Syndromes Flashcards
Uncal herniation
Supratentorial mass may cause downward displacement and herniation of uncus across tentorial edge (compresses nerve). Patient usually AMS.
Cavernous sinus syndrome
With or without CN3,4,5, sympathetic plexus, optic nerve or chiasm
Orbital syndrome
CN3 divides into superior and inferior division as it enters orbit- involvement of orbit –> paresis of structures innervated by either of these divisions
Looking for CN4 palsy in setting of complete CN3 palsy
Patient is instructed to look down while the examiner looks for intorsion (based on conj blood vessels). If ABSENT, then CN4 paresis
light induced amaurosis
Light-induced amaurosis is a very characteristic finding of ocular ischemic syndrome.
Dx studies to order in evaluation: FA, carotid dopplers, CTA, or MRA.
Ophthalmodynamometry (low, unlike CRVO)
FA: delayed arm to eye time and would highlight any areas of possible retinal / optic nerve neovascularization.
SLE/DFE: hypotony, mid-peripheral dot blot heme (often more asymmetric between eyes and peripheral than typical dot blot heme seen in diabetes), K edema, rNVE, and prominent anterior chamber flare.
Rx: if significant carotid stenosis, carotid endarterectomy
Balint syndrome
Due to bilateral parieto-occipital lesions.
Classic triad:
optic ataxia
acquired ocular motor apraxia
simultagnosia
The underlying etiology is usually either bilateral strokes or cortical dysfunction from a variant of Alzheimer’s disease which predominately affects the parieto-occipital region known as posterior cortical atrophy (or the visual variant of Alzheimer’s disease).
differentiating orbital apex vs cavernous sinus
Cavernous sinus and the orbital apex share many of the same nerve components including cranial nerves 3, 4, V1, and 6 along with third order sympathetic neurons. Often need MRI to distinguish.
Optic neuropathy = orbital apex.
ON does not pass through the cavernous sinus.
However, the same process in theory could also extend posteriorly to involve the cavernous sinus.
V2 is present in the POSTERIOR portion of the cavernous sinus before exiting the skull base via the foramen rotundum. Since an anterior cavernous sinus and an orbital apex lesion both would spare V2, the presence of absence of V2 involvement is not a great localizing sign (but if V2 impairment is present it could be helpful).
Ocular apraxia
Ocular apraxia is difficulty initiating saccades.
Optic ataxia
Optic ataxia is essentially acquired poor hand-eye coordination caused by a disconnect between vision and motor functions. There are many other causes of poor hand-eye coordination so this is not that helpful in making a diagnosis of Balint syndrome.
Simultagnosia
Simultagnosia = most prevalent component of the Balint syndrome triad and is also arguably the most useful sign to look for on examination.
Def: failure to understand the entire meaning of a picture despite retaining the ability to recognize isolated objects within the picture.
can not “see the forest through the trees.”
Tested for by using the “cookie theft picture” and asking the patient to give an account of what is happening in the picture. A patient with simultanagnosia may describe one item in the picture but will be unable to provide a complete interpretation of the scene.
Similarly, Ishihara plates are actually complex images. A patient with simultanagnosia will have intact color vision but will be unable to identify the number within the pattern. Inability to identify color plates in an elderly patient should raise suspicion for PCA.
Object agnosia
Object agnosia is the inability to visually recognize objects despite being able to recognize objects based on touch or description.
Chromatopsia
Chromatopsia is the illusion of vision exhibiting an abnormal color. Digoxin toxicity-related chromatopsia is usually described as a yellow (i.e. “xanthopsia”) or yellowish green hue throughout the visual field. It is typically reversible with cessation or decreased dose of the drug.
These visual effects can occur despite “normal” serum level of digoxin on lab testing. ERG may reveal cone dysfunction in these patients.
Sildenafil (Viagra) has been reported to result in a blue chromatopsia and this illusion may be a harbinger of an underlying risk in certain individuals for more serious ocular pathology such as non-arteritic anterior ischemic optic neuropathy (NAION) due to Sildenafil (and related erectile dysfunction (ED) drugs). The exact association between ED drugs and NAION is still quite controversial.
Photopsias
Photopsias associated with cancer associated retinopathy, MEWDS, AZOOR, birdshot chorioretinopathy, and PVD are all simple, unformed hallucinations because they do not arise from distortion of an object in reality.
Micropsia
Micropsia is the illusion that objects appear smaller than they should and is indicative of macular pathology, parietal lobe pathology, or an unusual migraine headache related phenomenon known as the “Alice in Wonderland” effect
Pulfrich phenomenon
The Pulfrich phenomenon is the illusion that an object moving perpendicular to a person’s line of sight is actually moving toward them or away from them. Theoretically, it could be seen in any disease affecting the conduction of visual information in one optic nerve more than the other. It is usually described in patients who have partially recovered following a bout of optic neuritis.
Heterochromia - peds
Neuroblastoma and birth trauma-related brachial plexus* injuries both cause Horner syndrome.
left Horner syndrome: heterochromia with a lighter colored left iris, anisocoria with a smaller left pupil, and a smaller palpebral fissure on the left
The narrowing of the palpebral fissure from a combination of subtle upper eyelid ptosis and lower eyelid inverse ptosis is more prominent than upper eyelid ptosis.
Sympathetic innervation=required for normal melanocyte development within the iris. In kids, iris on the affected side is often hypopigmented in comparison to the normal contralateral iris.
*(i.e. shoulder dystocia) is a very common cause of congenital Horner syndrome. Another associated feature of brachial plexus injury is arm weakness.
Heimman - Bielschowsky phenomenon
monocular vertical pendular nystagmus - poorly seeing eyes (often in kids). can be 2/2 low-grade pediatric ON gliomas, amblyopia, trauma, and many other causes of vision loss. B/c of possibility of ON glioma, any child with monocular nystagmus should have neuro-imaging performed.
Tolosa Hunt syndrome
idiopathic sterile inflammation of cavernous sinus. Severe ipsilateral periorbital pain along with any deficits of any or all nerves passing through the affected cavernous sinus (CN 3, 4, V1, V2, 6 and the sympathethics). Dx of exclusion (exclude infection/inflammation, lymphoma, carcinoma).
Miller Fisher syndrome
Areflexia, ataxia, ophthalmoplegia
Variant of Guillain-Barre syndrome (oculomotor predominant; EOM affected 1st)
Signs? bilateral ptosis facial diplegia (b/L facial paralysis) respiratory supression swallowing difficulties
CSF?
Elevated protein, normal cell count
Autoantibodies?
GQ1b
Wallenberg syndrome
Infarction to the PICA (posterior inferior cerebellar artery) - laterally medullary syndrome. Constellation of findings (not all features needed for Dx) - ipsi/L Horner’s, ipisi/L loss of pain/temperature in face, contra/L loss of pain/temperature in body and ipsi/L ataxia
Palinopsia
illusion marked by preservation of images or “afterimages”; can be a isolated visual phenomenon or assoc/w/medications, hallucinogenic drugs, seizure disorders, visual pathway lesions
Syndromes affecting MLF
One and a half syndrome
Raymond-Cestan syndrome: damage to MLF and corticospinal tracts; leads to INO + contralateral hemiparesis
“Eight-and-a-half syndrome”: one-and-a-half syndrome + ipsilateral facial palsy (i.e. 1.5 + 7)
hemeralopia
inability to see clearly in bright light and is the exact opposite of nyctalopia
patients with cone dystrophy
Raymond-Cestan syndrome:
damage to MLF and corticospinal tracts; leads to INO + contralateral hemiparesis
Eight and a half syndrome
one-and-a-half syndrome + ipsilateral facial palsy (i.e. 1.5 + 7)
“Numb chin syndrome”
“Numb chin syndrome” or mental nerve neuropathy is highly concerning for malignancy.
MC associated malignancies affecting the mental nerve are lymphoma and metastatic breast carcinoma but many other malignancies have been reported to cause this syndrome including: osteosarcoma, fibrosarcoma, plasmacytoma, metastatic lung cancer, and metastatic prostate cancer.
Sarcoidosis has also been described as a cause of mental nerve neuropathy.
acute idiopathic blind-spot (IBS) syndrome
monocular typically
occurs more frequently in young women and presents with an enlarged blind spot scotoma and adjacent photopsias.
“waste basket” Dx: includes MEWDS and AZOOR
In all of these syndromes, a multifocal ERG often shows focal areas of retinal dysfunction corresponding to the region of the patient’s scotoma. While in theory this could be a presentation of optic neuritis prompting possible intravenous steroid treatment, the lack of pain and APDt make that diagnosis exceedingly unlikely.
Note from commenter: Typically we would order Fundus Autoflourescence and Flourescein Angiogram with or without an ICG before doing an ERG
Brown syndrome
special form of restrictive strabismus marked by inability to elevate the eye when ADDUCTED.
unilateral or bilateral
Severity of the elevation deficits in adduction vary greatly from mild to severe. Severe unilateral cases can even lead to an ipsilateral hypotropia in primary gaze.
Usually congenital in which case it is thought to occur due to a short superior oblique tendon.
Acquired cases 2/2 pathology of the trochlea: trauma, inflammation from idiopathic orbital inflammation, RA, