Case Reports in Pediatrics最新文献

Juxtaglomerular cell tumor (JGCT), or reninoma, is a rare benign renal neoplasm. It is characterized by severe hypertension and hypokalemia due to excessive renin produced from the juxtaglomerular apparatus on the afferent arteriole of the glomerulus. Herein, we report a case of JGCT in a 15-year-old female who presented with severe hypertension. She was found to have elevated levels of renin and aldosterone with hypokalemia and she responded to angiotensin-converting enzyme inhibitors (ACEi). Abdominal MRI demonstrated a 4-cm left renal tumor. A radical nephrectomy was performed, and histology showed a well-circumscribed tumor consisting of sheets of polygonal to ovoid cells consistent with a JGCT. After surgery, the renin and aldosterone levels normalized, and blood pressure was controlled with small dose of ACEi medication. Unfortunately, the patient remained in Stage III chronic kidney failure due to the longstanding damage of uncontrolled hypertension prior to the diagnosis. We hereby review the literature and discuss the differential diagnosis.

Background: Ovotesticular disorder of sexual differentiation (DSD) is one of the rarest congenital conditions affecting gonadal and sexual development, characterized by the coexistence of ovarian and testicular tissue within an individual. This condition often presents with ambiguous genitalia, atypical pubertal development, or unexpected menstrual activity. This case report details a 14-year-old phenotypic male with ambiguous genitalia, cyclic perineal bleeding, and synchronous bilateral dysgerminoma, underscoring the diagnostic complexities and management challenges encountered in resource-constrained settings. Case Presentation: A 14-year-old individual assigned male at birth and raised as a boy presented with progressive abdominal distension, cyclic perineal bleeding, and absent male secondary sexual characteristics. Physical examination revealed ambiguous genitalia, a small phallic structure, a perineal opening with menstrual blood, and no palpable gonads. Hormonal analysis revealed elevated lactate dehydrogenase and gonadotropins, low testosterone levels, and increased estradiol. Imaging revealed an abdominopelvic mass highly suggestive of ovarian malignancy, and vaginal exploration confirmed Müllerian structures. Laparotomy revealed a 16-cm × 18-cm right adnexal mass, and histopathology confirmed dysgerminoma. The patient was lost to follow-up but returned 6 months later with a contralateral (left) adnexal mass, prompting oncologic referral. Conclusion: Ovotesticular DSD with bilateral dysgerminoma is exceedingly rare and poses significant diagnostic and therapeutic challenges. Early diagnosis, multidisciplinary management, and timely oncologic intervention are crucial for optimizing patient outcomes, especially in resource-limited settings. This case underscores the critical need for heightened awareness, improved access to karyotyping, genetic and hormonal assessments, and long-term follow-up for individuals presenting with ambiguous genitalia and atypical pubertal development.

Abdominal compartment syndrome (ACS) in children is a life-threatening complication with high morbidity and mortality. Stressful life events are among the risk factors of functional constipation (FC) in children. We present a 13-year-old male patient with chronic FC due to parents' separation who presented with a history of FC since infancy and inability to defecate during the last month. On examination, the abdomen was distended and tender. His vital signs revealed elevated blood pressure ≥ 95^th percentile according to his age weight and gender. On admission, the patient experienced tonic-clonic seizures refractory to medical therapy. He was intubated and a computed tomography (CT) scan revealed an extensive rectosigmoid bowel dilatation. Despite maximal medical support, his condition worsened. ACS was suspected and confirmed via intravesical measurement of intra-abdominal pressure (IAP). An urgent decompression laparotomy (DL) was performed with resection of the affected bowel. His condition improved postoperatively. This case highlights the extremely rare association between ACS and chronic FC resulting from stressful life events.

A 19-month-old female with Down syndrome presented with recurrent left cheek swelling and left eye involvement, initially diagnosed as fasciitis/myositis and periorbital cellulitis. Despite empiric antibiotics, symptoms persisted. A whole-body CT scan revealed prominent lymph nodes, and a biopsy of the buccal mass showed myeloid sarcoma. Bone marrow aspiration confirmed acute myeloid leukemia. Following chemotherapy, the patient's symptoms resolved. This case underscores that acute leukemia may manifest as facial swelling or periorbital cellulitis, highlighting the importance of considering extramedullary myelosarcoma in cases of persistent, unexplained soft tissue swelling that does not respond to standard treatments.

