A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic RegressionRead the full article
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.
Case Reports in Pediatrics maintains an Editorial Board of practicing researchers from around the world, to ensure manuscripts are handled by editors who are experts in the field of study.
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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.
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.
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.
Acute Cheilitis Associated with Oseltamivir after Influenzae A Infection
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.
Chronic Morel-Lavallée Lesion in a Pediatric Patient: An Underrecognized Sequela after Trauma
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 for Small for Gestational Age Short Stature Develops Type 2 Diabetes
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 (−2.5 SD) and 13 kg (−0.19 SD), respectively. She was placed on GH therapy. At 11 years of age, her fasting blood glucose and hemoglobin A1c levels were 116 mg/dL and 7.4%, respectively. Blood test results were negative for anti-glutamic acid decarboxylase and anti-islet antigen-2 antibodies. The patient discontinued GH therapy and started diet therapy and oral metformin (500 mg/day) administration. Five months later, the hemoglobin A1c level was 5.3% and glycemic control further improved. To our knowledge, family history may be an important risk factor for GH-induced diabetes. So, the GH dosage for patients born SGA with family history of diabetes should be adjusted so as not to be too excessive, and long-term follow-up studies will be required to evaluate fully the effects of GH therapy for them.