Supranuclear Paralysis of Upgaze

Supranuclear Paralysis of Upgaze; Bilateral Lid Retraction- Collier's Sign; Convergence Retraction Nystagmus; Vertical Oculocephalic Reflex Normal; Skew DeviationDifficulty Focusing and unsteadinessThe patient is a 71 year old woman who was admitted to the Cardiac Unit following an acute "rush to the head", diaphoresis, and palpitations. She felt she was about to faint. She described seeing gold rings in her vision for a few minutes. Past History: Partial complex seizures since 1987. Thyroidectomy for cancer 1960 Osteoporosis Family History: Mother died from a dissecting aortic aneurysm General Examination: BP 140/70, pulse regular No cardiac murmurs Neurological Examination: Normal Hematological Studies: PT and PTT normal Dilantin level 7.7 Serial CKs negative Holter Monitor: Normal Chest X-ray: Normal Electrocardiogram: Normal Sleep deprived EEG: Showed sharp theta activity over the left temporal lobe. A myocardial infarct was ruled out and the patient was discharged home with a diagnosis of syncope. When she returned home, she spent time playing with her dog and then rested on the floor. On standing up, she perceived the "world moving up and down". She also had a transient sensation of her body being "pitched forward" and her daughter noted that her eyes were staring. The next morning she was unsteady and went down the stairs sitting on each stair. She was brought to the Massachusetts General Hospital ER and admitted. Neurological examination: Speech fluent Oriented x3 Prominent stare Vertical diplopia with limited upgaze Normal convergence Motor System: No motor weakness Reflexes symmetric Flexor plantar responses Sensory System: Normal Co-ordination: Tandem gait mildly unsteady Neuro-Ophthalmic Consult: The patient was very disturbed by a combination of vertical double vision and movement of images (oscillopsia). The history of her body being "pitched forward" suggested a lesion of the otolith pathway. On examination: Visual acuity: 20/40 OU with mild cataracts Visual fields and fundi normal Ocular Motility: Supranuclear vertical upgaze palsy (saccades and pursuit) Bilateral lid retraction in primary gaze - Collier's sign. Convergence retraction nystagmus on attempted upgaze Optokinetic nystagmus with the drum rotating down also produced convergence retraction nystagmus. Convergence normal Full horizontal and downgaze Skew deviation with right hypotropia Upward deviation of the eyes on forced eye closure (Bell's phenomenon) Vertical oculocephalic reflex normal. Pupils 4 mm OU Light/near dissociation 1/11/97, Brain MRI pre and post gadolinium with axial and sagittal T1 FLAIR and T2 and diffusion weighted (DW) sequences showed a small T2 and DW hyperintensity in the right midbrain consistent with acute infarction. Brain MRA: Normal Diagnosis: Pretectal Syndrome Unilateral midbrain infarct Cardiac studies: EKG, Holter monitor and transesophageal echocardiogram were normal. Treatment: Intravenous heparin transitioned to Coumadin therapy.This 71 year old woman with the pretectal syndrome has: • Striking lid retraction in primary gaze - Collier's sign • Supranuclear upgaze palsy, complete for saccades up, and partial impairment for pursuit movements up • Full horizontal and downgaze • Normal convergence • Convergence retraction nystagmus brought out by watching the OKN drum with stripes rotating down • Deviation of the eyes up under closed lids (Bell's phenomenon) • Oculocephalic reflex normal Viewing the eye from the side confirmed: • Retraction of the eyeball The pretectal dorsal midbrain syndrome is known by a variety of names, Parinaud's syndrome, Koeber-Salus-Eischnig syndrome, and the Sylvian aqueduct syndrome and is due to a lesion of the posterior commissure and the nucleus of the posterior commissure (nPC) Parinaud's syndrome is characterized by: 1. Supranuclear upgaze palsy 2. Light/near dissociation of the pupils and 3. Paralysis of convergence Collier's Sign: Collier's ‘tucked lid" sign, has also been termed the posterior fossa stare, and is iinvariable associated with a supranuclear paralysis of upgaze. The lid retraction is usually symmetric and sustained so long as the patient directs his eyes straight ahead or slightly upward. It may be accompanied by excess or infrequent blinking. On downgaze, the tone of the levator decreases smoothly and the lids follow the eye down in normal fashion. When the patient again looks up, lid retraction appears as the eyes reach the horizontal, and continued upgaze increases the disparity between the position of the upper lids and the eyes. Walsh and Hoyt observed retraction of the upper lids in a boy with a pinealoma when his gaze was directed down. This is unusual. Collier's sign has been attributed to compression of levator inhibitory fibers in the posterior commissure originating in the M-group