Taliglucerase alfa in the longterm treatment of children and adolescents with type 1 Gaucher disease: the Albanian experience.

Introduction: Enzyme replacement therapy is already recognized as the gold standard of care for patients with Gaucher disease. Taliglucerase alfa is one of the three alternatives recommended for treatment of Gaucher disease in children and adults. Aim: This study aims to evaluate the long-term efficacy and safety of Taliglucerase alfa in children and adolescents with Type 1 Gaucher disease. Patients and methods: Over a six-year period, we monitored the efficacy of continuous treatment in 10 patients by assessing various parameters, including hemoglobin concentration, platelet count, liver and spleen volume, bone mineral density, glucosylsphingosine level, chitotriosidase activity, and growth parameters. Safety was evaluated by immunogenicity and adverse event monitoring. Results: The mean age of patients was 13.4 ± 3.6 years and the treatment duration was 60.24 ± 13.4 months. From baseline to end line the parameters change as follows: hemoglobin concentration improved from 12.7 (±1.3) to 14.6 (±1.5) and platelet count from 180 (±74) to 198 (±79). The spleen volume, was reduced by 46% (p = 0,007). The chitotriosidase activity decreased from 4,019.7 (±3,542.0) nmoles/ml/hr to 2,039.5 (±1,372.2) nmoles/ml/hr (46% reduction). Glucoylsphingosine level dropped from 119.2 (±70.4) ng/ml to 86.2 (±38.1) ng/ml, indicating a reduction of 28%. Bone mineral density Z-score, improved from -1.47 (±1.76) to -0.46 (±0.99) (69.7% reduction). Out of the 1,301 total administrations, our patients reported only 37 (2.8%) infusion-related adverse events which were mild and transitory. Conclusion: Taliglucerase alfa exhibits good efficacy and a safe profile in the treatment of children and adolescents with Type 1 Gaucher disease.

Skeletal Manifestations, Bone Pain, and BMD Changes in Albanian Type 1 Gaucher Patients Treated with Taliglucerase Alfa.

Gaucher disease is a rare, genetic lysosomal disorder leading to lipid accumulation and dysfunctions in multiple organs. Bone involvement is one of the most prevalent aspects of Gaucher disease. Pain, disability, and reduced quality of life remain the most frequent characteristics of bone involvement in Gaucher patients. Patients and Method. In this study, we will take into consideration data from 24 patients diagnosed with type 1 Gaucher disease. We followed them closely for six years in progress. At baseline, all patients started therapy with taliglucerase alfa at a mean dosage of 45 UI/kg; later, during the study, two of them switched their cure toward velaglucerase alfa. Before baseline evaluations, 12 patients had been treated with imiglucerase at variable duration times. At baseline, we performed an X-ray of long bones and the spine, and each year, different standard assessments were performed, such as bone pain, MRI of the vertebral spine and pelvis, and DEXA for bone density. Four patients left the study for various reasons, two of them at baseline and two others during year 3 (FU3). Results. At baseline, we had 8 children and 16 adults. The average age was 28.7 ± 16.5 SD years. The most frequent skeletal manifestations in our patients were reduction of tibial femoral space (40%), osteonecrosis (36%), and body vertebral reduction (32%). At baseline, 15 patients presented with bone pain to different degrees. Over the years, bone pain in our patients had a gradual improvement. The most dramatic bone pain improvement was seen in a patient who presented bone crises. Another impressive finding was a significant BMD improvement during six years of treatment. Our study showed a significant improvement in BMD comparing FU5 and baseline values (p = 0.0007). Especially children demonstrated a significant improvement in BMD (p = 0.00061) compared to adults (p = 0.3673). Mean BMD change was more indicative in switched patients (p = 0.0142) compared to naïve patients (p = 0.147). Conclusions. Skeletal manifestations are very different in Gaucher type 1 patients. In our study, as a result of long-term evaluations, it was noticed that the most frequent skeletal manifestation was a reduction of tibiofemoral space. Bone pain has gradually improved in all patients. Also, BMD values have been enhanced over six years of treatment, especially in children.

Inflammatory myofibroblastic tumour of the lung: Case report and review of the literature.

Inflammatory myofibroblastic tumour (IMT) of the lung is a rare tumour encountered in children. Although it is seen mostly in paediatric ages, a small number of cases exists in the literature. It may appear as an inflammatory mass or may have the characteristics of a tumour with the ability for recidivism and metastasis. Careful follow-up of the cases is required to differentiate between the two. We present the case of a 4-year-old girl who presented with cough, and the chest x-ray and computed tomography scan revealed a tumour mass in the right lung. After lobectomy, histological examination combined with immunohistochemical study discovered an IMT of the lung.

Aberrant right subclavian artery: a series of case reports and discussion of morphology and its clinical and surgical implications / Arteria subclavia derecha aberrante, una serie de informes de casos y discusión de la morfología y sus implicaciones clínicas y quirúrgicas

SUMMARY: Aberrant right subclavian artery (arteria lusoria) is a rare embryological abnormality but the most common among aortic arch vascular anomalies. It represents an anatomical variant of right subclavian artery originating as the last branch of aortic arch, passing then retroesophageal to the normal position. It is usually asymptomatic and is found mostly incidentally during imaging examinations. Symptoms are produced when the aberrant artery compresses the nearby structures and the most frequent symptoms are dysphagia and dyspnea. It may be associated with other vascular or heart abnormalities. We are presenting a series of case reports which presented an aberrant right subclavian artery alone or associated with other vascular abnormalities, diagnosed incidentally in adult patients while performing CT examinations for other reasons. Through a literature review we aim to discuss the clinical implications of this vascular anomaly, to point out the importance of being aware of it especially in patients with dysphagia or dyspnea or in patients who undergo operations in the thorax and neck or vascular surgery and endovascular procedures involving the aortic arch and its branches.

