Case Reports in Pediatrics最新文献

Denosumab is a human monoclonal antibody approved by the Food and Drug Administration in 2013 for use in adults with inoperable giant cell tumor of bone (GCTB). In children, it is used as an off-label drug in some giant cell-rich tumors of bone (GCRTB) and giant cell granuloma (GCG). The aim of the study is to evaluate the efficacy and acute toxicity of denosumab in children. From February 2022 to December 2023, at the Istituto Giannina Gaslini, 5 patients were treated with denosumab, 2 females and 3 males. Age ranged from 8 to 17 years. Two had ABC (hemipelvis and D9), and 3 had GCG (sphenoid, jaw, and maxilla). An assay of calcium and vitamin D as well as a dental scan was performed before administering denosumab due to possible side effects such as hypocalcemia and jaw osteonecrosis. Therapy was given subcutaneously at the dose of 70 mg/m² (weight < 50 kg) or 120 mg (weight > 50 kg) at days +1, +8, +15, +28, and then monthly for 3-5 months, followed by imaging evaluation. Overall, 21 doses were administered to Patient 1, 20 doses to Patient 2, 11 doses to Patient 3, 10 doses to Patient 4, and 9 doses to Patient 5. Calcium carbonate and vitamin D were given as supportive therapy. We observed lesion volume reduction in 4 patients and radiological stability in 1 patient. Surgery was possible in 1 case thanks to the significant reduction of lesion size. A longer administration over 22 months was safe and well tolerated. No disease progression or side effects were observed. This study confirms literature data about the use of denosumab in inoperable GCRTB. These results are preliminary; further studies are necessary on a larger series of cases, with a longer follow-up (3-5 years), with data collection even from other pediatric centers.

Long QT syndrome (LQTS) is a hereditary arrhythmic disorder associated with sudden cardiac death. We report a neonatal case of congenital LQTS that went undiagnosed in utero, leading to severe postnatal complications. A male preterm infant was delivered by emergency cesarean section due to fetal hydrops. Shortly after birth, he developed respiratory failure and metabolic acidosis, followed by ventricular tachycardia and torsades de pointes requiring prolonged resuscitation. During cardiopulmonary resuscitation, the father collapsed, and it was subsequently established that he had been receiving treatment for LQTS. The paternal grandmother also had the same diagnosis. Genetic testing performed for the infant identified a pathogenic KCNH2 variant (c.1714G > A, p.Gly572Ser), confirming Type 2 LQTS. Despite antiarrhythmic therapy and ventricular pacing, the patient developed severe intraventricular hemorrhage and hydrocephalus. This case serves to emphasize the importance of obtaining a detailed family history and the need for effective communication among obstetricians, neonatologists, and cardiologists. In this instance, a lack of awareness regarding familial LQTS contributed to a delay in diagnosis and intervention. Our findings highlight the essential roles played by early detection and prenatal risk assessment through family screening and genetic testing for preventing life-threatening arrhythmia and improving outcomes in congenital LQTS.

We present a case of a premature infant who had a persistent patent ductus arteriosus (PDA) and subsequently developed severe pulmonary hypertension (PHT) and respiratory failure. A lung biopsy was performed during PDA ligation, revealing a consistent thickening of the interstitial tissue. The biopsy also showed the presence of immature interstitial cells containing high amounts of cytoplasmic glycogen, indicative of pulmonary interstitial glycogenosis (P.I.G). There was no conclusive evidence of maturational arrest, infection, alveolar proteinosis, or alveolar capillary dysplasia. While the association between P.I.G and PHT has been documented in case reports involving children with congenital heart disease (CHD), the majority of these cases involved full-term infants and older children. Notably, there have been no reports on the diagnosis of P.I.G in infants with isolated PDA, without any other congenital heart conditions. This expands the existing knowledge of P.I.G, highlighting the diagnostic value of lung biopsy in premature infants with long-standing PDA and severe PHT exhibiting similar characteristics.

West syndrome is a distinctive type of epilepsy characterized by infantile spasms, hypsarrhythmia on EEG, and developmental regression. It affects children between 4 months and 2 years old, with an incidence of 2-3.5 per 10,000 births, being more common in boys. The syndrome is classified into symptomatic, idiopathic, and cryptogenic forms, based on underlying causes such as brain trauma, malformations, infections, chromosomal abnormalities (e.g., Tuberous Sclerosis Complex), or genetic mutations in genes like ARX and CDKL5. This article presents a case of West syndrome in an 8-months-old female without a known genetic cause, despite extensive genetic analysis. The patient presented to us with unprovoked spasms occurring over 2 months. Evaluation through EEG confirmed modified hypsarrhythmia, and MRI revealed significant brain lesions. A comprehensive metabolic panel was negative, and whole exome sequencing for the patient and her parents was inconclusive. This finding is not uncommon, as an estimated 40% of West syndrome cases remain without a confirmed genetic diagnosis. Current treatment recommendations by pediatric neurologists in the GCC include first-line therapy with vigabatrin alone or in combination with high-dose oral corticosteroids. If no response occurs within 2 weeks, ACTH or corticosteroids are added. ACTH, though effective, is less favored due to accessibility, cost, and relapse rates. Vigabatrin has the fewest side effects, followed by corticosteroids, with ACTH presenting the most, particularly irritability and hypertension. This case highlights the challenges in diagnosing and managing West syndrome, especially with inconclusive genetic analysis. It emphasizes the need for continued advancements in genetic diagnostics to uncover new mutations and improve patient outcomes.

