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To my knowledge, no general study of complete ophthalmoplegia is available. This study was performed to determine the seats and causes of bilateral ocular paralysis. The personal records of 13 440 neurology and neurosurgery inpatients were reviewed. Eighteen (58%) of 31 patients had Fisher syndrome (13 cases) or Guillain-Barré syndrome (5 cases). Four cases resulted from midbrain infarction, 3 from myasthenia, and 1 each from pituitary apoplexy, skull base metastasis, botulism, mucormycosis, phenytoin toxicity, and trauma. Many conditions produce complete ophthalmoplegia on rare occasions, but Fisher syndrome, which paralyzes the eyes in nearly one third of cases, was by far the commonest cause.

Background: Mutations in polymerase gamma cause progressive external ophthalmoplegia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Extrapyramidal signs have been rarely described., Objective: To describe a family with a novel polymerase gamma mutation and autosomal dominant transmission of progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism., Design: Case report., Patients: The proband, a 49-year-old woman with incipient parkinsonism, and her 59-year-old brother with overt parkinsonian features., Main Outcome Measures: Mutation in the proband by sequencing the polymerase gamma gene and in affected relatives by restriction fragment length polymorphism analysis., Results: We found multiple mitochondrial DNA deletions in the proband's muscle and a novel missense mutation in the polymerase gamma gene (A2492G) in the proband and in her affected siblings., Conclusion: Parkinsonism was a prominent clinical feature in this family with autosomal dominant ophthalmoplegia, multiple mitochondrial DNA deletions, and a novel mutation in the polymerase gamma gene.

Objective: To provide clinicoanatomical correlation for a small pontine tegmental ischemic stroke producing the one and one-half syndrome associated with supranuclear facial weakness., Design: Case report., Setting: Tertiary care center., Patient: A 70-year-old man developed left-sided facial weakness sparing the forehead, a left internuclear ophthalmoplegia, and a complete left horizontal gaze palsy immediately after percutaneous transluminal coronary angioplasty. Magnetic resonance imaging demonstrated a small lesion in the left paramedian aspect of the dorsal pontine tegmentum., Main Outcome and Results: Electromyographic findings were consistent with supranuclear facial involvement. The patient had nearly complete recovery after 1 year., Conclusions: To our knowledge, this is the first report of supranuclear facial weakness in association with the one and one-half syndrome. The location of the lesion provides evidence of the existence of corticofugal fibers that extend to the facial nucleus in the dorsal paramedian pontine tegmentum.

We describe seven patients with clinical evidence of oculopharyngeal muscular dystrophy. Four of these patients were members of the same Italian-American family. The age at onset was after the fourth decade in all patients. All seven patients had extraocular muscle involvement, and six of the seven patients had clinical, electrophysiological, and/or pathological evidence of neuropathy in addition to features that were suggestive of myopathy. An autopsy was performed on one patient. We discuss the significance of the concurrence of neuropathic features with oculopharyngeal muscular dystrophy in relation to these patients and previously reported cases.

The ability of cutaneous squamous cell carcinoma of the face to cause ophthalmoplegia or central nervous system dysfunction via perineural spread is not well recognized. Five patients presenting to a general neurology unit are described in whom partial or complete ophthalmoplegia developed following fifth and seventh cranial nerve involvement by cutaneous squamous cell carcinoma. Two patients subsequently developed a contralateral hemiparesis; and one, multiple cranial nerve palsies as the tumor spread centrally. Normal radiologic findings or complete healing of the primary skin lesion caused delay in the diagnosis in three of the patients. When ophthalmoplegia or central nervous system dysfunction develops as a consequence of perineural spread of cutaneous facial cancer, management is palliative.

We report four patients with paralysis of downward gaze but with intact upward gaze, including one with detailed clinico-pathological studies and another with a focal computerized axial tomographic (CT) scan abnormality confirming the presence of bilateral lesions of the dorsomedial red nucleus, including the fasciculus retroflexus. It is suggested that sudden, permanent selective failure of downward gaze accompanied by transient disturbance of consciousness is an embolic syndrome of the posterior thalamosubthalamic or rubral artery.

