pulmonary disease is the most common. Presentations of pulmonary blastomycosis are highly variable, ranging from clinically asymptomatic to severe respiratory failure requiring intensive care. This case series describes the clinical presentation, diagnostic challenges, management, and outcomes of two siblings with severe pulmonary blastomycosis that progressed to pediatric acute respiratory distress syndrome requiring mechanical ventilation and venovenous extracorporeal membrane oxygenation (VV-ECMO). Despite being relatively uncommon, blastomycosis should be considered in patients with respiratory symptoms not responding to empiric antibacterial therapy, particularly in endemic regions. Early diagnosis and prompt initiation of appropriate antifungal therapy are crucial for favorable outcomes. Additionally, early initiation of ECMO for severe pulmonary blastomycosis may be beneficial in temporizing to allow time for sufficient response to antifungal therapy.

Proteus syndrome (PS) is an exceptionally rare disorder characterized by asymmetric and disproportionate overgrowth of connective tissues. We report the case of an 8-year-old female presenting with irregular cranial protrusion, bilateral supraorbital ridge enlargement, overgrowth of the right hand and left foot, and a pelvic MRI revealing an ovarian tumor. Initially, the patient was suspected of having Maffucci syndrome (MS) upon admission. Genetic analysis of a lesion sample from the fifth toe of the left foot identified a heterozygous point mutation, 49G > A (p.Glu17Lys), in the AKT1 gene. The patient met the clinical-molecular diagnostic criteria established by Leslie G. Biesecker, scoring 15 points, thereby confirming the diagnosis of AKT1-related PS. This case report contributes to the enhanced understanding of PS diagnosis associated with AKT1 mutations.

Up to one-third of germ cell tumors are extragonadal neoplasms, with yolk sac tumors (YSTs) being the most common malignant histology. This report describes the successful multimodal management of a primary YST of the stomach in a 2-year-old boy. The child presented with melena, and further evaluation revealed a mass lesion in the cardia of the stomach. A biopsy established a diagnosis of a YST, which correlated with an elevated serum alpha-fetoprotein level. The child received three cycles of chemotherapy consisting of cisplatin, etoposide, and bleomycin (PEB), followed by surgical resection in the form of proximal gastrectomy. After an uneventful recovery from surgery, he received an additional three cycles of PEB and has remained disease-free for 7 years. This case highlights the potential for the occurrence of a relatively rare childhood tumor at an unusual site, which can pose diagnostic challenges. However, careful evaluation and meticulous management can lead to favorable outcomes.

Diabetic ketoacidosis (DKA) is a common initial presentation of type 1 diabetes mellitus (T1DM) in children occurring in up to 40% of cases. DKA can also be associated with severe complications, including nephrolithiasis. We present the case of a 12 years and 8-month-old boy who developed acute kidney injury (AKI) secondary to bilateral urinary lithiasis during the onset of T1DM with DKA. After conventional treatment for DKA, laboratory tests showed increased creatinine and azotemia. 24 hours later, he developed lumbar pain and anuria. Plain radiography, ultrasonography, and computed tomography (CT) revealed bilateral renal calculi and pelvic dilation. An urgent bilateral ascending pyelography with stent placement was performed. Right ureteral stenting was successful, but left stenting failed due to an intramural ureteral anatomical variant; thus, a nephrostomy was performed. Diuresis resumed immediately, and renal function normalized over the following days without permanent impairment. To our knowledge, this is the first reported case of bilateral lithiasis with ureteral stenosis in a pediatric patient with DKA. In patients with severe DKA, we recommend routine monitoring of kidney function with a low threshold for CT imaging whenever there is an unexpected rise in creatinine, oliguria/anuria, or lumbar pain. Early multidisciplinary intervention can promptly relieve postrenal obstruction, prevent permanent renal damage, and improve outcomes.