Case Reports in Pediatrics

This case report presents a unique and challenging scenario involving the diagnosis and management of a sublingual dermoid cyst in a 12-year-old male with autism disorder. Dermoid cysts within the oral cavity are exceptionally rare entities, constituting less than 0.01% of all oral cavity cysts. In addition, their co-occurrence with neurocognitive disorders further complicates the diagnostic process. The patient’s clinical presentation was marked by recurrent epistaxis and behavioral changes, which were compounded by his communication limitations due to autism disorder. A thorough physical examination revealed a sublingual mass causing tongue displacement. However, due to the patient’s inability to effectively communicate symptoms, parental input played a pivotal role in constructing the clinical narrative. Imaging techniques, including computed tomography (CT) and magnetic resonance imaging (MRI), provided essential insights into the cyst’s size, location, and structural characteristics. The successful integration of these modalities aided in achieving a definitive diagnosis. The subsequent intraoral surgical excision of the 6.5 cm cyst yielded a positive outcome, with an uneventful recovery and a six-month follow-up demonstrating no signs of recurrence. This report underscores the significance of multidisciplinary collaboration in navigating the complexities of diagnosing and managing rare oral lesions in patients with neurocognitive disorders. The confluence of two rare conditions necessitates a tailored approach that takes into account communication barriers and the patient’s overall well-being. This case offers valuable insights to healthcare practitioners, highlighting the importance of leveraging advanced imaging technologies and adapting strategies to address the unique challenges posed by such cases. By presenting this exceptional clinical scenario, this report contributes to the medical community’s understanding of nuanced diagnostic processes and patient-centered management techniques.

Introduction. Bartholin’s gland abscesses are rare in pediatric patients, with limited documented cases. This case report aims to contribute valuable insights into managing this uncommon condition in children. Methods. A thorough examination and diagnostic workup were conducted on a 4-month-old female infant presenting with labial swelling. Clinical assessment strongly suggested the presence of a Bartholin’s gland abscess. A culture of purulent discharge revealed the presence of Escherichia coli and Gram-negative Klebsiella pneumoniae. Antibiotic susceptibility testing guided the choice of treatment. Case Presentation. Despite initial treatment with oral antibiotics and sitz baths, there was limited therapeutic response. Close surveillance under the guidance of a pediatric surgeon continued for two months. Subsequently, surgical excision of the Bartholin gland was performed, and the specimen was sent for pathological examination. Results. Pathological analysis revealed signs of ulceration and granulation tissue, indicative of a mixed inflammatory response. An eight-month follow-up demonstrated marked improvement and overall well-being in the patient. Conclusion. This case report underscores the importance of considering Bartholin’s gland abscess in diagnosing labial swelling in pediatric patients. The successful outcome achieved through surgical excision and appropriate antibiotic therapy provides valuable insights for potential treatment approaches in similar cases. Continued research and comprehensive studies are essential for establishing optimal treatment protocols for this patient demographic.

Background. Cytokine storm syndromes (CSS) are life-threatening systemic inflammatory disorders caused by immune system dysregulation. They can lead to organ failure and are triggered by various factors, including infections, malignancy, inborn errors of immunity, and autoimmune conditions. Trisomy 21 (TS21), also known as Down syndrome, is a genetic disorder associated with immune dysfunction, increased infection susceptibility, and inflammation. While TS21 has been linked to infectious-triggered hyperinflammation, its role as a primary cause of CSS has not been confirmed. Case Presentation. We present a case of a 16-year-old male with TS21 with fever, rash, joint pain, and abdominal symptoms. Extensive investigations ruled out infections, autoimmune conditions, malignancies, and inborn errors of immunity as triggers for a CSS. The patient’s symptoms improved with treatment using IL-1 inhibition and corticosteroids. Conclusions. This case reinforces that TS21 is an immune dysregulation disorder and highlights the importance of considering CSS in TS21 patients, even when triggers are unclear. The positive response to IL-1 inhibition in this patient suggests that dysregulation of the IL-1 superfamily and the NLRP3 inflammasome may contribute to CSS in TS21. This finding raises the possibility of using IL-1 inhibition as a treatment approach for CSS in TS21 patients.

In exclusively breastfed newborns, hypernatremic dehydration is associated with a free water deficit secondary to insufficient fluid intake. Failure of newborns to regain their birth weight by the 10th day of life should be investigated urgently. In this report, we present a case of a 2 -week-old girl who presented to our institution for 30% weight loss and was found to have severe hypernatremic dehydration associated with acute renal failure (creatinine 4 mg/dL). Upon further investigation, the breast milk sodium content was found to be extremely elevated (90 mEq/L). To our knowledge, the following reported case of severe neonatal hypernatremic dehydration associated with acute renal failure has the most elevated breast milk sodium content, serum sodium, and serum creatinine levels described in the literature. Thus, hypernatremic dehydration secondary to elevated breast milk content should always be borne in mind and investigated whenever suspected.

Ischemic limb lesions occasionally occur in neonates admitted to neonatal intensive care units. Known risk factors include the placement of arterial catheters, arterial punctures to obtain blood samples, and the use of vasoactive/vasopressor medications for hypotension. Prolonged peripheral tissue ischemia may result in serious complications, and successful management depends on early detection, proper assessment, and the institution of appropriate intervention. Currently, there is no standard approach for the management of peripheral tissue ischemia in extreme preterm infants. Topical nitroglycerine use is one of the promising options used to manage ischemic limb injuries in neonates, as demonstrated in several case reports. We report a case of digital ischemia in an extreme preterm infant with no clear risk factors except extreme prematurity, which recovered after topical nitroglycerine therapy.

This case illustrates a 5-week-old girl who presented with decreased activity, decreased feeds, poor suck, weak cry, lethargy, hypotonia, and areflexia. The child was found to have infant botulism. The case demonstrates the importance of a full history and broad differential in an ill-appearing infant. The differential for an ill-appearing infant should always include infectious etiologies and may include metabolic disorders, congenital anomalies, nonaccidental trauma, neurologic disorders, and endocrine disorders. The broad differential diagnosis may make rapid diagnosis and treatment for infantile botulism a challenge.