RESUMEN: La arteria subclavia derecha aberrante (Arteria lusoria) es una anomalía embriológica rara, pero la más común entre las anomalías vasculares del arco aórtico. Representa una variante anatómica de la arteria subclavia derecha que se origina como la última rama del arco aórtico, pasando luego retroesofágicamente a la posición normal. Por lo general, esta anomalía es asintomática y se encuentra principalmente de manera incidental durante los exámenes de imagen. Los síntomas se producen cuando la arteria aberrante comprime las estructuras cercanas y los síntomas más frecuentes son la disfagia y la disnea. Puede estar asociado con otras anomalías vasculares o cardíacas. Presentamos una serie de informes de casos en los que se presentó una arteria subclavia derecha aberrante única o asociada a otras anomalías vasculares, diagnosticada incidentalmente en pacientes adultos durante la realización de TC por otros motivos. A través de una revisión bibliográfica pretendemos discutir las implicaciones clínicas de esta anomalía vascular, señalar la importancia de conocerla especialmente en pacientes con disfagia o disnea o en pacientes sometidos a operaciones de tórax y cuello o cirugía vascular y procedimientos endovasculares. involucrando el arco aórtico y sus ramas.

A rare case report of simultaneous occurrence of a pediatric pleuropulmonary blastoma and an intralobar pulmonary sequestration.

We are presenting a rare case with the simultaneous occurrence of pleuropulmonary blastoma and an intra lobar pulmonary sequestration. Although there have been cases reported previously with pleuropulmonary blastoma associated with congenital pulmonary malformations, the association with an intra lobar pulmonary sequestration is very rare. The patient, a female, 6-month-old child arrived at our pediatric service with the clinic of cough, respiratory distress, and fever after being treated for 2 weeks for left lung bronchopneumonia according clinical signs and radiographic description but without clinical improvements. Contrast enhanced CT images showed the simultaneous presence of 2 different lesions in the left lung, a heterogeneous mass in the superior lobe without delineation with mediastinal structure compatible with a pleuropulmonary blastoma and a consolidation in the inferior lobe with bronchogram present and a systemic vessel feeding compatible with an intra lobar pulmonary sequestration, both confirmed by histologic examinations after the surgical intervention. Although it is very rare, the simultaneous presence of these distinct embryogenic lesions may occur and radiologist should be aware as the imaging diagnosis may be very helpful for the further management of the patient.

Ectopic liver tissue in the left hypocondrium: a case report and a literature review / Tejido hepático ectópico en el hipocondrio izquierdo: reporte de un caso y revisión de la literatura

Ectopic liver tissue is a rare developmental abnormality. It is often asymptomatic and is commonly found incidentally, during surgery or autopsy. It has been reported in various abdominal and extra-abdominal sites, most often in the gall bladder. We are reporting an incidentally found mass in the left subdiafragmatic region, diagnosed as ectopic liver in abdominal CT and intraoperatively. We aim to assess the importance of imaging examinations in the differential diagnosis of intraabdominal masses ranging from benign to malignant entities and to point out that despite the low incidence of ectopic liver, it is necessary to be aware of this diagnostic possibility.

El tejido hepático ectópico es una rara anormalidad del desarrollo. A menudo es asintomático y generalmente se encuentra de manera incidental, durante la cirugía o la autopsia. Se ha informado en varios sitios abdominales y extraabdominales, con mayor frecuencia en la vesícula biliar. Reportamos el caso de una masa encontrada en la región subdiafragmática izquierda, diagnosticada como hígado ectópico en la TC abdominal e intraoperatoriamente. Nuestro objetivo fue evaluar la importancia de los exámenes por imágenes en el diagnóstico diferencial de masas intraabdominales que incluyen masas benignas como también malignas, y señalar que a pesar de la baja incidencia de hígado ectópico, es necesario tener en cuenta esta posibilidad en el diagnóstico.

Circumaortic right renal vein with multiple vascular anomalies.

Circumaortic right renal vein is an extremely rare finding and to our knowledge only 1 case has been reported in the literature so far. Its rareness, in contrast to left renal vein anomalies, is thought to be due to a relatively simple embryologic development of right renal vein compared with left renal vein. On the other hand, association of Circumaortic right renal vein with inferior vena cava agenesis and aortic coarctation is an extremely rare occurrence. Our aim is to introduce a case of Circumaortic right renal vein in a 3-month-old child with inferior vena cava agenesis and aortic coarctation. Discussion on the underlying embryology of Circumaortic right renal vein, its clinical importance and the association with other vascular anomalies, will be on our focus as well. Precise understanding of renal vein anomalies is important when planning retroperitoneal surgery or interventional vascular procedures. Awareness of such anomaly implies crucial knowledge for radiologists who should include it in the medical reports to aid future patient's management.