Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q.

We describe four families with late onset episodic vertical oscillopsia and progressive gait ataxia. Probands presented between the ages of 40 and 64 years with initial symptoms of episodic vertical oscillopsia and interictal downbeat nystagmus. A mild gait ataxia developed over several years. Triggers included physical exertion, alcohol and caffeine. Patients did not respond to acetazolamide. Genetic screening for episodic ataxia types 1 and 2, and spinocerebellar ataxias 1, 2, 3 and 6 were negative. Using ancestral identity by descent analysis and dense single nucleotide polymorphism (SNP) genotyping throughout the genome, an interval of 28.6 cM (approximately 14.2 Mb) on chromosome 13q12.11-q13.3, composed of 1259 SNPs, was shared between affected individuals in two of the four families and highlighted a region of suggestive linkage (LOD >2.7).

Primary position vertical nystagmus and cerebellar ataxia.

Hereditary cerebellar ataxia was evaluated clinically and by electro-oculography in three members of a family. There was no clinical evidence of exttra-cerebellar dysfunction although quantitative eye movement analysis did shown internuclear ophthalmoparesis and slow saccadic velocity suggestive of brainstem dysfunction. In addition, oculomotor examination showed primary position vertical nystagmus in all patients. Other findings were in accord with previous reports of cerebellar-related oculomotor dysfunction.

Familial tapetoretinal degeneration and epilepsy.

Tapetoretinal degeneration is described in two siblings in association with generalized major motor seizures and intellectual impairment. Neither of these patients have the characteristic dysmorphic features or biochemical abnormalities seen in previously described cases, which are reviewed. Inheritance was probably autosomal recessive.

Removal of occipital arteriovenous malformations with sparing of visual fields.

Two patients with occipital lobe arteriovenous malformation (AVM) underwent two-stage resection of their lesions. The intervals between operations were eight and 12 days. Prior to surgery, the patients had normal neuro-ophthalmologic examination results and both experienced a reversible homonymous hemianopsia after the initial, partial resection of the AVM. Frequent seizures with visual hallucinations developed in the early postoperative period, with gradual improvement of the visual field defect. The pattern and duration of visual disturbances and the nature of the visual field defects in each patient had similar characteristics. The second operation with complete resection of the AVMs left normal visual fields.

An unusual cause of hypokalemic muscle weakness.

A 36-year-old woman presented with proximal muscle weakness, cramps, and a serum potassium level of 2.7 mEq/l. During her hospitalization she was noted to use excessive quantities of a snuff preparation containing glycyrrhizinic acid, a potent mineralocorticoid analogue. With discontinuation of this substance, her potassium returned to normal values and her strength improved. This case is submitted as a hypokalemia myopathy induced by snuff dipping.

Diagnostic approaches to pituitary adenomas.

The utility of diagnostic tests for pituitary adenoma was compared in 12 patients. Endocrine and radiologic studies were always abnormal, even when neuro-ophthalmologic tests were normal. In most cases, both tomography of the sella turcica and CT scan revealed a mass in the region of the sella turcica. For more precise definition of suprasellar extension of the mass, metrizamide CT cisternography or tomographic pneumoencephalography with metrizamide provided similar details, although CT cisternography was much more easily done. Angiography provides a means to exclude an aneurysm or vascular malformation, a vascular tumor, or an aberrant course of the internal carotid artery.

Positional vertigo and the cerebellar vermis.

A patient with lower and posterior vermis hematoma presented with truncal ataxia; paroxysmal, positional, downbeating nystagmus; and saccade dysmetria. Drainage of the hematoma resulted in complete resolution of all signs and symptoms.

Anterior ischemic optic neuropathy in Churg-Strauss syndrome.

A patient with a history of chronic rhinitis, sinusitis, and bronchial asthma developed a unilateral anterior ischemic optic neuropathy and a mild sensory motor neuropathy as the initial manifestation of systemic vasculitis. We made a probable diagnosis of Churg-Strauss syndrome. Fluorescein angiography showed delayed choroidal perfusion in both eyes. Marked eosinophilia, increased sedimentation rate, and elevated perinuclear anti-neutrophil cytoplasmic antibody and anti-myeloperoxidase antibody titers were the main laboratory abnormalities that supported this diagnosis. Therapy with high-dose methylprednisolone and cyclophosphamide may have preserved vision in the better seeing eye, improved its choroidal circulation, and reversed the laboratory abnormalities except for a mild persistent eosinophilia. The neuropathy is gradually improving.

Pathologic findings in a steroid-responsive optic nerve infarct in giant-cell arteritis.

