Case Reports in Pediatrics最新文献

Infantile fibrous hamartoma (FHI) is a benign soft tissue tumor that primarily occurs in infants. We present the case of a one-year-old male with a paraumbilical subcutaneous mass. Clinical differentials included lipoma versus paraumbilical hernia. Ultrasound revealed a hypoechoic, elongated, poorly defined nodule in the right upper anterior abdominal wall, while immunohistochemistry showed positivity for BCL2, smooth muscle actin (SMA), and cytoplasmic β-catenin. Surgical excision and pathological examination revealed an ill-defined lesion composed of abundant mature adipose tissue interspersed with densely hyalinized fibrous tissue. Paraumbilical FHI can clinically mimic a lipoma or a small hernia. Correlation with targeted ultrasound assists in excluding hernia and guiding surgical management. Surgical removal is generally curative, with a low recurrence rate. This case contributes to the literature on FHI and underscores the importance of considering this entity in the differential diagnosis of subcutaneous masses in infants.

Reactive infectious mucocutaneous eruption (RIME) is a recently identified nosological entity that distinguishes certain mucocutaneous reactions caused by bacterial or viral infections from Stevens-Johnson syndrome (SJS). We present the case of a 14-year-old boy who developed mucositis with minimal skin involvement associated with positivity for rhinovirus and HHV-7, which is consistent with a diagnosis of RIME.

A 19-month-old female patient presented due to rapid weight gain starting at age 5 months. Due to continued abnormal weight gain after 1 year of age, an MRI of the brain was performed, revealing a 5.5 × 2.6 × 2.3 cm mass centered within the medulla oblongata with extension to the C3 vertebral body. Biopsy confirmed a diagnosis of ganglioglioma. A trial of topiramate was attempted, but there was no improvement in weight gain after 2 months. The patient started on 0.3 mg liraglutide daily, and the dose was titrated up to 3 mg daily over 3 months. The patient did not experience abdominal pain, nausea, vomiting, or diarrhea. Weight continued to increase at a drastic rate, and increased appetite persisted. Liraglutide was discontinued. Liraglutide may be safe for use in children as young as age 3 years. However, its effect on weight loss in cases of hypothalamic obesity may be limited. The medulla oblongata contains GLP-1 receptors and is involved in the suppression of food intake. In the presented case, lack of response to treatment was likely due to medullary damage from the tumor. Further research about the etiology of neurogenic causes of obesity is needed so targeted therapies may be developed.

Klinefelter syndrome (KS) is a common sex chromosome aneuploidy characterized by tall stature, hypogonadism, and learning disabilities. However, the severity of clinical presentation can vary significantly among individuals. We report a 13-year-old male patient adopted from Colombia who was diagnosed with KS at age 5.5 due to learning and behavioral difficulties. Despite the typical KS features, his clinical presentation was unusually severe, including significant developmental delay, behavioral issues, and physical abnormalities. Due to the uncommon severe presentation of KS in our patient, exome sequencing (ES) was performed, revealing a de novo heterozygous frameshift likely pathogenic variant in CACNA1C (c.2662del p.[Arg888Glyfs^∗18]). CACNA1C pathogenic variants are associated with several phenotypes, including neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures. This case emphasizes the importance of considering additional genetic investigations in KS patients with atypically severe symptoms. Such an approach can identify secondary genetic events that contribute to the phenotype, guiding a more comprehensive clinical management and allowing a more precise genetic counseling.

Congenital disorders of glycosylation (CDG) constitute a group of rare genetic metabolic diseases caused by defects in the synthesis and modification of oligosaccharides. CDG-Ie is a rare subtype caused by mutations in the DPM1 gene. We describe a female patient who presented with ocular abnormalities, motor retardation, hypotonia, hepatic dysfunction, elevated creatine kinase, abnormal electroencephalogram (EEG), and abnormal cranial magnetic resonance imaging (MRI) findings, which have been reported in previous cases. However, we note that this case had previously undescribed findings of the CDG-Ie phenotype, including hearing abnormalities and decreased parathyroid hormone levels. She carries compound heterozygous variants in the DPM1 gene: a paternal [c.1A>G (p.M1V)] start codon mutation and a maternal [c.371A>G (p.H124R), (NM_003859)] missense variant. We present the 12th case known worldwide to date.

