Case Reports in Pediatrics最新文献

Introduction: Wandering spleen (WS) is a rare condition characterized by abnormal splenic mobility due to congenital absence or acquired laxity of its suspensory ligaments. It is more prevalent in children and women of childbearing age and may present asymptomatically or with acute abdominal symptoms due to splenic torsion, which can lead to infarction or rupture. Presentation of Case: We report a case of a 10-year-old female who presented with a 4-day history of persistent nonbilious vomiting, generalized abdominal pain, and fever. Physical examination revealed a rigid abdomen with tenderness and guarding in the right iliac fossa. Abdominal ultrasound demonstrated an ectopic, enlarged spleen (19 cm) in the lower abdomen, with absent blood flow on Doppler imaging. A contrast-enhanced computed tomography (CT) confirmed splenic torsion, showing the spleen in the mid-abdomen with twisted vascular pedicle and hypoperfusion. The patient underwent urgent splenectomy due to ischemic changes and infarction. Postoperatively, she recovered uneventfully and remained stable during follow-up. Discussion: WS may be congenital, due to incomplete fusion of the dorsal mesentery, or acquired, associated with factors such as pregnancy or chronic splenomegaly. Splenic torsion is the most severe complication, requiring prompt intervention. Imaging modalities such as Doppler ultrasound and CT are critical for diagnosis. Splenopexy is the treatment of choice for viable spleens, whereas splenectomy is necessary for infarcted spleens. Conclusion: WS is a rare, clinically challenging diagnosis requiring high suspicion. Early imaging and surgical intervention are essential to prevent life-threatening complications.

Eosinophilic esophagitis (EoE) is a chronic, immune-mediated disorder characterized by dysphagia, food impactions, and esophageal eosinophilia, which can lead to fibrosis and the formation of strictures. While fibrostenotic complications are relatively rare in children, studies have shown that up to 86% of adults with EoE experience dysphagia and esophageal narrowing, compared to only 6% in children. Furthermore, the incidence of stricture formation in children remains low, with reported rates of approximately 3.4%. The youngest child previously documented with this complication was 3 years old. Risk factors for fibrostenosis in EoE include older age, prolonged disease duration, and increased symptom frequency. This represents the youngest known presentation of such a case and suggests that fibrostenosis may be a distinct phenotype of the disease, rather than merely a progression from the inflammatory form. This case underscores the importance of early and thorough evaluation of EoE, given the potential for early stricture development.

Cerebral venous sinus thrombosis (CVST) is rare in children (0.5%-1.0% of pediatric strokes) and uncommonly associated with closed traumatic brain injury. A 7-year-old girl presented with neurological symptoms following a mild closed craniocerebral injury. Early CT imaging revealed subtle findings that were initially overlooked, leading to delayed diagnosis. Subsequent magnetic resonance imaging (MRI) and magnetic resonance venography (MRV) confirmed the diagnosis of CVST. The patient was successfully treated with enoxaparin bridging followed by rivaroxaban, achieving complete thrombus resolution without bleeding complications. This case highlights the diagnostic challenge of posttraumatic CVST in children, where initial imaging signs may be overlooked. It underscores the importance of vigilant imaging interpretation in pediatric brain trauma with persistent symptoms and demonstrates the efficacy and safety of novel oral anticoagulants (NOACs), specifically rivaroxaban, as a therapeutic option in this population.

The association between spina bifida, specifically myelomeningocele, and autonomic dysfunction is known although rare. This case highlights the severe respiratory compromise that can occur in paediatric patients secondary to myelomeningocele. We describe a case of a neonate who experienced profound respiratory dysfunction following a successful lumbosacral myelomeningocele repair on Day 1 of life, on the background of a prenatal diagnosis of Arnold-Chiari Type II malformation and congenital hydrocephalus. In addition, the patient was found to have an incidental choroid plexus papilloma which was resected along with foramen magnum decompression. Even after multiple successful neurosurgical interventions, the patient experienced a number of apnoeic episodes requiring intubation and ventilation and a prolonged intensive care unit stay. Despite the exceptionally high frequency and severity of the apnoeic-hypoxic episodes, the patient is demonstrating age-appropriate cognitive development and is now ventilated overnight via tracheostomy. There are lessons to be learnt surrounding the multidisciplinary care of these patients, management of respiratory distress, and the different aetiologies in this case. There was also a correlation found between episodes of urinary tract infection and increased frequency of apnoeic episodes, raising the question of whether her bladder irritation may be partially triggering her autonomic dysreflexia, on a background of a significant surgical history.

We present the case of a five-month-old late preterm infant who developed severe bronchiolitis caused by respiratory syncytial virus, requiring hospitalisation and high-flow nasal cannula support. This occurred 142 days after the infant received a single dose of nirsevimab as part of the regional immunisation campaign, administered on day three of life. The patient had no underlying conditions. PCR testing revealed RSV A and human rhinovirus co-infection. The infant improved with supportive care and was discharged in stable condition after 8 days. This case raises concerns about possible waning immunity near the end of the expected 150-day protection window of nirsevimab, particularly in infants immunised early in the RSV season. Additionally, co-infection with hRV may have contributed to disease severity. Although nirsevimab remains a highly effective preventive tool, this case highlights the potential for waning immunity near the end of the protection window and suggests that ongoing surveillance is essential to optimize immunization strategies, particularly in regions with prolonged RSV seasons.

