[Progressive transfusion siderosis with pluriglandular endocrinopathy in congenital aplastic anemia (Blackfan-Diamond syndrome)].
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Four males with sidersosis oculi were reviewed. Vitreous/anterior chamber angle irons (cases 1 and 3) were misdiagnosed initially and discovered later. In case 2, the retina-incarcerated iron was long ignored. Exceptionally in case 4, the iron was encapsulated by using optical coherence tomography (OCT). Preoperatively, in cases 1 and 4, the injured eye's vision, electro-oculogram, and electroretinogram were reduced compared with the other eye. In three cases, field defects were relevant to their iron locations. Postremoval, iron-impaired retinal functions didn't obviously improve. Early iron removal seems vital. OCT identified iron encapsulation, ameliorating iron toxicity. Consistently, field defect in case 4 was nonprogressive.
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Autologous washed red blood cells were injected weekly over a period of three to six months into the cisterna magna of adult New Zealand white rabbits. After three months, the surface of the brain stem, cerebellum, and piriform cortex showed a distinct brown color, and staining of the gross specimens for iron produced an intense blue color which extended for a distance of 1-2 mm into the brain parenchyma. Enhanced iron stains of vibratome sections revealed the accumulation of reaction product in microglia and Bergmann glia of the cerebellar cortex, and in microglia and astrocytes of the piriform cortex. Ferritin immunocytochemistry revealed reaction product in cerebellar microglia and Bergmann glia which strongly resembled that obtained by the enhanced iron stain. In the piriform cortex, only microglia were reactive with anti-ferritin. Electron microscopy confirmed the accumulation of electron-dense ferritin granules only in the cytoplasm of microglia. Bergmann glia in the cerebellum and astrocytic processes in the piriform cortex were replete with intermediate filaments and contained an excess of glycogen. After six months, small granules of hemosiderin began to appear in cerebellar and piriform cortices. The observations support that the sequence of conversion of hemoglobin to ferritin and hemosiderin occurs in brain as in other organs.
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