Childhood ischemic stroke is rare. Although the standard treatment for ischemic stroke among adults is thrombolytic therapy with recombinant tissue-type plasminogen activator (rt-PA), its use in pediatric patients remains uncertain. Particularly, only a very few reports have studied this treatment among very young children aged < 3 years. We report the case of a 2.5-year-old boy with complex congenital heart disease who developed left hemiparesis and impaired consciousness. Magnetic resonance (MR) imaging confirmed an acute infarct in the right parieto-occipital lobe. He presented with severe neurological deficits and was treated with rt-PA at 3.5 h after symptom onset. The rt-PA at an adult dosage of 0.6 mg/kg was administered as an intravenous bolus and infusion. Initial computed tomography showed no hemorrhage. Post-treatment imaging showed recanalization and no new hemorrhage. The patient exhibited remarkable neurological improvement and was neurologically intact at 12 h postadministration. Follow-up MR imaging performed on Day 16 showed no evidence of ischemia. MR angiography clearly demonstrated the right parieto-occipital artery, which was not depicted on the initial MR images. Our case represents a rare instance of the use of rt-PA in a young child. Despite limited data and absence of pediatric-specific guidelines, this report suggests that rt-PA is effective and can be administered safely in young children with acute ischemic stroke, mirroring adult treatment protocols. However, further research is necessary to establish definitive pediatric guidelines.

Myocardial infarction from coronary ischemia in pediatric patients with Fontan circulation is a rare diagnosis with scarce data reported on it. We describe a case of a teenage male who initially presented with an acute occlusive right middle cerebral artery (MCA) stroke with a history of nonadherence to aspirin. He underwent a thrombectomy shortly after presentation and was not restarted on anticoagulation due to hemorrhagic transformation of the stroke postprocedure. He had no residual neurologic deficits. On the sixth day of his admission and without prior symptoms, he had a sudden cardiac arrest with pulseless electrical activity (PEA). After 80 min of resuscitation, including an unsuccessful attempt to cannulate for extracorporeal membrane oxygenation (ECMO), he was pronounced dead. On autopsy, he was noted to have an acute premortem right coronary artery (RCA) occlusion and blastomycosis infection of the lung. Patients with Fontan circulation are known to have a higher risk for thrombotic events, especially when not on any antiplatelet therapies, as well as immunologic derangements. This case suggests that an indolent infection in the setting of passive blood flow within the Fontan circulation may have contributed to a prothrombotic state which may have ultimately led to the stroke and myocardial infarction.

NEXN variants have previously been described as a cause of both pediatric- and adult-onset dilated cardiomyopathy but are not known to be associated with complex congenital heart disease. We report a case of an antenatal diagnosis of transposition of the great arteries with intact ventricular septum and fetal-onset dilated cardiomyopathy in a neonate with a loss-of-function homozygous frameshift variant in the NEXN gene, c.1589_1590del p.(Arg530Lysfs∗3). Both parents were found to be asymptomatic heterozygous carriers of the same variant at the time of diagnosis.

Infantile fibrous hamartoma (FHI) is a benign soft tissue tumor that primarily occurs in infants. We present the case of a one-year-old male with a paraumbilical subcutaneous mass. Clinical differentials included lipoma versus paraumbilical hernia. Ultrasound revealed a hypoechoic, elongated, poorly defined nodule in the right upper anterior abdominal wall, while immunohistochemistry showed positivity for BCL2, smooth muscle actin (SMA), and cytoplasmic β-catenin. Surgical excision and pathological examination revealed an ill-defined lesion composed of abundant mature adipose tissue interspersed with densely hyalinized fibrous tissue. Paraumbilical FHI can clinically mimic a lipoma or a small hernia. Correlation with targeted ultrasound assists in excluding hernia and guiding surgical management. Surgical removal is generally curative, with a low recurrence rate. This case contributes to the literature on FHI and underscores the importance of considering this entity in the differential diagnosis of subcutaneous masses in infants.

Reactive infectious mucocutaneous eruption (RIME) is a recently identified nosological entity that distinguishes certain mucocutaneous reactions caused by bacterial or viral infections from Stevens-Johnson syndrome (SJS). We present the case of a 14-year-old boy who developed mucositis with minimal skin involvement associated with positivity for rhinovirus and HHV-7, which is consistent with a diagnosis of RIME.

A 19-month-old female patient presented due to rapid weight gain starting at age 5 months. Due to continued abnormal weight gain after 1 year of age, an MRI of the brain was performed, revealing a 5.5 × 2.6 × 2.3 cm mass centered within the medulla oblongata with extension to the C3 vertebral body. Biopsy confirmed a diagnosis of ganglioglioma. A trial of topiramate was attempted, but there was no improvement in weight gain after 2 months. The patient started on 0.3 mg liraglutide daily, and the dose was titrated up to 3 mg daily over 3 months. The patient did not experience abdominal pain, nausea, vomiting, or diarrhea. Weight continued to increase at a drastic rate, and increased appetite persisted. Liraglutide was discontinued. Liraglutide may be safe for use in children as young as age 3 years. However, its effect on weight loss in cases of hypothalamic obesity may be limited. The medulla oblongata contains GLP-1 receptors and is involved in the suppression of food intake. In the presented case, lack of response to treatment was likely due to medullary damage from the tumor. Further research about the etiology of neurogenic causes of obesity is needed so targeted therapies may be developed.