Landau-Kleffner syndrome is a rare age-related childhood epileptic syndrome of linguistic decline and neuropsychological abnormalities as main clinical symptoms. It is a functional language disorder of children, manifesting with auditory verbal agnosia and other predominantly linguistic deficits. Also, cognitive and neurophysiological-behavioural abnormalities might manifest. Clinical seizures have been reported in three-quarters of children. Recent advances in genomic studies have provided important insights into the understanding of neurodevelopmental disorders such as autistic spectrum disorder, intellectual disability, and epilepsy. N-methyl-D-aspartate receptors (NMDARs) are glutamate-gated channels that are essential for synaptic transmission and plasticity in the central nervous system. Impaired NMDAR signaling due to genetic mutation causes a constellation of neurodevelopmental disorders that manifest as intellectual disability, epilepsy, and schizophrenia. A mutation in the GRIN gene which encodes NMDAR subunits can disrupt NMDAR function. In this article, we describe a 5-year-old boy who presented with aphasia and autistic- like behavior; during evaluation, subtle myoclonic jerks were noticed. Electroencephalogram revealed a hypsarrhythmia-like pattern, and following treatment with antiepileptic medications, he showed remarkable improvement in speech with better seizure control. Comprehensive genomic testing identified a heterozygous pathogenic variant in the GRIN2A gene. It is fundamental to maintain an awareness of the possible etiology of different epilepsy syndromes. Further description of this condition is detailed in this article.

This case illustrates the susceptibility of pediatric patients with chronic lung disease, here, a 3-year-old male with structural airway injury and impaired mucociliary clearance from recurrent aspiration (due to Chiari II malformation and spinal dysgenesis), to life-threatening polymicrobial co-infections, even without classic immunodeficiency. The child was admitted with acute respiratory failure and sepsis; imaging demonstrated necrotizing pneumonia and pneumatoceles; bronchoalveolar lavage confirmed ∗Aspergillus∗ galactomannan positivity and ∗Nocardia∗ species, warranting broad antimicrobial therapy and mechanical ventilation. Diagnosis of invasive aspergillosis and treatment initiation were delayed; despite therapy, he developed multiorgan failure and died. This highlights how chronic lung disease predisposes children to catastrophic fungal-bacterial synergies and reinforces the value of early bronchoscopy for targeted treatment. Advanced disease with structural damage portends poor outcomes, underscoring the need for enhanced surveillance in this high-risk cohort.

Background and Objectives: Enteroviruses (EV) mainly cause mild infections but have been found to affect neonates more severely. The aim of this study is the description of symptoms, laboratory findings, treatment, duration of hospital stay, imaging, and outcome in five neonates presenting with EV infection of the central nervous system (CNS). Case Study: All patients had signs of sepsis and/or CNS infection at first presentation and were diagnosed using cerebrospinal fluid (CSF) reverse transcriptase polymerase chain reaction (RT-PCR). One developed seizures and dilated coronary arteries and recovered after treatment with levetiracetam, intravenous immunoglobulins (IVIGs), prednisolone, and acetylsalicylic acid. This patient was also the only one to show CSF abnormalities including mononuclear pleocytosis. C-reactive protein in blood was slightly elevated in 3/5, while interleukin-6 was normal at onset and later increased (58.7-310 mg/dL) in all patients. Neutrophil-to-lymphocyte ratio was elevated (1.02-4.83) in 5/5. Antibiotics were given for 4-7 days; hospital stay lasted 7-13 days. Cerebral ultrasound was done in 2/5 and was normal in both. The patient who developed seizures underwent brain magnetic resonance imaging without pathological findings. The clinical outcome was favorable in all of our five patients. Conclusions: In neonates who appear septic without an apparent focus, EV CNS infection should be considered and can be diagnosed by CSF PCR testing. Diagnosis leads to earlier discontinuation of antibiotic treatment and shorter hospital stay. Neonates with EV infection should be screened for cardiac complications and in severe cases treated with IVIG. CSF abnormalities might predict a more severe disease course and justify closer monitoring.

Terra firma-forme dermatosis (TFFD) is a benign skin condition characterized by persistent brownish, yellowish, or gray-black patches, primarily affecting children and young adults. Diagnosis is typically clinical but can be enhanced using dermoscopy and ultraviolet-induced fluorescence dermoscopy (UVFD). This case report presents three patients diagnosed with TFFD, highlighting the unique UVFD patterns observed and the effective management strategies employed. The findings underscore the importance of recognizing TFFD to alleviate patient concerns and prevent unnecessary interventions.

Increased salivation and contractions of the oropharyngeal muscles are frequently observed in Crisponi syndrome. This causes frequent recurrent lung infections. Anesthesia management can be challenging due to the frequent convulsions that occur during the intubation and extubation of the patient and subsequent cyanosis and hyperthermia attacks. Cold-induced sweating attacks may also occur due to the low operating room temperature. Hyperthermia attacks can lead to rhabdomyolysis and disseminated intravascular coagulation. Sudden deaths may occur in children with Crisponi syndrome. Hyperthermia, paroxysmal muscular contractions and trismus due to autonomic dysfunction are held responsible for sudden deaths.