Abnormal Locations of Thymic Tissue as an Uncommon Cause of Neck Masses in Children: A Practical Approach.

BACKGROUND: The thymus gland is a lymphoid organ normally located in the anterior mediastinum. Location abnormalities of the thymus, such as ectopic thymus or the superior herniation of a mediastinal thymus, could be responsible for the occurrence of cervical masses in pediatric patients, raising concerns among clinicians. The knowledge of these conditions is essential for a thorough differential diagnosis and for preventing unnecessary invasive procedures. METHODS: Descriptive retrospective series of three patients with a cervical mass, that was later diagnosed as ectopic thymic tissue. RESULTS: The thymus has a unique and distinctive ultrasound appearance that is the keystone to detecting thymic parenchyma in locations other than anterior mediastinum. In selected patients, an accurate ultrasound could be conclusive for the diagnosis, with no need for further and potentially risky procedures. CONCLUSIONS: This case series supports the use of ultrasound in both diagnosis and follow-up of thymus location abnormalities, advocating a minimal invasive and conservative approach.

Congenital lung malformations: can we avoid computed tomography? A five-year study.

Purpose: Congenital lung malformations (CLMs) consist of a variety of pulmonary development disorders. In the CLM approach, computed tomography (CT) is considered the gold standard imaging technique due to the high-resolution for the lung parenchyma evaluation, the study of the vascular system after contrast injection, and the multiplanar reconstructions. In the paediatric population CT is considered too invasive due to ionizing radiation and the use of contrast agent. Therefore, the indications for the use of magnetic resonance imaging (MRI) are increasing. The aim of our study is to compare retrospectively MRI and CT in the evaluation of CLMs, to reduce or avoid the use of contrast-enhanced CT in the paediatric population. Material and methods: We retrospectively evaluated 22 paediatric patients with prenatal diagnosis of CLMs. All the patients underwent postnatal MRI in the first 2 weeks of life (except for a patient) and pre-surgery contrast-enhanced CT. A total of 7 blinded radiologists divided into 3 different groups independently reviewed each MRI and CT examination. Sensitivity and specificity of radiologists with different years of experience on the field, as well as of MRI findings regarding every pathology, were evaluated using a ROC curve. The interobserver agreement regarding the MRI findings was also measured. Results: Analysing the ROC curves, we observed that MRI provided a satisfactory accuracy for diagnosing most congenital pulmonary diseases. Conclusions: Our study showed that MRI without contrast agent allows us to reach a CLM diagnosis in good agreement with contrast-enhanced CT, which is considered the gold standard imaging technique.

Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis.

Wolman Disease (WD) is a severe multi-system metabolic disease due to lysosomal acid lipase (LAL) deficiency. We report on a WD infant who developed an unusual hemophagocytic lymphohistiocytosis (HLH) phenotype related to WD treated with sebelipase alfa. A male baby came to our attention at six months of life for respiratory insufficiency and sepsis, abdominal distension, severe hepatosplenomegaly, diarrhea, and severe growth retardation. HLH was diagnosed and treated with intravenous immunoglobulin, steroids, cyclosporine, broad-spectrum antimicrobial therapy, and finally with the anti-IL-6 drug tocilizumab. WD was suspected for the presence of adrenal calcifications and it was confirmed by LAL enzyme activity and by molecular analysis of LIPA. Plasma oxysterols cholestan-3ß,5α,6ß-triol (C-triol), and 7-ketocholesterol (7-KC) were markedly increased. Sebelipase alfa was started with progressive amelioration of biochemical and clinical features. The child died from sepsis, 2 months after sebelipase discontinuation requested by parents. Our case shows the importance of an early diagnosis of WD and confirms the difficulty to reach a diagnosis in the HLH phenotype. Sebelipase alpha is an effective treatment for LAL deficiency, also in children affected by WD. Further data are necessary to confirm the utility of measuring plasma c-triol as a biochemical marker of the disease.

Massive Pericardial Effusion in a 14-Year-Old Girl with Mild Fatigue and Neck Pain.

Pericardial effusion is rare in pediatric patients and is characterized by a variable clinical presentation. Mild symptoms may be present despite severe effusion. We here report the case of a patient with massive pericardial effusion with mild clinical presentation. Our case points out the need not to exclude this diagnosis in patients with mild general impairment. This clinical suspicion can be lifesaving.

Atypical Findings of Shwachman-Diamond Syndrome in Early Infancy: A Diagnostic Challenge.

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by hematological abnormalities, exocrine pancreatic insufficiency, and skeletal dysplasia. We describe a 2-month-old girl with intrauterine and extrauterine growth restriction who presented with an isolated severe anemia requiring red blood cell transfusion, without gastrointestinal symptoms, history of infection, or congenital abnormalities. An abdominal ultrasound revealed a reduced pancreatic thickness and abnormal echogenicity without fat infiltration, further confirmed by MRI. Because of this peculiar pancreatic appearance, pancreatic function was investigated and revealed exocrine insufficiency. Genetic testing confirmed SDS diagnosis. The typical clinical, laboratory, and imaging features of SDS are often lacking in the first months of life, and this may delay diagnosis. In early infancy, low birth weight and lack of catch-up growth, isolated hematological abnormalities other than neutropenia and atypical pancreatic imaging may lead to SDS diagnosis even when the most common diagnostic criteria are not fulfilled.

