Leber's disease and dystonia: a mitochondrial disease.

We studied a kindred in which 8 members had the neuroretinopathy of Leber's disease; 14 had a progressive, generalized dystonia attributed to striatal degeneration; and 1 had both disorders. The mode of inheritance was compatible with maternal transmission. This neurologic disorder may be a mitochondrial disease.

Ischemic optic neuropathy in cavernous sinus thrombosis.

Visual loss is uncommon in thrombosis of the cavernous sinus. A patient observed closely in the acute stages developed high introcular and intraorbital pressures. Although the retinal vasculature remained patent, total unilateral blindness occurred within 48 hours. To our knowledge this is the first documented case in which ischemic optic neuropathy caused blindness in a patient suffering from cavernous sinus thrombosis.

The early phase in Leber hereditary optic atrophy.

Clinical, ophthalmoscopic, perimetric, and color vision tests and visual evoked responses were recorded in symptomatic and asymptomatic eyes in five members of a family with Leber hereditary optic atrophy. The presymptomatic eyes showed abnormalities in the retinal nerve fiber layer. Optic nerve dysfunction was found before central vision failed. The appearance of degenerating retinal nerve fibers, particularly in the papillomacular bundle, was documented photographically in the weeks after the onset of visual symptoms. Treatment with prednisone and hydroxocobalamin did not reverse or halt serious impairment of vision.

Isolated oculomotor palsy after measles immunization.

A 17-month-old healthy boy had a rapid onset of right oculomotor nerve palsy, and spontaneous recovery after measles immunization. Results of computed tomography scan, skull x-ray, chest x-ray, intravenous pyelogram, and bone marrow examination were all normal. Serum antibody titers showed effective measles immunization.

Occult vascular malformations of the optic chiasm: magnetic resonance imaging diagnosis and surgical laser resection.

Angiographically occult vascular malformations of the optic nerve and chiasm are extremely rare. Before the advent of magnetic resonance imaging (MRI), it was difficult to diagnose these lesions preoperatively. We report MRI scan findings of optic chiasm cavernous angiomas in two patients with chiasmal syndrome. MRI was useful in localizing the vascular malformation and delineating its characteristics, especially chronic hemorrhage. One patient underwent biopsy of the lesion. The other patient underwent complete microsurgical resection of the malformation with the carbon dioxide laser with preservation of vision. Occult vascular malformations of the optic nerve and chiasm may be a more common cause of visual deterioration than previously recognized. The MRI scan is the imaging modality of choice for diagnosing and following these lesions. In certain patients, these vascular malformations may be amenable to complete surgical removal with stabilization or improvement of visual function.

Malignant astrocytoma following radiotherapy of a craniopharyngoima. Case report.

A 9-year-old schoolgirl received 6007 rads to the suprasellar region for craniopharyngioma. Five years later, a malignant astrocytoma developed in the right temporal lobe. We cite clinical and experimental evidence to support our suspicion that the glioma may have been induced by radiation.

Parotid carcinoma and posterior fossa schwannoma following irradiation. Report of a patient treated in infancy for benign ear disease.

A 23-year-old man had received irradiation for a benign ear problem at the age of 1 year. Twenty year later, a malignant left parotid carcinoma and a right jugular foramen schwannoma developed. Earlier reports in the literature suggest that radiation can induce tumors in the head and neck. The localization of both tumors and the histological features of the parotid tumor suggest that they were radiation-induced.

Computerized tomography of the orbits. A report of 196 patients.

The value of orbital CCT scans was studied by grouping the CCT scans of 196 patients into clinical diagnostic categories. In 83% of patients with suspected Graves' ophthalmopathy, CCT confirmed the diagnosis. The CCT scan differentiated patients with Graves' disease from those with orbital pseudotumour or malignancies. The CCT scan was positive in 92% or patients with proven orbital malignancies. In 73% of patients with proptosis of unknown aetiology, and in 56% of patients with ocular motility problems, the CCT scan led to the diagnosis. The CCT scan ruled out orbital mass lesions in cases of optic neuritis, optic atrophy or vascular malformations. The greatest value of the CCT scan was in the localization and determination of the size and shape of various orbital lesions and in the accurate follow-up of those lesions utilizing serial scans.

Cherry-red spot-myoclonus syndrome.

A 21-year-old woman had typical clinical and biochemical findings of the cherry-red spot-myoclonus syndrome. She had 20/50 acuity in each eye, flutter-like ocular oscillations, rebound nystagmus, and transient vertical dissociation. Cherry-red maculas and optic atrophy were present. Although electroretinographic signals were normal, visual evoked potentials were almost absent. Levels of neuraminidase were significantly reduced in cultured ebroblasts from the patient and her parents, while lysosomal inclusions probably containing oligosaccharides were found in her conjunctival fibroblasts.