Case Reports in Pediatrics
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Acceptance rate21%
Submission to final decision140 days
Acceptance to publication10 days
CiteScore-
Journal Citation Indicator0.300
Impact Factor0.9

Too Much Salt to My Taste: An Entity to Think about in Neonatal Hypernatremia: A Case Report and Review of the Literature

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Case Reports in Pediatrics publishes case reports and case series related to pediatric subspecialities such as adolescent medicine, cardiology, critical care, dentistry, developmental and behavioral medicine, endocrinology, gastroenterology etc.

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Case Report

Digital Ischemia in an Extreme Preterm Infant Treated with Nitroglycerin Patch

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.

Case Report

From Rarity to Recognition: Infantile Botulism and the Broad Spectrum of Differential Diagnoses

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.

Case Report

A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression

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.

Case Report

Fatal Coronary Artery Anomaly Concealed in Young Athletes with Exertional Syncope

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.

Case Report

Unmasking the Hidden Culprit: A Coma Mimicry in a Child Bitten by Cobra

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. Despite normal electroencephalography results, the patient continued to have absence of brainstem reflexes, spontaneous breathing, and movement. Cobra antivenom was promptly initiated based on suspicions of a neurotoxic snakebite, resulting in a rapid recovery of the patient’s condition. We proposed that neurotoxin snake envenomation should be considered in patients with sudden cardiac arrest with uncertain cause, particularly in snake endemic areas.

Case Report

Successful Termination of Insulin Therapy in Transient Neonatal Diabetes Mellitus

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. Gradually, blood glucose levels improved. The insulin infusion was stopped to determine if any potential pump issues arose prior to discharge; the patient’s blood glucose level did not increase. The decision was therefore made to discharge the patient from the hospital at 58 days of age with discontinued insulin. After discharge, genetic analysis showed hypomethylation on one of the alleles within 6q24, leading to a diagnosis of 6q24-related diabetes mellitus. Although almost all 6q24-related NDM cases are transient, no evidence exists for the appropriate timing of insulin discontinuation. Retrospective continuous glucose monitoring (CGM) analysis showed improved standard deviation (SD) values as well as improved blood glucose variability. This experience suggested SD values of CGM may be used as an index for tapering and discontinuing insulin in SAP therapy. However, future collaborative studies at other centers that focus on SD values as a guide for insulin discontinuation in SAP are required.

Case Reports in Pediatrics
 Journal metrics
See full report
Acceptance rate21%
Submission to final decision140 days
Acceptance to publication10 days
CiteScore-
Journal Citation Indicator0.300
Impact Factor0.9
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