Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis.

Ocular ischemic syndrome is extremely rare in childhood. Patients with moyamoya disease may be particularly susceptible to the development of ocular ischemia due to the associated carotid occlusion. A 19-month-old boy presented with neurofibromatosis and signs of ocular ischemia. At 29 months of age, he developed dense right vitreous hemorrhage and eventually lost vision in that eye due to phthisis. At almost six years of age, he developed an acute hemiplegia and was then diagnosed with moyamoya disease. This rare instance of childhood ocular ischemia in conjunction with moyamoya disease and neurofibromatosis demonstrates the serious ocular and systemic sequelae of occlusive vascular disease.

Fundus measurements with indirect ophthalmoscopy. An experimental approach.

We examined the factors influencing the accuracy of indirect ophthalmoscopic estimates of choroidal tumor size by studying indirect ophthalmoscope photographs of solid black domes implanted in the suprachoroidal space of postmortem human eyes. Measurements of the indirect ophthalmoscope photographs showed clinically significant differences in the absolute diameter of the visualized fundus, which varied with differences in condensing lens power and width, anteroposterior location of viewed fundus, and axial length of the experimental eye. Linear regression analysis demonstrated that the field of view of each condensing lens varied similarly with axial length and that the majority of variation in field size for each condensing lens was attributable to axial length variation. Equatorial fields of view averaged 11% smaller than posterior fields of view. The accuracy of estimated absolute intraocular dimensions using indirect ophthalmoscopy potentially approaches +/- 5%.

Bone marrow transplantation for patients with myelodysplasia. Pretreatment variables and outcome.

STUDY OBJECTIVE: To determine the efficacy of allogeneic bone marrow transplantation for severe myelodysplasia, and to identify variables predictive of outcome. DESIGN: Case series study. SETTING: A referral-based bone marrow transplant center. PATIENTS: Consecutive series of 59 patients with myelodysplasia or closely related disorders and either life-threatening cytopenia or a progressive increase in marrow blast percentage. INTERVENTION: Patients were treated with high-dose cyclophosphamide and total body irradiation followed by allogeneic bone marrow transplantation from either an HLA-identical (n = 45) or HLA-partially matched (n = 14) donor. MEASUREMENTS AND MAIN RESULTS: The product-limit estimate for disease-free survival 3 years after transplant is 45% (95% CI, 32% to 59%). The commonest causes of death after transplant were disease recurrence, interstitial pneumonia, and graft-versus-host disease, accounting for eight deaths each. In a univariate analysis, younger patients, those with shorter disease duration, and those whose disease was characterized by an abnormal cytogenetic karyotype had better survival and disease-free survival than the group as a whole. In a multivariate analysis, younger age and abnormal karyotype were independent predictors of improved disease-free survival and overall survival. Patients who received transplants when they had fewer blasts in their bone marrow had a decreased chance for disease recurrence when compared with patients with excess blasts. CONCLUSIONS: Bone marrow transplantation offers a potential cure for many patients with myelodysplasia. Best results can be expected in younger patients who receive transplants relatively early in their disease course.

Clonal cytogenetic abnormalities in patients with otherwise typical aplastic anemia.

Between June 1981 and August 1986, 183 patients with the referring diagnosis of aplastic anemia were evaluated with cytogenetic studies and marrow biopsies. Seven patients (4%) on biopsy were found to have myelodysplasia. Seven of the 176 patients (4%) with marrow biopsies that confirmed the pathologic diagnosis of severe aplastic anemia were found to have clonal cytogenetic abnormalities in unstimulated marrow samples. Among the 169 patients with typical aplastic anemia and no cytogenetic abnormalities, 5 (3%) subsequently developed either myelodysplasia or leukemia. Two of three patients with pathologically confirmed aplastic anemia and clonal cytogenetic abnormalities, who were not transplanted, developed myelodysplasia. These results demonstrate that approximately 4% of patients with aplastic anemia have clonal cytogenetic abnormalities of marrow cells, and that while all patients with aplastic anemia may have some risk of developing leukemia, those with a cytogenetic abnormality have an especially high risk.