Complete progressive ophthalmoplegia and numb chin syndrome, the first clinical manifestations of a lethal abdominal Burkitt lymphoma

A 57-year-old patient was admitted to the Neurology Clinic for hypoesthesia, intense pain in the right chin and double vision. During the hospitalization, the patient developed progressive complete bilateral ophthalmoplegia and numbness of both sides of the chin. Brain CT and MRI scans with gadolinium were normal. Standard laboratory tests on admission were normal. The cerebral spinal fluid examination and the infectious and autoimmune workup were also normal. A thoracic-abdominal and pelvic CT scan revealed two hypodense lesions in the liver, irregular thickening of the gastric and ileal wall, and multiple abdominal adenopathies. Meanwhile, the patient developed marked fatigue, fever, sweats, nausea, vomiting and abdominal pain. An exploratory laparotomy was performed that showed multiple tumours of the small intestinal wall, stomach wall, multiple liver masses in both lobes and appendicular tumour. Histopathological findings of the liver biopsy and appendicular walls revealed Burkitt lymphoma. The patient died two days after surgery by cardiopulmonary arrest. This case underscores the importance of keeping BL in the differential diagnosis of patients with rapidly progressive ophthalmoplegia and numb chin syndrome, with normal brain MRI and CSF examinations

HEPATOBLASTOM NECESITÂND TRANSPLANT HEPATIC. PREZENTARE DE CAZ

Hepatoblastomul este o patologie rară la pacienţii pediatrici, afectând 5-10/un milion de copii anual. Prezentăm cazul unui pacient în vârsta de doi ani care a fost internat în Clinica noastră pentru investigarea unei formaţiuni tumorale abdominale. Ecografia şi tomografia computerizată (CT) au evidenţiat o tumoră hepatică solidă de dimensiuni mari, asociind tromboza venei porte drepte. Nivelul alfa-fetoproteinei serice (AFP) şi numărul de trombocite au fost mult crescute. Examinarea histopatologică a biopsiei hepatice a confirmat diagnosticul de hepatoblastom tip epitelial. Chimioterapia a fost iniţiată, urmată de o intervenţie chirurgicală în două etape: ligatura ramului portal drept şi rezecţia tumorală ulterioară. La şase luni după intervenţia chirurgicală o recidivă tumorală a fost suspectată, confirmată de examenul CT şi de nivelurile ridicate ale AFP. Pacientul a beneficiat de un transplant hepatic „de salvare“, cu evoluţie ulterioară favorabilă şi fără recădere de 3 ani. Nivelurile crescute ale alfa-fetoproteinei şi trombocitoza sugerează diagnosticul de hepatoblastom. Transplantul hepatic este opţiunea finală în cazul tumorilor inoperabile, de dimensiuni mari sau al recăderilor

Neuroinflammatory processes are augmented in mice overexpressing human heat-shock protein B1 following ethanol-induced brain injury

