Optic nerve head infiltration in acute leukemia in children: an indication for emergency optic nerve radiation therapy.

Two pediatric patients with acute leukemia who developed optic nerve head leukemic infiltration are presented. In one patient both eyes were involved at diagnosis as well as her central nervous system. Despite systemic and intrathecal chemotherapy she lost her vision within a few weeks. Cranial irradiation at that point could not reverse this outcome. In the second patient optic nerve head infiltration was found a few months after diagnosis, treated promptly with cranial irradiation and her vision was saved. Her central nervous system (CNS) was not involved at any time. It is stressed that ocular complaints including eye pain or blurred vision in the pediatric patient with leukemia should be investigated without delay by an ophthalmologist. In the young child these complaints may be absent and change in the visual behavior should then alert the pediatric oncologist for possible ocular problems. If optic nerve head leukemic infiltration is diagnosed and promptly treated with emergency radiation, vision can be salvaged.

Primary hemochromatosis in children: report of three newly diagnosed cases and review of the pediatric literature.

Hereditary hemochromatosis was diagnosed in three asymptomatic siblings following the unexpected finding of elevated serum iron concentrations. This diagnosis was confirmed by hepatic biopsy. Repeated phlebotomies resulted in a significant decline of serum iron and ferritin concentrations and a decrease of hepatic iron content. This report and a review of the literature indicate that the diagnosis of hereditary hemochromatosis must be considered more frequently in childhood. Organ dysfunction from iron overload may be minimized in children by the early commencement of regular phlebotomy.

Transcobalamin II deficiency: case report and review of the literature.

A male Caucasian infant presented at 6 weeks of age with failure to thrive, diarrhoea, macrocytic anaemia, and decreased IgG. He had normal serum B12 and folate levels. Serum cobalamin binding capacity showed no detectable transcobalamin II. Both parents showed levels consistent with a heterozygous state. The literature is extensively reviewed, and the importance of early diagnosis to prevent neurological dysfunction is stressed.

Thrombocytosis in childhood: a survey of 94 patients.

The introduction of the newer generation of electronic cell counters allows the routine reporting of platelet numbers when the peripheral blood count is requested. In a 12-month period, 100 episodes of marked thrombocytosis (platelet count more than 900 X 10(9)/L) were found among 94 children. These patients were young (median age 9 months). All but one episode of marked thrombocytosis occurred as a phenomenon secondary to a variety of disease states. Infections, especially those involving the central nervous systems were the commonest cause of an elevated platelet count in this series. Malignant diseases alone were rarely associated with thrombocytosis of this magnitude. The elevated platelet count began to decline at a mean of 3 days after diagnosis, and no thrombotic or hemorrhagic complications were encountered. Marked thrombocytosis is a benign, common phenomenon in young children, but specific treatment is not required.

The use of the portal system for the transplantation of a neonate kidney graft in a child with Wilms' tumor.

A single an-encephalus neonate kidney graft was transplanted into the portal system of a 6-year-old recipient who had previously undergone removal of the right kidney and inferior vena cava because of Wilms tumor. The left kidney ceased to function shortly thereafter. The child was supported very poorly on hemodialysis, and showed repeated very high levels of cytotoxic antibodies in her serum. The first cross-negative kidney graft that was available harbored two main arteries and duplicate collecting system with two very thin ureters. These vascular anatomic and pathologic variations of both donor graft and recipient necessitated the use of the portal system for renal graft venous drainage and the aorta for the graft revascularization. The ureters that had pinpoint-like lumen were inserted together into the lumen of the native ureter stump and fixated. One year after the transplantation the serum creatinine level is 1.8 mg/dL.