Thrombomodulin and von Willebrand factor: relation to endothelial dysfunction and disease outcome in children with acute lymphoblastic leukemia.

The severe endothelial dysfunction in children with acute lymphoblastic leukemia (ALL) can result from the disease itself, from treatment, or from other conditions (e.g. sepsis). The aim of this study was to determine the levels of markers of endothelial activation in children with ALL and to assess their potential prognostic value. Fifty-two children with ALL, 19 children with ALL 1-10 years after the completion of therapy, and 28 healthy children were studied. In children with ALL, there was a significant increase in thrombomodulin (TM) and von Willebrand factor (vWF) levels during the acute phase of the disease and during treatment. Children with an unfavorable outcome had higher levels of TM. In conclusion, severe endothelial dysfunction is present during the acute phase of ALL and during treatment and appears to result from the disease itself. Serum TM and vWF levels might represent additional, but not independent, prognostic markers in childhood ALL.

Carcinoid tumors of the appendix in children: experience from a tertiary center in northern Greece.

BACKGROUND AND OBJECTIVE: Carcinoid tumors of the appendix are rare in childhood and usually have a benign clinical course. Their incidence in appendectomy specimens ranges from 0.1% to 0.9%. The aim of the study was to report the frequency, clinical presentation, tumor characteristics, and outcome of children with appendiceal carcinoid treated in a pediatric oncology department. PATIENTS AND METHODS: All of the cases referred during a 19-year period (1990-2008) were studied retrospectively. Demographics, clinical presentation, tumor characteristics, and follow-up results were recorded. RESULTS: Among 839 admissions, 19 patients (9 boys) with appendiceal carcinoid were identified during the study period. Their median age was 10.5 years (range 4.5-13.2 years). In all of the cases, diagnosis was established after appendectomy. The mean tumor diameter was 4.55 (± 3.45) mm (range 1-15 mm). Concomitant appendicitis was diagnosed in 12 patients. In 18 children tumor size was ≤ 10 mm and did not infiltrate surrounding tissues. In 1 patient the size was 15 mm and a microscopic rupture of the appendix with infiltration of the surrounding fat was present. All of the tumors were located at the tip of the appendix and were of the classic histological type. Staging and follow-up consisted of abdominal ultrasound, chest and abdominal computed tomography scans, Tc bone scan, urine 5-hydroxylindoloacetic acid levels, and 111In octreotide scan. No patient had metastases requiring further therapeutic interventions. No relapses or other neoplasms occurred during a median follow-up period of 45 months (range 6-118 months). CONCLUSIONS: Carcinoid tumors of the appendix in children are rare. Long-term follow-up revealed that a good prognosis is possible provided they are diagnosed and surgically removed at an early stage.

Isolated central nervous system recurrence in a child with stage IV neuroblastoma.

Neuroblastoma is the most common extracranial solid tumor in children. Survival rates have improved due to advances in treatment with aggressive chemotherapy and autologous bone marrow transplantation. Usual sites of recurrence include the site of primary tumor, residual gross disease, bone, bone narrow, liver, and lungs. The authors describe a 16-month-old boy with stage IV extracerebral primary neuroblastoma who died because of an isolated central nervous system (CNS) relapse. The CNS is a rare site of relapse that is, however, increasingly diagnosed due to prolonged survival. Criteria to identify patients at increased risk of CNS relapse are urgently needed. High-risk patients should be followed-up with brain and spine magnetic resonance imaging (MRI) for timely detection of metastases and appropriate management.

Lissencephaly and mongolian spots in Hurler syndrome.

Hurler disease or syndrome is a disorder of mucopolysaccharide metabolism, inherited as an autosomal recessive trait. We describe a case of a 15-month-old female exhibiting with clinical and laboratory characteristics of the syndrome, central nervous system lesions (lissencephaly, excessive ventricular enlargement and Dandy Walker malformation with vermis atrophy, cerebellar cyst) and mongolian spots in the trunk and extremities. The combination of mongolian spots and severe central nervous system lesions in Hurler syndrome is considered a rare clinical occurrence, while the association with lissencephaly has never been reported.