Secondary hemophagocytic lymphohistiocytosis in a child with Leptospira infection: A case report.

Jevtic D, Djokic D, Redzic D, Aleksic D, Parezanovic M, Pasic S. Secondary hemophagocytic lymphohistiocytosis in a child with Leptospira infection: A case report. Turk J Pediatr 2018; 60: 735-738. Leptospirosis caused by spirochetes of the genus Leptospira in most patients result in very mild illness without jaundice. However, a small portion of patients develop various complications due to the involvement of multiple organ systems. Hemophagocytic lymphohistiocytosis is characterized by prolonged fever, hepatosplenomegaly and cytopenias, hyperferritinemia and hypertriglyceridemias, hyperfibrinogenemia, and hemophagocytosis in bone marrow, lymph nodes, spleen, or liver. Hemophagocytic lymphohistiocytosis associated with leptospirosis is a very rare condition and it should be considered in patients with multiple organ dysfunctions, together with adequate laboratory findings. It can delay the correct diagnosis of leptospirosis and contribute to an adverse outcome. We present a 13-year-old girl with secondary hemophagocytic lymphohistiocytosis caused by leptospira infection and favorable outcome with appropriate antibiotics and corticosteroid therapy.

Aggressive human neuroblastomas show a massive increase in the numbers of autophagic vacuoles and damaged mitochondria.

Autophagy is activated in cancer cells in response to multiple stresses and has been demonstrated to promote tumor cell survival and drug resistance in neuroblastoma (NB). This study was conducted to analyze the ultrastructural features of peripheral neuroblastic tumors (pNTs) and identify the relation of the types of NTs, the proliferation rate, and MYCN gene amplification with a number of autophagic vacuoles. Our results indicate that aggressive human NBs show a massive increase in the number of autophagic vacuoles associated with proliferation rate and that alteration of the mitochondria might be an important factor for the induction of autophagy in NTs.

Pulmonary involvement in siblings with Gaucher disease type III.

INTRODUCTION: Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary disease in GD. CASE REPORT: We reported sisters with pulmonary involvement in GD type III. Respiratory failure with fatal outcome at 3 years and 4 months of age occurred in K.K. due to pulmonary complications of GD. At the time enzyme replacement therapy (ERT) was not available in Serbia. J.K., homozygous for L444P mutation, developed asymptomatic pulmonary involvement at the age of 6 after 2.5 years of ERT. Pulmonary disease in J.K. was verified by high resolution computerized tomography, cytology of bronchoalveolar lavage fluid and histopathology of transbronchial lung biopsy. CONCLUSION: Primary lung disease in children homoallelic for L444P mutation in GBA gene emerges as a significant clinical manifestation of GD with unclear response to ERT.

Diffuse neonatal hemangiomatosis treatment with cyclophosphamide: a case report.

We present 3-month-old male infant with diffuse neonatal hemangiomatosis. There were 63 cutaneous hemangiomas over the scalp, face, trunk, and extremities. Computed tomography scan revealed the presence of hemangiomas in the liver and kidneys; laryngobronchoscopy identified the presence of hemangioma in tracheobronchial tree. The child had symptoms of heart failure therefore digitals and diuretics were administrated. Thyroid functions were normal. Treatment with corticosteroids, in dose of 3 mg/kg/d intravenously, was initiated. As there was no significant clinical improvement, cyclophosphamide was administrated. He received 4 courses, 10 days apart. Each course consisted of 10 mg/kg/d of cyclophosphamide and 10 mg/kg/d of mesna for 4 consecutive days. After 4 cycles of cyclophosphamide, the liver was notably decreased in size and the cardiac failure was resolved. Magnetic resonance imaging of the abdomen revealed the marked decrease in size of the liver hemangioma. After 3 years of follow-up the child is well developed, fully recovered, without cardiologic or respiratory problems.

[Immunohistochemical expression of p53 oncoprotein in Wilms tumour in relation to histological components, histological types and preoperative chemotherapy].

INTRODUCTION: There have been only few studies of immunoexpression of p53 in Wilms tumour (WT), and their results are somewhat contradictory. OBJECTIVE: The aim of the study was to determine p53 immunohistochemical expression in WT in relation to its histological components, histological prognostic types classified according to the SIOP Working Classification of Renal Tumours of Childhood (2001), and influence of preoperative chemotherapy. METHOD: The analyses are based on 79 primary WTs treated in single institution according to SIOP protocols between 1983-2001. For the immunohistochemical detection of p53, the monoclonal p53 antibody (DO-7, DAKO) was used. Semiquantitative grading of nuclear staining was done. RESULTS: The immunoexpression of p53 was significantly higher in the blastemal and epithelial than in the stromal component (p < 0.001). It was significantly correlated to WT histological prognostic types (p = 0.039).The exensivity of p53 immunoexpression was higher in anaplastic components but a difference between WT type of diffuse anaplasia and all other types was nonsignificant (p = 0.10). Five blastemal type WTs were p53 immunopositive and four immunonegative. There was no difference in p53 immunopositivity between WT treated with the preoperative chemotherapy and primary resected WT (p = 0.88). CONCLUSION: The immunoexpression of p53 in WT was significantly higher in the blastemal and epithelial than in the stromal component. It was in significant correlation with histological types of WT. The anaplastic component had noticeable but statistically not significantly higher p53 immunoexpression than non-anaplastic. The preoperative chemotherapy did not modify p53 immunoexpression of WT which had been found in other similar studies.