Familial cavernous angiomas.

Cavernous angiomas are rare, surgically remediable vascular malformations of the CNS that may be characterized by hemorrhage, seizures, or focal neurologic deficits. Three families with cavernous angiomas have been described, and we report two more. In the first, the mother died suddenly with headache. A pontine cavernous angioma was found at autopsy in one son. His brother has similar pontine signs and a radiographically proved pontine mass. The brother's son has seizures and a calcified cerebral lesion. In the second family, the father had a cavernous angioma excised from the caudale. One of the daughters had a hemorrhagic mass removed from the spinal cord. Another daughter has seizures and a temporal lobe vascular lesion proved angiographically. Awareness of the possibility of familial involvement may aid in diagnosis of cavernous angioma.

Diabetic oculomotor paresis with pupil fixed to light.

The pupillary near response should always be evaluated when the light response is defective. We present a case of diabetic third-nerve paresis with concomitant light-near dissociation. Without careful evaluation of the near response, angiography would have been indicated to rule out a posterior communicating artery aneurysm. Pharmacologic and slit lamp testing can be used to verify light-near dissociation.

Positive occipital sharp transients of sleep in the blind.

Positive occipital sharp transients of sleep (POSTS) were evaluated in 23 legally blind subjects. Only those subjects with severe visual field defects but normal or near normal visual acuity showed this activity. Nineteen subjects with visual acuity of 20/200 or worse failed to exhibit these potentials, while a control group matched for age showed POST in 79 percent of cases. The production of POSTS appears to depend on the integrity of macular function and normal central visual acuity.

Primary empty sella syndrome with visual field defects.

A patient with an enlarged, asymmetric sella turcica and visual field defects suggestive of a pituitary or parasellar tumor underwent extensive roentgenographic and pituitary function studies. No abnormalities in pituitary luteinizing hormone, follicle-stimulating hormone, thyroid-stimulating hormone, ACTH, prolactin or vasopressin secretion were detected. Growth hormone secretion was provoked by arginine infusion but not by hypoglycemia. Pneumoencephalography revealed air in the sella turcica, and no evidence of tumor. Thus, an enlarged sella turcica in a patient with visual field defects but normal pituitary function may suggest the presence of an "empty sella syndrome."

Color perimetry.

Seven subjects were studied to determine the reproducibility of color isopters utilizing a Tubingen perimeter with targets equated for radiant energy and separate for heterochromatic flicker luminance. Achromatic threshold recognition of targets for equal luminance gave smaller isopters with longer wavelengths (red). Color recognition thresholds, on the other hand, showed large blue, midzone red and green, and small yellow isopters. The target recognition and color recognition thresholds for equal energy targets gave smaller red isopters. The data support Traquair's contention that all color isopters would be equivalent if hue, saturation, and intensity were equated. Clinically, the detection of subtle peripheral and central field defects might reside in the use of appropriately selected equally bright-colored targets.

MR of extraocular muscles in chronic progressive external ophthalmoplegia.

PURPOSE: Our goal was to determine whether the extraocular muscles in patients with chronic progressive external ophthalmoplegia (CPEO) could be distinguished from those of age-matched control subjects by MR imaging. METHODS: Nine patients with CPEO and eight age-matched healthy control subjects were studied. The extraocular muscles of eight of the patients (16 eyes) and all the control subjects (16 eyes) were measured digitally. Images consisted of 1.5-mm contiguous sections acquired using a volume (three-dimensional) gradient-echo acquisition. In all, measurements were performed on 11 interpolated 1.0-mm coronal sections, five on each side of the muscle center. Only the medial, inferior, and lateral rectus muscles were evaluated. The superior rectus was omitted to avoid averaging problems with the superior ophthalmic vein and levator palpebrae muscle. The 11 sections were summed to obtain a volume measurement of the central portion of each muscle. RESULTS: The digitally measured extraocular muscles in the patients with CPEO had statistically significantly smaller volumes than those of the control subjects. The average muscle volumes for the patients with CPEO were 215 mm3 for the medial rectus, 202 mm3 for the inferior rectus, and 269 mm3 for the lateral rectus. The average extraocular muscle volumes for the control subjects were 366 mm3 for the medial rectus, 365 mm3 for the inferior rectus, and 425 mm3 for the lateral rectus. CONCLUSION: MR imaging can show small extraocular muscles in patients with CPEO, which may help to distinguish this disorder from other entities. Since denervated extraocular muscles do not readily atrophy, this MR sign would support a myogenic pathologic substrate for CPEO. Variation in the degree of extraocular muscle atrophy may simply reflect the length of time the mitochondrial defect and ophthalmoplegia have been present.

Optic neuropathy associated with laser in situ keratomileusis.

PURPOSE: To report 4 cases of optic neuropathy following laser in situ keratomileusis (LASIK). SETTING: Tertiary Care ophthalmic practices. METHODS: In this retrospective observational case series, 4 patients who developed acute visual loss following LASIK are reported. All had clinical evidence of optic neuropathy. Two had optic disc edema and 2 had normal appearing optic discs initially. None of the patients experienced significant visual recovery, and all developed optic atrophy in the affected eye. RESULTS: All patients had evaluations for alternative etiologies of their optic neuropathy, with negative results. All patients were therefore presumed to have experienced an ischemic optic neuropathy following LASIK. CONCLUSIONS: Patients who have LASIK may experience an acute anterior or retrobulbar optic neuropathy. The etiology is unknown but may be related to the marked increase in intraocular pressure that occurs during a portion of the procedure.

Medical treatment of nystagmus and ocular motor disorders.

