Optic nerve compression by extramedullary hematopoietic tissue in a patient suffering from beta-thalassemia intermedia.

We carried out an encephalic magnetic resonance (MR) study in a patient with thalassemia intermedia who complained about change of the visual acuity and of the visual field. Narrowing of the optical canal was present and it was related to the compression of hemopoietic tissue masses. We found a clear relationship between the elderly age, the irregular transfusions, and the optic neuropathy. RMN screening of patients w ith thalassemia intermedia should be mandatory if changes in visual function occur.

Ocular findings in beta-thalassemia.

Eye examination was performed in a series of 53 patients whose mean age was 19.5 years (range from 11 to 25 years), affected from Cooley's disease, in treatment with transfusions and desferrioxamine in subcutaneous infusion. The most frequent ocular change was fundus mottling appearance like "leopard skin" (15%). We found also lens opacity (11%), drusen (7%), retinal venous tortuosity (5%), without impairment of visual acuity. The pathogenic factors of the ocular change are related to abnormality of iron metabolism. These results suggest that the involvement of desferrioxamine to remove iron from the eyeball is relatively small.

Depletion of trace elements and acute ocular toxicity induced by desferrioxamine in patients with thalassaemia.

High doses of intravenous desferrioxamine infused over a short period of time induce a large faecal and urinary iron excretion but also produce retinal abnormalities that are characterised by decreased amplitude on electroretinography and defective dark adaptation. This regimen also results in high faecal iron, zinc, and copper excretion, and reduced granulocyte zinc concentrations and alkaline phosphatase activity. The retinal abnormalities may be related to the zinc and copper deficiency and/or iron depletion 'per se' which interferes negatively with critical iron dependent enzymes.

Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I.

We report a case of GMI gangliosidosis type I with cherry-red spot, optic atrophy, and corneal cloudings. The diagnosis was confirmed by the deficiency of beta-galactosidase enzyme in leucocytes and in urine.

[Opsoclonic encephalopathy in childhood (Kinsbourne syndrome)]. / L'encefalopatia opsoclonica nell'infanzia (sindrome di Kinsbourne).

Kinsbourne's syndrome (ataxia--opsoclonus--myoclonus) is described. The characteristics of this syndrome are: infections of the upper respiratory tract and enteric system and behavioural disturbances leading to the typical symptomatological triad. Various tests were carried out to determine the presence of neuroblastoma which is often associated (46%) to this syndrome. These tests resulted negative. Differential diagnosis was considered in relation to other conditions which present a characteristic symptomatology similar to Kinsbourne's syndrome. Synthetic ACTH (Synacthen) treatment produced a regression of the clinical symptoms. Based on the examinations carried out, which always resulted negative even after 36 months, and on the drug dependence, the present case was diagnosed as primitive opsoclonus.

The relationship between glucose-6-phosphate dehydrogenase deficiency and cataracts in Sardinia. An epidemiological and biochemical study.

The Italian island of Sardina occupies an important position on the map of glucose-6-phosphate dehydrogenase (G6PD)-deficiency distribution throughout the world, since in this region the condition is particularly frequent and severe (erythrocytes show only 0-7% of G6PD normal activity, while people result affect up to 35% depending on the district). In order to investigate the relationship between the deficiency of G6PD in erythrocytes and in lens, and cataractogenesis, we studied 2125 idiopathic cataractous and non-cataractous subjects, both G6PD-deficient and normal, males and females. Parameters investigated included incidence, distribution and type of cataracts, age at the moment of the first observation, geographical provenance, and G6PD activity in erythrocytes. Moreover, G6PD activity and glutathione (GSSG)-reducing activity was assessed in cataractous lenses obtained from deficient and normal individuals. G6PD deficiency was found to be significantly more frequent in males of the age-group 40-49 years (P = 0.025), while the frequency of G6PD deficiency was decisively lower in the older age-groups. In females, mainly heterozygotes, no evidence of such a relation was found. Cataractous lenses obtained from male patients with no G6PD activity in erythrocytes showed undetectable levels of G6PD activity, and lowered, but not extinguished, levels of GSSG-reducing activity. Cataractous lenses from heterozygous females showed intermediate levels of G6PD activity and GSSG-reducing activity. A preliminary study of 182 diabetic, G6PD-deficient and non-deficient subjects, failed to demonstrate that Sardinian variants of G6PD deficiency provide protection against cataract formation in diabetic patients.

Increased incidence of cataracts in male subjects deficient in glucose-6-phosphate dehydrogenase.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency in RBCs was found significantly more frequently in 210 male cataractous patients than in 672 control subjects of Sardinian origin. The frequency of the deficiency was increasingly higher in presenile cataracts. In the G6PD-deficient group, the incidence of cortical and total cataracts was also increased. It is suggested that decrease of the G6PD activity in the lens, which accompanies its deficiency in the erythrocyte, might play a role in the cataracto-genesis of these patients. Moreover, G6PD deficiency should be added to other conditions, such as the galactosemic states and riboflavin deficiency, where cataracts represent a sensitive indicator of metabolic abnormalities of the RBC.

Vitreoretinal hemorrhages after ingestion of fava beans in a G-6-PD-deficient subject.

A case of vitreo retinal hemorrhages following a hemolytic crisis by fava beans in a G-6-DP-deficient patient is reported. Intravascular coagulation due to thromboplastin-like substances liberated by the diseased RBC could be the cause. The possibility of vitreoretinal hemorrhages of this nature in young subjects from the areas where G-6-PD deficiency is endemic is stressed.