Case Reports in Pediatrics

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.

Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.8) in PRRT2 is responsible for the majority of BFIS cases. In this report, we present a rare case of a girl with a confirmed clinical and genetic diagnosis of BFIS due to a frameshift heterozygous mutation in PRRT2 (c.649dupC). She exhibited typical neurodevelopment until 15 months of age, followed by an unexpected severe autistic regression. In addition to BFIS, PRRT2 mutations are also associated with paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions and paroxysmal choreoathetosis (ICCA), indicating a complex genotype-phenotype heterogeneity in PRRT2 mutations. This clinical observation highlights the possibility that BFIS patients with PRRT2 mutations may not always have a benign neurodevelopmental prognosis, emphasizing the need for long-term clinical follow-up.

Background. Syncope is a common symptom in children, many of which are benign and do not require treatment. Anomalous aortic origin of a coronary artery (AAOCA) is a rare congenital malformation but can be a risk for serious cardiovascular events, including sudden death as well as cardiogenic syncope. Case Report. We describe the case of a 14-year-old boy who suffered an initial syncope and afebrile seizure during a soccer game. A detailed medical history and imaging studies led to the diagnosis of the anomalous aortic origin of the left main coronary artery with an intramural course (AAOLCA-IM). Conclusion. Symptomatic AAOLCA-IM has the highest risk of sudden death among AAOCA, and surgical repair may be performed. Onset during exercise or preceding chest symptoms are suspicious signs of cardiogenic syncope and should be considered for cardiovascular imaging evaluation.