An increased compendium of drugs useful in ocular motor system dysfunction has expanded our capacity to treat selected ocular motility disorders. Adjunctive therapeutic modes (e.g., Fresnel prisms and orthoptic exercises) can also be beneficial. PAN and see-saw nystagmus can be treated with baclofen. Downbeat nystagmus may respond to clonazepam therapy, and prisms may help if the nystagmus can be modified with convergence. Congenital nystagmus may respond minimally to drugs (e.g., baclofen), but prisms or surgical procedures, or both, are still the primary treatment modalities. Innovar may be helpful in patients with severe, incapacitating vestibular disorders, and scopolamine alone or in combination with promethazine may be beneficial in patients with milder ambulatory acute peripheral vestibular disorders. Benign positional vertigo is best treated initially with positional exercises before drug therapy is instituted. Opsoclonus and ocular flutter have been treated successfully with corticosteroids, propranolol, and clonazepam, while microflutter, an extremely rare disorder, can resolve with baclofen. Although therapy with carbamazepine, 5-hydroxtryptophan, and scopolamine has been useful in selected patients with ocular palatal myoclonus, most do not respond to drug treatment. It is not usually necessary to treat voluntary nystagmus, but Fresnel prism lenses should be remembered in refractory patients. Potentially reversible and pseudointernuclear ophthalmoplegias also were discussed. Orthoptic exercises can be beneficial in posttraumatic internuclear ophthalmoplegia. Selected supranuclear palsies can be improved completely with the proper drug regimen. Lastly, superior oblique myokymia can be treated successfully with carbamazepine, with tight surveillance for possible adverse side effects. Descriptive phenomenology and pathophysiological localization must be correlated with brain stem neurochemistry and neuropharmacology to medically treat additional ocular motor system disorders.

Abnormal ocular motility with brainstem and cerebellar disorders.

The disorders of ocular motility seen in association with brainstem or cerebellar disorders may point to rather specific anatomical or pathological correlations. Pontine gaze palsy reflects involvement of the pontine paramedian reticular formation. Internuclear ophthalmoplegia signifies a lesion in the medial longitudinal fasciculus. Skew deviation may result from a lesion anywhere in the posterior fossa. Ocular bobbing typically results from a pontine lesion. The Sylvian aqueduct syndrome is characteristic of involvement in the upper midbrain-pretectal region, usually a pinealoma. Cerebellar lesions may be manifested by gaze paresis, skew deviation, disturbances of saccadic or smooth pursuit movements, ocular myoclonus, or several characteristic forms of nystagmus. Familiarity with these disorders may be of great help to the physician dealing with a patient with a possible posterior fossa lesion.

Paresis of cranial nerves III, IV, and VI: clinical manifestation and differential diagnosis.

Successful identification of the cranial nerve and ocular muscle responsible for a subjective complaint of diplopia requires an evaluation of the type and character of the double vision and not infrequently the use of a red glass or Maddox rod, especially in incomplete and subtle cases. An isolated third nerve lesion is most commonly seen with a supraclinoid aneurysm (pupil dilated and fixed), vascular disease (pupil spared), and trauma. Mild frontal head trauma and vascular disease are the most common etiologies associated with an isolated fourth nerve paresis. Tumor, vascular disease and trauma should be prime considerations when a patient presents with an isolated sixth nerve paresis. A child's diagnostic possibilities will differ from the adult: third nerve (congenital), fourth nerve (congenital), and sixth nerve (brainstem glioma, postviral or inflammatory). Finally, myasthenia gravis can readily mask or mimic an isolated or mixed cranial nerve palsy. A Tensilon test is always indicated in unexplained diplopia with ophthalmoplegia and normal pupils.

Brainstem abscess and the syndrome of acute tegmental encephalitis.

A 63-year-old man developed the acute onset and rapid progression of signs of lower brainstem dysfunction accompanied by a sterile cerebrospinal fluid containing moderate pleocytosis. Autopsy examination disclosed diffuse acute bacterial inflammation of the brainstem tegmentum. The findings in 55 additional cases of brainstem bacterial infections are reviewed and discussed with respect to differential diagnosis and potential treatment.

Divergent-convergent eye movements and transient eyelid opening associated with an EEG burst-suppression pattern.

A neonate with an intraventricular hemorrhage developed transient eyelid opening and divergent-convergent eye movements associated with an EEG burst-suppression pattern. These ocular movements may represent a brainstem release phenomenon.

Acute posterior multifocal placoid pigment epitheliopathy and late-onset meningo-encephalitis.

A steroid-sensitive meningo-encephalopathy developed in a healthy young woman 5 1/2 years after the occurrence of acute posterior multifocal placoid pigment epitheliopathy (APMPPE). The association of APMPPE with systemic and neurologic inflammatory disorders has been well documented, but to the knowledge of the authors, this is the first report of an APMPPE patient in which there was delayed onset of the meningo-encephalopathy. The association with dermal vasculitis, nephropathy, meningo-encephalitis, cerebral vasculitis, and thyroiditis suggests that APMPPE may be one manifestation of a diffuse systemic inflammatory condition.

Exophthalmos in systemic lupus erythematosus.

In systemic lupus erythematosus (SLE) exophthalmos is distinctly rare. This article describes the first patients with SLE in whom exophthalmos was preceded by pseudotumor cerebri. The apparent lack of resolution of the exophthalmos with corticosteroids in our case emphasizes the potential need for therapeutic alternatives such as immunosuppressive agents, orbital irradiation, and/or plasmapheresis.

Lymphocytaplasmapheresis in Devic's syndrome.

A pregnant 26-year-old woman with Devic's syndrome manifesting as paraplegia and visual loss was treated with multiple courses of lymphocytaplasmapheresis. Clinical improvement was temporally related to the lymphocytaplasmapheresis. She relapsed when treatment was stopped and improved with reinstitution of therapy. Thereafter, further treatments were not required and she delivered a normal infant.