Surgery for tracheoesophageal fistula (TEF) often necessitates the insertion of a Fogarty catheter (FC) to assist the surgeon in identifying the fistula. However, when the TEF is located close to the glottis, bronchoscopic identification of the TEF and FC insertion can be particularly challenging. A 2-month-old female infant exhibited frequent apneic episodes during feeding from postnatal day 5. A subsequent contrast swallow study and bronchoscopy led to the diagnosis of H-type esophageal atresia. Surgical ligation of the TEF was performed on Day 64 of life. Under general anesthesia induction with endotracheal intubation, bronchoscopic visualization of the TEF was attempted before commencing surgery. However, the subglottic location of the TEF made its identification difficult. The TEF was subsequently successfully identified using a supraglottic airway device in combination with positive pressure ventilation. Thereafter, an FC was inserted through the supraglottic device, which was later replaced by tracheal intubation. No adverse events were observed during the procedure. The patient was extubated on postoperative day (POD) 6 and was discharged on POD 39. The method described in this report was effective for efficient insertion of the FC into the subglottic TEF and might contribute to safer and more reliable surgical performance.

Furosemide is a commonly used diuretic, though there is scant literature describing its association with leukopenia. We present a case of neutropenia observed in a preterm infant with a congenital heart anomaly, who received both oral and intravenous furosemide over the course of two hospitalizations. Using the Naranjo adverse drug reaction probability scale, we posit that furosemide was the probable cause of this observed hematologic trend; other etiologies of neutropenia, such as infection, allergy, or physiologic nadir, are unlikely to explain the neutropenia observed in our patient.

[This corrects the article DOI: 10.1155/2021/1812545.].

Introduction: Ménétrier's disease (MD) is a rare protein-losing gastropathy characterized by hypertrophy of the gastric mucosa, particularly in the fundus and body, leading to hypoalbuminemia and peripheral edema. The etiology remains unclear, but in children, MD is frequently associated with Cytomegalovirus (CMV) infection. Pediatric cases usually have an acute, self-limiting course and may respond to supportive care.

Case presentation: We present a case of a 3-year-old previously healthy male who developed vomiting, fatigue, and progressive edema, including facial, limb, and testicular swelling. Laboratory evaluation revealed significant hypoalbuminemia (2.3 g/dL), hypoproteinemia, hypogammaglobulinemia, elevated triglycerides, and lymphocytosis. Abdominal ultrasound showed free fluid and dilated bowel loops. Esophagogastroduodenoscopy revealed thickened gastric folds, and biopsy confirmed MD with CMV inclusion bodies and positive CMV immunostaining, despite negative CMV PCR and serology. The patient received supportive treatment including albumin infusions, diuretics, high-protein diet, and IV ganciclovir, with clinical improvement.

Discussion: This case reinforces the known association between CMV and MD in children and highlights the variability of CMV detection via PCR or serology. Although pediatric MD is often self-limiting, antiviral therapy may be indicated in severe cases or when supportive care is insufficient. The presence of hypogammaglobulinemia in this case also raises questions about potential underlying immunodeficiency. Clinicians should maintain a high index of suspicion for CMV-associated MD in children with acute-onset edema and hypoalbuminemia, even when routine viral testing is negative.

A 10-year-old boy presented with painless rectal bleeding. No fever or weight loss was reported. He had no history of constipation. Ileocolonoscopy revealed a single 2 cm pedunculated polyp in the distal rectum, which was removed endoscopically. Histological examination demonstrated polypoid tissue with focal ulceration characterized by an inflamed lamina propria containing dilated, branched, and hyperplastic crypts. Higher-power microscopy revealed mature bony trabeculae within the lamina propria. No dysplasia was observed. Osseous metaplasia is generally regarded as clinically and prognostically insignificant and is typically an incidentalhistological finding. We report an extremely rare case of heterotopic bone formation in a juvenile rectal polyp and review recent literature on this phenomenon.