of neurons identified by Büttner Ennever and Horn as playing a major role in the control of eyelid and eye movement function. Nystagmus: Classic descriptions of nystagmus in the pretectal syndrome report : 1. Pure retraction nystagmus (nystagmus retractorius,) 2. Pure convergence nystagmus and 3. The two combined Barrani reported a case with unilateral retraction nystagmus associated with convergent nystagmus of the contralateral eye. Both phenomena have been reported to occur intermittently in the same eye with lesions in the rostral midbrain. Convergence retraction nystagmus is perhaps the most distinctive pretectal phenomenon. Convergence retraction nystagmus may be present before upward gaze becomes grossly limited. With every attempt to make an upward saccade, the eyes first jerk inward several times then diverge again. When the phenomenon is pronounced, any saccadic attempt, horizontal or vertical, causes a convergent jerk of the eyes followed by a slower divergent drift back to the parallel position. Atkin and Bender used the term lightening eye movements to describe bursts of rapid, small amplitude movements seen on attempted upgaze. Patients with such signs complain of slowness in focusing and difficulty reading. When convergent eye movements distort horizontal saccades, the result in limitation of abduction mimics partial abducens nerve palsy, so called pseudo-abducens palsy of upper midbrain lesions. Oculocephalic or caloric stimulation usually produces full abduction and thereby resolves the question of paresis. Pupillary areflexia: Gowers was the first to report pupillary areflexia and upgaze palsy from a pathologically confirmed case of pinealoma. Interestingly, in Parinaud's report two years later, the pupils were small and recorded as nonreactive to convergence, while light reactions were retained. In our experience, and in the reports of others, light-near dissociation of the pupillary light reflexes occurs frequently. The pupils are moderately dilated and poorly reactive to direct light while pupillary constriction to near is retained. This type of pupil abnormality has been called Argyll-Robertson, but it differs from classic Argyll-Robertson pupils by virtue of lack of miosis and the normal response to atropine. The afferent fibers of the pupillary light reflex pass from the optic tract to the pretectum, where they decussate, in part, through the posterior commissure before reaching reticular cells surrounding the Edinger-Westphal nucleus. Light reflex abnormality is frequently present in patients with pineal tumors. Control signals for accommodation coming from the striate and peristriate cortex, are usually spared as they transverse the posterior capsule, and reach the EW nucleus from below. Electronic infrared pupillographic studies, however, have shown that pineal region tumors impair both light and near responses and that true light-near dissociation is rare. Impaired sympathetic pupillary control is equally rare. Alternating contraction anisocoria is another pupillary syndrome of the anterior midbrain. This syndrome is characterized by greater pupillary constriction in the directly stimulated eye than in the consensually reacting pupil a subtle sign of minimal pretectal impairment. Corectopia or displaced pupil may be a permanent or transient sign. Selhorst et al in a case of midbrain corectopia with bilateral rostral midbrain infarction observed the pupils to dilate spontaneously, independently and eccentrically. Sporadic cycles of dilation and constriction, each lasting 5 to 15 minutes, occurred during the last 3 days of the patient's life. The aperture expanded irregularly to an oval shape. The pupils independently shifted off-center, upward and outward in the right eye and downward and outward in the left eye. Then the pupils reconstricted, became round, and returned to the center. Autopsy in this case disclosed isolated but intact EW nuclei and the explanation of midbrain corectopia by the authors centered on the segmental innervation of the pupil by the EW nucleus. In the presence of a paralyzed dilator muscle, select, central inhibition of sphincter tone resulted in oval and eccentric pupils. Skew deviation has been attributed to unilateral or incomplete bilateral destruction of the medial longitudinal fasciculus (MLF) and the disruption of the otolith-ocular pathway from the utricle in the inner ear to the interstitial nucleus of Cajal (INC) in the midbrain. Lesions in the midbrain and INC may present with a sustained contralesional ocular tilt reaction (OTR). Eye movement abnormalities in OTR are: 1. Skew deviation (e.g. hypotropia of the right eye in right OTR) 2. Ocular torsion with upper poles of the eyes rotated towards the lower ear (e.g. in right OTR, excyclotorsion of the right eye and incyclotorsion of the left eye) and 3. Head