Background: Langerhans cell histiocytosis is a rare disease, the pathogenesis of which remains a subject of debate, with considerations of either a neoplastic origin or an inflammatory nature. It arises from the uncontrolled proliferation of immature myeloid dendritic cells, leading to their accumulation in various sites. Recent studies indicate that Langerhans cell histiocytosis is a clonal neoplastic disorder driven by mutations in the MAP kinase pathway. When the bones are involved, the condition is often asymptomatic, but it can cause pain or soft tissue swelling, with the skull being the most affected site. Case Presentation: We present the case of a 9-year-old boy who presented with painful left periorbital swelling. He initially underwent empirical medical therapy for suspected periorbital cellulitis. Due to a lack of improvement in symptoms, radiological assessment was subsequently performed, revealing frontoethmoidal-orbital bone resorption and a mass of ambiguous nature with peripheral enhancement in T1-weighted sequences. Following an ENT evaluation, a biopsy was performed using an endoscopic endonasal approach. The histological examination confirmed the presence of Langerhans cell histiocytosis, with unifocal localization in the frontal bone. Consequently, the patient began chemotherapy following the LCH-IV protocol, the international collaborative treatment protocol for children and adolescents with Langerhans cell histiocytosis. Conclusions: Langerhans cell histiocytosis is a rare disease that may present with involvement of the frontal and ocular regions. Although periorbital cellulitis is initially treated with first-line medical therapy, if there is no improvement, radiological assessment and subsequent histological examination become essential for prompt diagnosis and appropriate therapeutic intervention.

Background: Literature describing radiologic imaging of the adolescent labia is lacking and may lead to misdiagnoses and unnecessary medical care. Cases: Two adolescent patients presented with sudden-onset unilateral labia minora enlargement and underwent multiple imaging modalities which identified a discrete mass. One patient was diagnosed with aphthous ulcers after a prolonged emergency department stay, and the other underwent an exam under anesthesia for mass removal and was found to have an elongated labia minora rolled into itself. Conclusion: Labia minora enlargement in adolescents can be significant and may be mistaken for a discrete mass on radiologic imaging given a lack of literature on expected findings. Clinical correlation and understanding of age-appropriate etiologies of noninfectious labial swelling is crucial to avoid unnecessary medical therapies and procedures.

Pearson syndrome (PS) is a rare and fatal multisystem disorder caused by a mitochondrial DNA (mtDNA) deletion. Most patients develop refractory anemia in early infancy, rapidly followed by multiple complications such as failure to thrive, muscle hypotonia, pancreatic insufficiency, and renal tubulopathy. Although the definitive diagnosis is established by mtDNA sequencing, bone marrow (BM) cytology is a cornerstone of diagnosis, typically revealing precursor vacuolization and ring sideroblasts. We report here three cases of patients with PS encountered in our institution and summarize the clinical and hematological features of PS through a systematic review of the literature. The first symptoms mostly appear during the first month of life and rarely after 18 months. Hyporegenerative anemia, a hallmark of the disease, is the most common initial symptom, followed at a distance by neutropenia and thrombocytopenia. Gastrointestinal and metabolic symptoms such as failure to thrive and lactic acidosis are the most frequent non-hematological symptoms, even in the rare cases without hyporegenerative anemia. Vacuolization of BM precursors, observed in the vast majority of PS patient BMAs, is not influenced by the patient's age at sampling. Ring sideroblasts, the other feature of PS BMAs, are less frequent than progenitor vacuolization but increase significantly after 6 months of age. These abnormalities are just as common in patients with or without hematological symptoms, suggesting that BMA should be performed in all suspected PS cases, despite the absence of anemia. PS is a multisystem disorder requiring early diagnosis and a coordinate multidisciplinary management, involving clinicians and clinical biologists.

Cardiac tamponade is a challenging clinical situation in preterm newborns. We report the first case of an iatrogenic cardiac tamponade secondary to direct myocardial disruption with pericardial penetration following unsuccessful attempts to drain a right tension pneumothorax in a 34-week premature female newborn. The pathophysiologic mechanisms involved are discussed.

Fungal infections in the urine are rare in healthy individuals but can occur in patients with diabetes, immunosuppression, urinary catheterization, prolonged hospital stays, and the use of broad-spectrum antibiotics. The most common strain is Candida, with Candida albicans being the most prevalent. Candida auris is a new emerged and severe, contagious species of Candida family especially in critically ill patients. We present a case of a 17-year-old male with neuromyelitis optica spectrum disorder who developed a fungus ball in the bladder. Despite multiple antibiotic therapies, persistent fevers led to the diagnosis of Candida auris and the detection of a fungus ball in the bladder. The patient was successfully treated with caspofungin, cystoscopy for total excision of the fungus ball, and intravesical liposomal amphotericin B. This case underscores the importance of early diagnosis and treatment of fungus balls to prevent complications such as obstructive complications and fungal urosepsis. In conclusion, identifying risk factors, such as immune dysregulation, prolonged PICU stay, mechanical ventilation, urinary catheter, and antibiotic use, is crucial in managing such cases.

Necrotizing enterocolitis (NEC) is a serious condition characterized by severe ischemic inflammation of the bowel with invasion of gas-forming organisms into the bowel wall. Intraventricular hemorrhage (IVH) is another serious condition characterized by bleeding into the ventricles from the friable germinal matrix in premature infants. Both typically occur in the preterm and low-birth weight neonates. In this report, we present a 36+-week gestation and normal weight newborn with no risk factors developed both NEC and high-grade IVH. Upon investigation, he was found to have a positive thrombophilia profile.