Subject(s)
Evoked Potentials/physiology , Familial Mediterranean Fever/physiopathology , Hereditary Central Nervous System Demyelinating Diseases/physiopathology , Adolescent , Adult , Female , Humans , Magnetic Resonance Imaging/methods , Male , Middle Aged , Neurologic Examination , Random AllocationSubject(s)
Hydrocephalus/pathology , Vision, Ocular/physiology , Visual Cortex/pathology , Visual Cortex/physiology , Adult , Humans , MaleABSTRACT
PURPOSE: To define the prevalence of a panel of mitochondrial DNA (mtDNA) mutations associated with Leber's hereditary optic neuropathy (LHON) in the Turkish LHON population. LHON-associated mtDNA mutations have been found in LHON patients from around the world, but the Turkish LHON population has not been studied. METHODS: Thirty-two Turkish patients were defined clinically as having LHON on the basis of painless, subacute, bilateral optic neuropathy and the exclusion of other causes of subacute optic neuropathy. mtDNA was extracted from blood of the 32 probands and assayed for a panel of primary and secondary LHON-associated mtDNA mutations by polymerase chain reaction (PCR)-based methods. We studied three well-known LHON-associated primary mutations (at nucleotide positions 11778, 3460 and 14484) and one common secondary mutation (at nucleotide 15257) in all 32 probands. In addition to these mutations, 18 of the 32 probands were tested for the Complex IV, COX III gene, LHON associated 9804 and 9438 mutations and secondary LHON mutations at nucleotide positions 3394, 4160, 4216, 4917, 5244, 7444, 7706, 13708, 13730 and 15812. RESULTS: Among the 32 probands tested for four common LHON mutations, 3 carried the 14484 mutation, 1 carried the 11778 mutation, 1 carried the 3460 mutation and 1 carried the 15257 mutation. Among the 18 LHON patients who tested for additional mutations, 1 proband harboured the 9804 mutation and 4 carried the secondary mutations at nucleotide positions 4216, 4917 and 13708. CONCLUSION: The results of mtDNA analysis of the Turkish LHON patients appear to be different from those of previous reports.
Subject(s)
DNA, Mitochondrial/genetics , Optic Atrophies, Hereditary/genetics , Point Mutation , Adolescent , Adult , Child , DNA Mutational Analysis/methods , Electron Transport Complex IV/genetics , Female , Humans , Male , Middle Aged , Optic Atrophies, Hereditary/physiopathology , Turkey , Visual Acuity , Visual FieldsABSTRACT
A 53-year-old woman with symptoms of hypopituitarism and ophthalmoplegia was diagnosed as having idiopathic granulomatous hypophysitis and later developed bilateral optic neuritis. She responded well to steroid treatment. Granulomatous hypophysitis is a rare entity, and this is the first reported case associated with optic neuritis.
Subject(s)
Granuloma/diagnosis , Meningitis/diagnosis , Optic Neuritis/diagnosis , Pituitary Diseases/diagnosis , Female , Glucocorticoids/therapeutic use , Granuloma/drug therapy , Humans , Hypopituitarism/diagnosis , Hypopituitarism/drug therapy , Magnetic Resonance Imaging , Meningitis/drug therapy , Methylprednisolone/therapeutic use , Middle Aged , Ophthalmoplegia/diagnosis , Ophthalmoplegia/drug therapy , Optic Neuritis/drug therapy , Pituitary Diseases/drug therapy , Visual AcuityABSTRACT
Three patients with Leber's hereditary optic neuropathy (LHON) showed spontaneous improvement in visual acuities after months of legal blindness. Two male patients with bilateral subacute visual loss were 14 years of age at presentation. The first male patient had a mitochondrial DNA mutation at nucleotide position 11778. The second male patient was found to be negative for the designated primary mutations (11778, 14484, 3460) and two of the secondary mutations (15257, 9804). The third patient was a 20-year-old female who presented with bilateral optic atrophy. She had been diagnosed as LHON and was found positive for the 3460 mutation when she was 15. These patients' pattern of visual recovery by developing small islands of normal vision within a central scotoma is characteristic in such rare cases of LHON.
Subject(s)
Blindness/etiology , Blindness/physiopathology , Optic Atrophy, Hereditary, Leber/complications , Visual Acuity , Adolescent , Adult , Base Sequence/genetics , DNA, Mitochondrial/genetics , Female , Humans , Male , Mutation , Optic Atrophy, Hereditary, Leber/genetics , Recovery of Function , Scotoma/etiology , Scotoma/physiopathology , Vision, Binocular , Visual FieldsABSTRACT
The authors present the cases of two patients with isolated inferior rectus muscle paresis presumed to be caused by paramedian thalamopeduncular infarction that involved supranuclear descending pathways, just before the inferior rectus subnucleus in one patient, and just before subnucleus or fascicular fibers in the other patient. Both patients had no other associated neurologic dysfunction. The lesions that cause isolated inferior rectus palsy in these patients are documented by magnetic resonance findings. Although vascular ischemic lesions as the cause of isolated inferior rectus palsy were reported previously, to the authors' knowledge, it has not been demonstrated radiologically.
Subject(s)
Brain Infarction/complications , Ophthalmoplegia/etiology , Thalamic Diseases/complications , Aspirin/therapeutic use , Brain/pathology , Brain Infarction/diagnosis , Brain Infarction/drug therapy , Female , Fibrinolytic Agents/therapeutic use , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Ophthalmoplegia/diagnosis , Ophthalmoplegia/drug therapy , Thalamic Diseases/diagnosis , Thalamic Diseases/drug therapySubject(s)
Adenoma/surgery , Empty Sella Syndrome/diagnosis , Encephalocele/diagnosis , Pituitary Neoplasms/surgery , Postoperative Complications/diagnosis , Adenoma/radiotherapy , Adult , Combined Modality Therapy , Humans , Magnetic Resonance Imaging , Male , Optic Chiasm/pathology , Optic Nerve/pathology , Pituitary Irradiation , Pituitary Neoplasms/radiotherapy , Radiotherapy, Adjuvant , Sella Turcica/pathologySubject(s)
Dyslexia, Acquired/etiology , Multiple Sclerosis/complications , Adult , Agraphia/etiology , Brain/pathology , Dyslexia, Acquired/pathology , Dyslexia, Acquired/physiopathology , Humans , Magnetic Resonance Imaging , Male , Multiple Sclerosis/drug therapy , Multiple Sclerosis/pathology , Multiple Sclerosis/physiopathologyABSTRACT
A total of 72 EEGs from 57 patients with SSPE were studied. The EEG studies in SSPE revealed periodic high amplitude complexes in all except one. Besides periodic complexes, we found several atypical EEG findings including frontal rhythmic delta activity in intervals between periodic complexes, electrodecremental periods following EEG complexes, diffuse sharp waves and sharp-and-slow-wave complexes over frontal regions, and focal abnormalities, such as sharp wave and sharp and slow wave foci, which have been rarely reported previously. We also described a new finding characterized by high amplitude generalized rhythmic sharp wave activity following periodic complexes in one patient.
