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

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-3β,5α,6β-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

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

open8noBACKGROUND: 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.openFraia Melchionda;Stefania Varani;Filomena Carfagnini;Tamara Belotti;Trentina Di Muccio;Roberto Tigani;Rosalba Bergamaschi;Andrea PessionFraia Melchionda;Stefania Varani;Filomena Carfagnini;Tamara Belotti;Trentina Di Muccio;Roberto Tigani;Rosalba Bergamaschi;Andrea Pessio

Acute Hemiplegia and Facial Palsy 4-Months after Acute Kawasaki Disease in a 31-Month Old Girl

Kawasaki disease (KD) is an acute systemic vasculitis of unknown pathogenesis that affects small and medium-size blood vessels. Coronary arterial lesions are the best known KD complications but many others are well known and involve various anatomical districts in the acute and sub-acute period of KD. Cerebral infarction revealed by acute neurological manifestations is extremely rare, and till now true stroke events were reported only in the acute or sub-acute stage of patients with KD. We describe a 31-month-old girl referred to our Paediatric Emergency Unit for the appearance of left hemiplegia and facial palsy 4-months after an acute episode of an uncomplicated KD. Magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) showed hyperintensity lesions due to cerebral infarction in the absence of thrombosis or aneurysms of medium and large-vessels. Recently, the use of MRI and/or SPECT in KD patients has outlined a great variability in cerebro-vascular involvement showing various degrees of cerebral hypoperfusion, with or without neurological symptoms. Considering the normality of MRA studies in our patient we can assume that the appearance of stroke is due to a progressive degeneration of her small vessels leading to an arteritic complication that was not completely resolved after the previous acute KD illness. In conclusion and in order to prevent long-term arteritic vascular damage, probably anti-platelet therapy should be continued for more than 6 to 8 weeks also in patients without coronary aneurismatic degeneration in the early KD stage

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