tilt (e.g. right head tilt in right OTR). Acutely, there may be associated torsional nystagmus. Deviation of the subjective visual vertical (e.g. tilting of the subjective visual vertical to the right in right OTR). Skew deviation was present in 5 of 22 of my cases of pinealoma and in one reported by Dr. Cogan. Paralysis of Convergence: Paralysis of convergence is the third sign completing the triad of Parinaud's syndrome. The syndrome of convergence palsy is characterized by failure of convergence with crossed diplopia when the eyes view a near target but with absence of paresis of the medial recti and lateral gaze. Although the anatomic substrates for convergence, vertical gaze, and pupillary reaction lie in the same vicinity in the midbrain, convergence is often retained when only supranuclear upgaze is involved. Convergence is usually absent when supranuclear downgaze palsy is added.No neuroimaging studies are available in this patient.The neural structures in the mesencephalic reticular formation involved in the generation of vertical eye movements are: 1. The posterior commissure (PC) and the nucleus of the PC (nPC) 2. The interstitial nucleus of Cajal (INC) 3. The rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF) The pretectal dorsal midbrain syndrome is due to a lesion of the posterior commissure and the nucleus of the posterior commissure (nPC). Cells in the nPC project through the posterior commissure to the rostral interstitial nucleus of the MLF, (riMLF), the interstitial nucleus of Cajal (INC) and the M-group of neurons, which relays to the central caudal subdivision of the oculomotor nucleus and coordinates vertical eye and lid movements. Unilateral lesions of the mesencephalic reticular formation create the same bilateral oculomotor syndrome by interrupting both projections through the posterior commissure. The interstitial nucleus of Cajal is frequently involved in lesions producing supranuclear gaze palsies and the INC lesion is not just one of vertical gaze evoked nystagmus but also of restriction in the range of vertical eye movements although saccades are not slowed. Bilateral lesions of INC affect vertical gaze whereas unilateral lesions produce the ocular tilt reaction and ipsilesional torsional nystagmus with quick phases moving the top poles of the eyes towards the side of the lesion. The rostral interstitial nucleus of the MLF (riMLF) is a cluster of neurons which lie adjacent to, but are distinct from the INC. The riMLF is situated rostral to the latter nucleus among the fibers of the MLF and ventral to the nucleus of Darkshevich within a few millimeters of the midline. It also lies near the fasciculus retroflexus and the rostral pole of the red nucleus. Büttner-Ennerver and Büttner gave this region the name rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF) in the monkey, whereas Graybiel referred to it as the nucleus of the prerubral field in the cat. In the riMLF approximately equal numbers of neurons are activated by upward and downward gaze, but none are activated by horizontal movements.Previous cases of bidirectional vertical gaze palsy from a unilateral midbrain infarct have been reported. Alemdar M et al reported a 47 year old woman who developed sudden complete loss of vertical saccades, smooth pursuit, and vestibular eye movements bilaterally. MRI revealed a unilateral midbrain infarct involving the riMLF and the INC and sparing the PC. The lesion was presumed to have interrupted the pathways involved in vertical gaze just before they decussate, inducing an anatomically unilateral but functionally bilateral lesion. Previous reports of bidirectional vertical gaze palsy have shown lesions involving the PC or both riMLFs. Alemdar's case is the first to show that a unilateral lesion of the riMLF and the INC that spares the PC may cause complete bidirectional vertical gaze palsy. Ranalli PJ et al quantified the vertical gaze defect in their patient by magnetic search coil oculography and documented the marked restriction of up and down saccades with preservation of only a 15 degree range of downward movement from midposition and a similar restriction of vertical pursuit movements. Their patient had, in addition to a global vertical gaze palsy: 1. An inverted Bell's with the eyes deviating down on forced eye closure. 2. Seesaw nystagmus 3. Limited convergence 4. Limited oculocephalic movements At autopsy a wedge-shaped area of infarction was found in the right midbrain tegmentum situated dorsomedial to the rostral border of the red nucleus. Its caudal extent reached 1 mm below the level of the habenulopeduncular tract (tractus retroflexus of Meynert); it extended 10.5 mm rostrally, extending in two discreet bands in the medial thalamus, adjacent to the wall of the third ventricle. 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