A 61-year-old man with upgaze paralysis was found on postmortem examination to have had a single lesion of the brain stem confined to the periaqueductal gray matter between the levels of the superior and inferior colliculi. Most previous neuropathologic cases reported in human beings have consisted of much larger lesions with common involvement of the posterior commissure and pretectum. We suggest that the lesion in this case caused upgaze paralysis either by interrupting descending fibers from the interstitial nucleus of Cajal or by destroying neurons located within the periaqueductal gray matter.

The conditions of a young woman and a boy with Kearns-Sayre syndrome (KSS) deteriorated abruptly; they died despite pacemaker control of complete heart block (case 1) and without evidence of arrhythmia or asystole. Extensive spongy vacuolization of the brainstem was shown by serial computerized tomographic scanning (case 2) and at autopsy (case 1). A review of the literature indicated that KSS in childhood is particularly severe and is associated with diffuse, progressive, spongy degeneration of the brain. Children with KSS have clinical, roentgenographic, and neuropathological evidence of spongy degeneration of the brain, which may be related to abrupt deterioration and death despite adequate control of heart block. Periodic brainstem auditory evoked response studies may allow early recognition of this process.

A 65-year-old man suffered a midbrain infarct after coronary artery bypass surgery. He was left with a severe neuro-ophthalmologic deficit consisting of paralysis of upward and downward vertical gaze, weakness of adduction of the left eye, a dilated fixed left pupil, and partial right Horner's syndrome. He died 31 months after the episode. Postmortem examination disclosed an infarct involving parts of both oculomotor nuclei as well as supranuclear structures thought to be involved in the mediation of vertical eye movements.

Ophthalmoplegia is rarely observed in patients with amyotrophic lateral sclerosis (ALS). We describe a patient with ALS in whom ophthalmoplegia, initially appearing midway in her course, progressed to total paralysis of extraocular movements by the time of death. In addition to the usual postmortem findings of ALS in the brain stem and spinal cord, there was extensive neuronal loss and gliosis involving the caudal portions of the dorsal and intermediate components of the oculomotor nuclei, the caudal part of the trochlear nuclei, and the abducens nuclei. This represents the first detailed report of the findings in the nuclei of cranial nerves III, IV, and VI in a patient with ALS and ophthalmoplegia.

One month before death, a 63-year-old man with known lung carcinoma manifested a left third-nerve palsy and crossed ataxia. The oculomotor involvement began with a dilated left pupil and progressed to a complete left oculomotor nerve palsy, with the exception of nearly normal lid function. Pathologic examination revealed a solitary midbrain metastasis involving the left third-nerve nucleus and rootlets, with the exception of the caudal central oculomotor subnucleus and its outflow fibers.

The Kearns-Sayre syndrome (KSS) appears to be a distinctive disorder characterized by progressive external ophthalmoplegia, pigmentary degeneration of the retina, heart block, and elevated CSF protein levels. Recent reports have suggested that abnormalities of muscle mitochondria may also be a consistent finding in KSS. We recently examined a patient with KSS whose skeletal muscle contained abnormal mitochondria. In addition, a computerized tomographic scan of the head showed cerebellar and brain stem atrophy, as well as calcification in the region of the basal ganglia.

Möbius syndrome undoubtedly results from a variety of disorders affecting central or peripheral portions of appropriate cranial nerves or their target muscles. Pathological alterations observed in cranial nuclei are most often viewed as aplastic or dysplastic lesions. Two patients with Möbius syndrome with associated facial and skeletal malformations showed mineralized necrotic foci in multiple brain stem nuclei. Prenatal encephalomalacic lesions represent the pathological basis for some cases of congenital static Möbius syndrome.

The records of 17 patients whose neurological examination disclosed oval pupils in one or both eyes were reviewed. Sixteen of the 17 had serious cerebrovascular illnesses--hypertensive cerebral hemorrhage (five patients), ruptured saccular aneurysm (five patients), epidural hemorrhage (one patient), bilateral cerebral infarction (two patients), brainstem strokes (two patients), and cerebral anoxia (one patient). One patient was recovering from an oculomotor palsy. Oval pupils usually represent a transient, unstable phase in progressive injury to the oculomotor complex and less frequently a transient phase of recovery.