Case Reports in Pediatrics

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 ...

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...

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)...

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...

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...

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.Arg217Profs ∗ 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...

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)...

Snake bite is a significant public health concern, particularly in tropical regions. Individuals who are bitten by neurotoxin snake commonly present with ptosis, ophthalmoparesis, muscle weakness, and diminished or absent of deep tendon reflexes. However, accurately determining the occurrence of a snakebite can sometimes be challenging, potentially leading to misdiagnosis. We present the case of a 2-year-old boy with sudden cardiac arrest. Following a brief resuscitation, he had return of spontaneous circulation...

A sensor-augmented pump (SAP) therapy is used to treat neonatal diabetes mellitus (NDM). We treated a case for which SAP therapy was successful and prevented hypoglycemia. The patient was a baby boy who was small for his gestational age. He had hyperglycemia at 4 days of age, and a diagnosis of NDM had previously been made at another hospital. A continuous intravenous insulin infusion was initiated. At 29 days of age, the patient was transferred to our hospital for further treatment. SAP therapy was initiated at 39 days, which was successful and prevented hypoglycemia...

Oseltamivir is a neuraminidase inhibitor used to treat acute influenza A or B in adult and pediatric patients. Adverse reactions are usually mild. Here, we report novel side effects associated with oseltamivir. The patient was an 11-year-old girl who developed lower lip cheilitis and stomatitis, after taking oseltamivir. Her symptoms and signs resolved within 36 h of oseltamivir discontinuation. She has clinically fully recovered and has remained well.

Morel-Lavallée lesions are serious internal degloving injuries associated with trauma. Its diagnosis and treatment can be challenging. We describe the surgical treatment of a case of a chronic Morel-Lavallée lesion in a pediatric patient who sustained an injury to her left thigh during an all-terrain vehicle accident more than a year ago.

Growth Hormone therapy has been shown to induce transient insulin resistance in children, and there is concern regarding the diabetogenic potential of GH therapy in children born small for gestational age (SGA). In this case, female patient born SGA with a weight of 2,750 g (-1.73 standard deviation (SD)) and length of 45.5 cm (-2.6 SD). The patient's father and paternal grandfather were diagnosed with type 2 diabetes mellitus. At 3 years of age, the patient presented with short stature; height and weight were 85 cm (-2...

Congenital hepatic fibrosis is a rare, autosomal recessive, fibro-polycystic disease resulting from ductal plate malformation, leading to proliferation and fibrosis of bile ducts. Progressive hepatic fibrosis leads to portal hypertension and varices which can present with life threatening gastrointestinal hemorrhage. We report a case of congenital hepatic fibrosis in a 2-year-old child who presented with 8 days of fever without any significant medical history or physical examination findings.

Anorectal malformations (ARM) without a fistula are a rare congenital condition. Although may seem more simple to repair compared with ARM with fistulas, surgery has proved to be challenging. We report the case of a newborn who presented a well-formed anus and normal genitalia; a blind-ending anal canal was detected after the insertion of a rectal probe, thus allowing the diagnosis of ARM. Anal probing straight after birth avoids the possible complications related to intestinal obstruction due to a missed diagnosis of ARM...

The Vogt-Koyanagi-Harada syndrome (VKHS) is a unique form of granulomatous autoimmune disease that mostly impacts the pigmented tissues of the body. The main feature is bilateral granulomatous panuveitis, which is detected on ophthalmologic examination, along with additional systemic signs such as vitiligo, white hair, neurological involvement, or hearing loss. This study aims to report two cases of Vogt-Koyanagi-Harada syndrome presented in the children age group, which is unusual and very rare, to improve recognition of this disease to avoid complications and delay referral...

BACKGROUND: Symptomatic hypocalcemia secondary to vitamin D deficiency (VDD) is rare among adolescents without underlying medical disorders, but its prevalence is higher in known risk populations. We report on three adolescent males with low nutritional intake of vitamin D and calcium and limited sun exposure who presented with hypocalcemic tetany and muscle cramps due to VDD during the COVID-19 pandemic. Case Reports . Three adolescent males (age range 14 to 16 years) presented with symptomatic hypocalcemia: paresthesia, carpopedal spasms, and muscle cramps...

Donohue syndrome (DS) is a rare recessively inherited disorder characterized by severe insulin resistance caused by genetic defects affecting the insulin receptor. The classical clinical characteristics include severe intrauterine growth restriction, craniofacial dysmorphic features, body and skin features, and soft tissue overgrowth. Postnatal growth retardation, cardiac, gastrointestinal, and renal complications, and infection susceptibility develop within the first few months of life, leading to a short life expectancy (<2 years)...

Asymptomatic esophageal eosinophilia (aEE) is a rare presentation, where patients have increased eosinophils in esophageal mucosa but lack any esophagus-related symptoms. Cases of aEE have only been documented in adults, and little is known about its clinical significance and whether treatment is warranted. We report a case of an 11-year-old patient with uncontrolled severe persistent asthma who underwent flexible bronchoscopy and upper endoscopy as a part of complete aerodigestive evaluation. Elevated intraepithelial eosinophils in the esophageal mucosa were noted, suggesting an aEE-like presentation...

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Introduction . Differentiating Crohn's disease (CD) and Behçet's disease (BD) with gastrointestinal (GI) manifestations can be clinically challenging, as current diagnostic criteria are not clear between both conditions and multiple symptoms could overlap. Case Presentation . The patient is an 8-year-old boy of Brazilian descent, who initially presented with a 1-year history of painful oral ulcers. Before presenting to the hospital, he had been treated for periodic fever, aphthous stomatitis, pharyngitis, and adenitis and placed on steroids, with relapsing symptoms on attempts to wean the doses...