Extensive solitary lymphatic malformation of the liver in a child: a case report and literature review.

Intrabdominal lymphatic malformations are rare benign congenital vascular anomalies that account for less than 5% of benign masses in childhood, with an extremely variable clinical presentation. For this reason, although their radiological appearance is usually typical, diagnosis can be challenging and not always immediate. This report describes a unique case of extensive solitary hepatic lymphatic malformation in a 10-year-old boy with both extra- and intraparenchymal development with no associated symptoms. A literature review of reported cases of solitary hepatic lymphatic malformation is also included.

Severe neonatal COVID-19: Challenges in management and therapeutic approach.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the etiological agent of coronavirus disease 2019 (COVID-19), may manifest as a life-threatening respiratory infection with systemic complications. Clinical manifestations among children are generally less severe than those seen in adults, but critical cases have increasingly been reported in infants less than 1 year of age. We report a severe case of neonatal COVID-19 requiring intensive care and mechanical ventilation, further complicated by a multidrug-resistant Enterobacter asburiae super-infection. Chest X-rays, lung ultrasound, and chest computed tomography revealed extensive interstitial pneumonia with multiple consolidations, associated with persistent increased work of breathing and feeding difficulties. SARS-CoV-2 RNA was detected in respiratory specimens and stools, but not in other biological samples, with a rapid clearance in stools. Serological tests demonstrated a specific SARS-CoV-2 antibody response mounted by the neonate and sustained over time. The therapeutic approach included the use of enoxaparin and steroids which may have contributed to the bacterial complication, underlying the challenges in managing neonatal COVID-19, where the balance between viral replication and immunomodulation maybe even more challenging than in older ages.

Occurrence of Albifimbria verrucaria in the Blood of a Female Child With Neuroblastoma.

We report for the first time the occurrence of a filamentous fungus, Albifimbria verrucaria, in the blood of a pediatric neuroblastoma patient. The Albifimbria genus comprises common soil-inhabiting and saprophytic fungi and has been isolated as a plant pathogen in Northern and Southern Italy. As a human pathogen, A. verrucaria has been implicated in keratitis and can produce trichothecene toxins, which are weakly cytotoxic for mammalian cell lines. A. verrucaria was isolated from blood during the follow-up of a previous coagulase-negative Staphylococcus catheter-related infection. Lung nodules, compatible with fungal infection, had been observed on a CT scan 6 months earlier; they still persist. Possible routes of transmission were considered to be airborne, catheter related, or transfusion dependent, as the patient had undergone platelet and red blood cell transfusions during rescue chemotherapy. No filamentous fungi were isolated from sputum or CVCs. In conclusion, we describe an unprecedented fungemia caused by A. verrucaria and show how an unexpected pathogen may be acquired from the environment by patients at high risk due to immunosuppression. The route of transmission remains unknown.

Posterior reversible encephalopathy syndrome associated with licorice consumption: a case report in a 10-year-old boy.

BACKGROUND: Posterior reversible encephalopathy syndrome is characterized by a combination of clinical-radiological findings and pathophysiologically by localized brain vasogenic edema. Many clinical illnesses may trigger the onset of posterior reversible encephalopathy syndrome and hypertension is present in about 80% of patients. METHODS: We describe a child with high consumption of licorice toffees who developed systemic hypertension followed by posterior reversible encephalopathy syndrome. RESULTS: This boy was hospitalized following a cluster of generalized tonic-clonic seizures. Monitoring his clinical parameters, we detected constant high blood pressure and a brain magnetic resonance scan showed a localized vasogenic edema; these symptoms suggested posterior reversible encephalopathy syndrome. He had been eating licorice toffees for a period of 4 months, consuming an estimated 72 mg of glycyrrhizic acid per day; this led to our assumption of the reason for his hypertension. CONCLUSION: There are several reported examples of posterior reversible encephalopathy syndrome-induced licorice hypertension in adults, but none related to children. Our report examines a possible link between licorice consumption and hypertension/posterior reversible encephalopathy syndrome in children.

Spleen nodules: a potential hallmark of Visceral Leishmaniasis in young children.

BACKGROUND: Visceral leishmaniasis (VL) is a severe disease caused by Leishmania infantum in the Mediterranean basin, and is associated with considerable morbidity and mortality. Infantile VL may begin suddenly, with high fever and vomiting, or insidiously, with irregular daily fever, anorexia, and marked splenomegaly. Delays in diagnosis of VL are common, highlighting the need for increased awareness of clinicians for VL in endemic European countries. CASE PRESENTATION: We report 4 cases of young children in northern Italy presenting with persistent fever of unknown origin and diagnosed with VL by serological and molecular methods. At the time of diagnosis, these patients showed an unusual echographic pattern characterized by multiple iso-hypoechoic nodules associated with splenomegaly. CONCLUSION: We suggest that detection of spleen nodules represents a signature of VL in infants, thus helping to diagnose systemic Leishmania infantum infection in children.

Congenital bilateral mid-ureteral stricture: a unique case.

Congenital mid-ureteral stenosis is a very rare entity which typically occurs on one side. This condition is usually misdiagnosed as hydronephrosis or megaureter, and only after surgery is the correct diagnosis made. We report the case of a bilateral mid-ureteral stenosis. No other cases of bilateral strictures have been found in the literature.