Background: Heat-shock protein B1 (HSPB1) is among the most well-known and versatile member of the evolutionarily conserved family of small heat-shock proteins. It has been implicated to serve a neuroprotective role against various neurological disorders via its modulatory activity on inflammation, yet its exact role in neuroinflammation is poorly understood. In order to shed light on the exact mechanism of inflammation modulation by HSPB1, we investigated the effect of HSPB1 on neuroinflammatory processes in an in vivo and in vitro model of acute brain injury. Methods: In this study, we used a transgenic mouse strain overexpressing the human HSPB1 protein. In the in vivo experiments, 7-day-old transgenic and wild-type mice were treated with ethanol. Apoptotic cells were detected using TUNEL assay. The mRNA and protein levels of cytokines and glial cell markers were examined using RT-PCR and immunohistochemistry in the brain. We also established primary neuronal, astrocyte, and microglial cultures which were subjected to cytokine and ethanol treatments. TNF alpha and hHSPB1 levels were measured from the supernates by ELISA, and intracellular hHSPB1 expression was analyzed using fluorescent immunohistochemistry. Results: Following ethanol treatment, the brains of hHSPB1-overexpressing mice showed a significantly higher mRNA level of pro-inflammatory cytokines (Tnf, Il1b), microglia (Cd68, Arg1), and astrocyte (Gfap) markers compared to wild-type brains. Microglial activation, and 1 week later, reactive astrogliosis was higher in certain brain areas of ethanol-treated transgenic mice compared to those of wild-types. Despite the remarkably high expression of pro-apoptotic Tnf, hHSPB1-overexpressing mice did not exhibit higher level of apoptosis. Our data suggest that intracellular hHSPB1, showing the highest level in primary astrocytes, was responsible for the inflammation-regulating effects. Microglia cells were the main source of TNF alpha in our model. Microglia isolated from hHSPB1-overexpressing mice showed a significantly higher release of TNF alpha compared to wild-type cells under inflammatory conditions. Conclusions; Our work provides novel in vivo evidence that hHSPB1 overexpression has a regulating effect on acute neuroinflammation by intensifying the expression of pro-inflammatory cytokines and enhancing glial cell activation, but not increasing neuronal apoptosis. These results suggest that hHSPB1 may play a complex role in the modulation of the ethanol-induced neuroinflammatory response.Peer reviewe

Primary Polyomavirus Infection, Not Reactivation, as the Cause of Trichodysplasia Spinulosa in Immunocompromised Patients

Classic human polyomaviruses (JC and BK viruses) become pathogenic when reactivating from latency. For the rare skin disease trichodysplasia spinulosa, we show that manifestations of the causative polyomavirus (TSPyV) occur during primary infection of the immunosuppressed host. High TSPyV loads in blood and cerebrospinal fluid, sometimes coinciding with cerebral lesions and neuroendocrine symptoms, marked the acute phase of trichodysplasia spinulosa, whereas initiation and maturation of TSPyV seroresponses occurred in the convalescent phase. TSPyV genomes lacked the rearrangements typical for reactivating polyomaviruses. These findings demonstrate the clinical importance of primary infection with this rapidly expanding group of human viruses and explain the rarity of some novel polyomavirus-associated diseases.Peer reviewe

Case Report: Myelodysplastic syndrome- associated myeloid sarcoma: an unusual clinical presentation of a rare disease [version 1; referees: 2 approved]

Myeloid sarcoma results from the extramedullary homing and proliferation of immature myeloid precursors. We present the timeline, events and diagnostic pitfalls related to a 66 year-old male patient’s case, admitted to the Hematology Clinic for pancytopenia, fever, weight loss and fatigue. The severe cytopenia and the few blasts observed in his blood smear indicated a bone marrow biopsy. The bone marrow showed hypercellularity and multilineage dysplasia with the presence of 15% myeloblasts. After the biopsy, he promptly developed paraplegia and nuclear magnetic resonance revealed an epidural tumour which was then resected.In the epidural tumour mass blast-like, round cells were observed with a complex immunophenotype, characterized by myeloperoxidase, CD117, CD15, CD99, leucocyte common antigen positivity and a high Ki-67 proliferation index. Considering the main differential diagnostic issues, the final diagnosis was stated as myelodysplastic syndrome-associated myeloid sarcoma. The prognosis was unfavourable, the bone marrow was quickly invaded by proliferating blast cells, and despite chemotherapy attempts, the patient died

Myelodysplastic syndrome with myelofibrosis in a 12-year-old patient – A case report

