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Biomedical subjects

F Meire

Publications and source records attributed to F Meire.

5 recordsLinked to original sources

Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families.

Leber's hereditary optic neuropathy (LHON) is a genetic maternally transmitted disorder characterised by sudden bilateral loss of vision. The discovery of at least one mitochondrial DNA mutation associated with the disease has provided the basis for a molecular diagnosis in about 50% of families with LHON. We present a brief review of the clinical and molecular genetic aspects of LHON along with our results in 13 patients.

Adolescent

Persisting chloroquine-induced myasthenia?

A middle-age woman had intermittently had chloroquine as an antimalarial agent for 21 years. Although she had discontinued the drug for more than 10 years due to occurrence of a retinopathy, mild ocular myasthenic symptoms persisted. Cardiac conduction disturbances were detected as well. A quadriceps muscle biopsy revealed mild neurogenic changes and interstitial lymphorrhages. The decremental response after repetitive stimulation was reversed by edrophonium administration. The history suggests that the persisting myasthenia might have been caused by chloroquine intake.

Chloroquine

Optic atrophy as a complication of neonatal alloimmune thrombocytopenia.

A five-month-old girl with optic atrophy presented porencephaly on computerized tomography of the brain. Diffuse intracranial hemorrhages occurred in the neonatal period as a result of thrombocytopenia. As the maternal platelets were negative for the platelet antigens, the diagnosis of neonatal alloimmune thrombocytopenia was made. The present case shows that optic atrophy as a single finding can lead to the diagnosis of a rare disorder.

Autoimmune Diseases