Late ovarian relapse of TEL/AML1 positive ALL confirming that TEL deletion is a secondary event in leukemogenesis.

We describe here a late extramedullary ovarian relapse in an 18-year-old female who was diagnosed with hypotetraploid cell acute lymphoblastic leukaemia (cALL) at the age of 6. At both occurrences of the disease cells were analyzed by morphology, immunophenotyping, cytogenetics and molecular methods. TEL/AML1 was detected by RT-PCR and FISH analysis in both events. We demonstrated, using detection of IGH/TCR rearrangements and TEL/AML1 breakpoints sequencing that the cells were clonally related. Moreover, interphasic FISH using TEL and AML1 probes showed the loss of a second TEL at the time of relapse. This observation confirms that TEL/AML1 alone is not sufficient to trigger ALL and that TEL deletion is a secondary event in leukemogenesis. To our knowledge, it is the first complete description of extramedullary ALL relapse combining all methodologies.

Successful endoscopic drainage of a pancreatic pseudocyst in a 17-month-old boy.

UNLABELLED: Pancreatic pseudocysts (PPCs) develop in 10% to 30% of children with acute pancreatitis. PPCs that impinge on neighbouring structures, cause pain, or fail to undergo spontaneous resolution must be drained. Surgery and percutaneous aspiration are the most widely used techniques for draining PPCs. We successfully performed an endoscopic drainage in a 17-month-old boy. A nasobiliary catheter was inserted via the gastric wall under endoscopic guidance to drain an 8 cm PPC of unknown origin responsible for pain, ascites, and displacement of the stomach with vomiting. The cyst collapsed. Eighteen months later, the child had no symptoms or abnormalities by laboratory testing or ultrasonography. Whereas endoscopic drainage is widely used to treat PPC in adults, only five paediatric cases have been published. CONCLUSION: as compared to surgery, endoscopic drainage has provided similar efficacy and recurrence rates, with less morbidity.

Central neurotoxicity of cyclosporine in two children with nephrotic syndrome.

The central neurotoxicity of cyclosporin A (CsA) has been abundantly documented in pediatric and adult recipients of bone marrow or organ transplants, with variations in the rate of occurrence from 0.5% to 35%. We report two cases of central neurotoxicity ascribable to CsA in children with nephrotic syndrome due to lipoid nephrosis. The manifestations of CsA-related central neurotoxicity include confusion, aphasia, dystonias, akinetic mutism, parkinsonism, palsies, seizures, catatonia, coma, brain hemorrhage, and cortical blindness. Decreased density of the cerebral white matter is visible by computed tomography (CT) in 50% of cases, with the most commonly involved sites being the occipital cortex, the cerebellum, the periventricular substance, and the brainstem. Magnetic resonance imaging is more sensitive and more specific than CT for investigating the white matter. High-signal lesions are seen on T2-weighted sequences in the areas that are abnormal by CT. Many risk factors have been reported, including hypomagnesemia, hypocholesterolemia, high-dose glucocorticoid therapy, arterial hypertension, and infections. We present two patients with central neurotoxicity both of whom have elevated cholesterol levels.