Myelodysplastic syndromes are a heterogeneous group of clonal disorders characterized by peripheral blood cytopenia and normal or hypercellular bone marrow with dysplasia in more than one blood cell lineage, unfavorable prognosis, and lack of response to treatment. We present the case of a 12-year-old male patient who was referred to the Hematology and Oncology Department of Pediatric Clinic I Târgu- Mures in May 2016, with splenomegaly and pancytopenia. The osteomedullary biopsy revealed myelofibrosis, discrete dysplasia of the myeloid series and megakaryocytes, blasts CD34+ approximately 10%, which led to the diagnosis of myelodysplastic syndrome with myelofibrosis. The myeloid precursors indicated a high risk of transformation into acute myeloid leukemia, so chemotherapy associated with corticosteroids was started, leading to slight improvements. Although myelodysplastic syndrome associated with myelofibrosis is rare at this age, despite the treatment and favorable progression in the case presented, in the absence of hematopoietic stem cell transplantation the prognosis remains unfavorable

HEPATOBLASTOMA REQUIRING LIVER TRANSPLANTATION. A CASE REPORT

Hepatoblastoma is a rare pathology in pediatric patients, occurring in 5-10/one million children. A two year old patient was admitted to our clinic for intense abdominal pain. On examination he presented a large mass in the right hypochondrium. Abdominal ultrasound and computer tomography (CT) revealed a large, solid hepatic tumor with thrombosis of the right portal vein. Serum alpha fetoprotein (AFP) level and thrombocyte number were increased. Liver biopsy was performed and the histopathological aspect was specific for an epithelial hepatoblastoma. Chemotherapy was initiated, followed by surgery in two steps: right portal branch ligation and subsequent tumor resection. Six months after surgery a relapse was suspected, confirmed by CT and elevated AFP levels. A „rescue” liver transplantation was performed and the patient is disease-free for three years. Elevated AFP and thrombocyte levels point to the diagnosis of hepatoblastoma. Liver transplantation is the final option for extensive, inoperable or relapsing tumors

UN CAZ RAR DE FIBROLIPOM GIGANT AL COAPSEI LA COPIL

Lipoamele sunt tumori benigne compuse din ţesut adipos, tipic localizate subcutanat, mai frecvent în partea superioară a spatelui, la nivelul umerilor, mâinilor şi feselor. Mai rar, lipoamele pot fi întâlnite în profunzimea coapselor. Majoritatea lipoamelor sunt de dimensiuni mici, cântărind doar câteva grame, diametrul maxim fiind sub 2 cm, însă lipoamele gigante au cel puţin 10 cm diametru şi minimum 1.000 g. Prezentăm cazul unei paciente de sex feminin, în vârstă de 14 ani, care observă, de aproximativ două luni şi jumătate, apariţia unei formaţiuni tumorale pe faţa anterioară a coapsei stângi, internându-se pentru investigaţii în Clinica Pediatrie I Tîrgu Mureş, Compartiment Hemato-Oncologie, cu suspiciunea de tumoră de părţi moi. Examenul de rezonanţă magnetică (RMN) efectuat a evidenţiat un lipom intramuscular al coapsei stângi, cu dimensiuni maxime de 66/44/125 mm, fiind transferată în Clinica de Chirurgie şi Ortopedie Pediatrică pentru excizie. Examenul histopatologic a evidenţiat aspectul de fibrolipom

A RARE CASE OF GIANT FIBROLIPOMA OF THE THIGH IN A CHILD

Lipomas are benign tumors consisting of fat tissue that are typically located just beneath the skin, they are most often found on the upper back, shoulders, arms and buttocks. Less commonly, they can be found in deeper tissue of the thigh. Most lipomas are small, weigh only a few grams, and the maximum diameter is under 2 cm, but „‘giant“ lipomas have at least 10 cm in diameter and a minimum of 1,000 g. We present the case of a 14 years old female patient that noticed for about two and a half months, the appearance of a tumor formation in the front side of the left thigh. She was hospitalized for investigations in the department of Pediatric Hematology-Oncology Tirgu Mures, of Pediatric Clinic I, under the suspicion of soft tissue tumor. The magnetic resonance (MRI) performed revealed a left thigh intramuscular lipoma with maximum dimensions of 66/44/125 mm, later being transferred to the Clinic for Pediatric Surgery and Orthopedics for removal. The histopathologic exam revealed fibrolipoma