OBJECTIVE: To investigate the pathophysiologic mechanism of optic nerve infarction in giant-cell arteritis (GCA). BACKGROUND: Previous pathologic reports of optic nerve infarction in GCA involved patients who were blind at the time of death. The optic nerve infarcts were primarily retrolaminar in localization. Simultaneous short ciliary and ophthalmic artery vasculitis was found in all patients. METHODS: Clinical neurologic and ophthalmologic examination, temporal artery biopsy, and neuroimaging tests were performed in a patient with an anterior ischemic optic neuropathy secondary to GCA. Pathologic examination of the viscera, eye, and brain were performed at autopsy 1 month later. RESULTS: A prelaminar/retrolaminar infarct was found in this patient. Subsiding vasculitis was limited to the short ciliary arteries, sparing the central retinal, pial, and ophthalmic arteries. CONCLUSIONS: The authors believe that the visual improvement observed in this patient was the result of preserved, anterior optic nerve collateral circulation, as well as the neuroprotective and anti-inflammatory effect of the corticosteroids.

Incapacitating peripheral neuropathy as a manifestation of chronic graft-versus-host disease.

A 35-year-old caucasian man developed mild and transient signs of chronic graft-versus-host disease (GVHD) 5 months after bone marrow transplantation. At 16 months he presented with painful cramps in hands, feet, and truncal muscles. Electrophysiological studies revealed generalized sensory neuropathy. There was occasional fasciculation and high frequency motor units during involuntary muscle contractions, and agonist/antagonist cocontractions of peripheral muscle groups (non-continuous). A sural nerve biopsy showed Schwann cells and macrophages with myelin debris, and Schwann cell stacks with collagen pockets. The patient's symptoms responded to treatment with glucocorticoids and azathioprine. We propose that this patient's incapacitating polyneuropathy was a major manifestation of chronic GVHD, suggesting that the peripheral and possibly central nervous systems can be targets of chronic GVHD.

Reversible visual loss in pseudotumor cerebri.

A patient with chronic pseudotumor cerebri experienced precipitous visual loss as a result of a central retinal vein occlusion associated with an intracranial pressure elevation of 520 mm of CSF and a fall of mean systemic arterial pressure. Optic nerve sheath decompression was associated with substantial improvement of vision.

An unusual case of central nervous system vasculitis.

A patient with CNS vasculitis limited to small vessels is described. Initial spinal cord involvement with paraparesis was followed by multifocal cerebral and cerebellar involvement, depicted by magnetic resonance imaging (MRI). She also had recurrent cerebral bleeding. A diagnosis of vasculitis was made by cerebral biopsy. Immunosuppressive therapy resulted in clinical improvement and resolution of the MRI abnormalities.

Orbital apex syndrome secondary to herpes zoster ophthalmicus.

Two women, one with Hodgkin's disease and the other with no malignancy, developed herpes zoster with optic neuropathy and total ophthalmoplegia. Both patients developed an associated mild meningoencephalitis with a predominantly lymphocytic spinal fluid reaction that cleared spontaneously. The patient with Hodgkin's disease suffered a protracted course of the disease and developed a secondary bacterial endophthalmitis that necessitated an envisceration of the left eye. The patient without evidence of immunologic deficit recovered quickly with administration of corticosteroids.

Optic neuritis and systemic lymphoma.

A 26-year-old man with stage IV poorly differentiated lymphocytic lymphoma complained of visual loss of two weeks' duration. Examination revealed visual acuity of light perception in the right eye secondary to optic neuritis and other tests revealed the presence of lymphomatous leptomeningeal infiltration. Combined treatment with intrathecal methotrexate, prednisone, and whole brain radiation resulted in rapid long-lasting recovery of visual function of the right eye. The cerebrospinal fluid contained a large amount of thymus-derived lymphocytes and the subsequent clinical course observed with characteristic of T-cell or malignant lymphoblastic lymphoma.

Hemianopsia from occipital lobe abscess after dental care.

We treated four patients who developed a homonymous hemianopsia from a bacterial abscess in the occipital lobe of the brain. All four patients were treated successfully by surgical drainage of the abscess and administration of parenteral antibiotics for at least six weeks. Despite cure of the brain abscess, each patient was left with a permanent residual homonymous visual field defect. Cultures from the abscess fluid in three of the four patients grew oral flora. Moreover, each patient had a history of dental care two to four weeks before the onset of visual symptoms. A history of recent dental treatment in a patient with a new hemianoptic field defect should alert the ophthalmologist to the possibility of a bacterial abscess in the occipital lobe.

MR of oculomotor nerve palsy.

PURPOSE: To assess the utility of MR in third cranial nerve palsy. METHODS: We reviewed precontrast and postcontrast MR of 50 patients with third cranial nerve palsy. RESULTS: MR demonstrated an appropriate lesion in 32 cases. Of these patients, 6 had brain stem lesions and 15 had involvement of the nerve in the cavernous sinus; lesions of the cisternal segment of the nerve were present in 11 patients, with enhancement of this segment observed in 9 patients. An inflammatory or infiltrative source of the palsy was indicated in 19 of these 32 cases. Of 7 patients with pupillary involvement suggestive clinically of a compressive lesion, 4 demonstrated thickening and enhancement consistent with an infiltrative lesion of the nerve. Eighteen patients with pupil-sparing third cranial nerve palsies and a history of diabetes or vascular disease had normal MR findings, with no enhancement of the third cranial nerve observed. CONCLUSIONS: Patients who do not have a history of diabetes or hypertension and in whom a complete or incomplete third cranial nerve palsy develops with or without pupil sparing should undergo MR imaging initially (unless there are clear symptoms or signs of subarachnoid hemorrhage) to exclude the presence of an infiltrative lesion or intraparenchymal process. Patients who have a history of vascular disease and a clinical presentation that is suggestive of an ischemic event may be observed initially, but should undergo imaging if improvement does not occur within 3 months.

Isolated facial nerve palsy from metastasis to the temporal bone: report of two cases and a review of the literature.

Isolated facial nerve paralysis is rarely the result of metastasis. We describe two cases (the fourth and fifth cases ever documented) with facial nerve palsy secondary to metastatic adenocarcinoma to the temporal bone. We also review the pathogenesis and presentation of facial nerve paralysis from metastasis and discuss a possible treatment strategy.

Ocular and endocrine function in patients with pituitary tumors. Operative results following transnasal, transsphenoidal approach with marsupialization of the sella turcica.

Thirty-one patients with pituitary tumors underwent transphenoidal operation via a unilateral, trans-nasal technique preserving the nasal septum and marsupializing the sella turcica unless CSF leak could be demonstrated. These two modifications neither detracted from exposure nor predisposed to delayed complications and significantly facilitated the procedure.

Graphical analysis of two-dimensional eye movements.

Horizontal and vertical monocular movements were recorded by electronystagmography using silver plate electrodes or by the magnetic search coil system. Both horizontal and vertical monocular movements were simultaneously measured with the use of a computer-controlled testing system. The data was composed by the computer and presented as a two-dimensional graphical plot of the actual eye movement trajectories. There are three factors in eye movements, that is, slow component of eye movements--pursuit; quick component--saccades; and fixation. The two-dimensional plot of pursuit monocular movements in normal subjects indicated that the eye did not move in a perfectly straight horizontal or vertical line. The plot appeared to be a series of smooth and snaky movements. Saccades showed quick jumping movement to reach a target and fixation. During fixation, eye position was not restricted to the point of a target and the eye moved around the target. Disturbance of pursuit is known as saccadic or ataxic. A two-dimensional plot of pathological pursuit showed a series of smaller saccades and fixation. Disturbance of saccades is shown as overshoot or undershoot. Also, a two-dimensional plot of pathological saccades was made of smaller saccades and of fixation. Failure of fixation showed larger and more irregular movements around the target. Thus, the two-dimensional plot of monocular movements clearly showed normal or pathological pursuit, saccades, and fixation.

[Kernohan-Woltman notch phenomenon secondary to a cranial epidural hematoma]. / Fenómeno de Kernohan-Woltman secundario a un hematoma epidural craneal.

Kernohan-Woltman notch phenomenon is a paradoxical neurological manifestation which involves a motor deficit on the same side as the primary brain injury. It is produced mainly by acute or chronic subdural hematomas, and less frequently by post-traumatic epidural ones. It should be taken into consideration in cases of ipsilateral motor deficit, as it may lead to surgical procedures being performed on the incorrect side. We report the case of a 40 year old man who sustained a major head injury which was followed by a decreased level of consciousness and anisocoria. Computed tomography of the brain revealed a frontal and parietal epidural hematoma with right midline shift and uncal herniation. Craniotomy and drainage of the hematoma was performed, and on the sixth day after surgery it was observed that the patient had a brachio-crural right hemiparesis. Magnetic resonance imaging showed an ischemic area on the left capsule and cerebral peduncle consistent with the diagnosis of Kernohan-Woltman notch phenomenon.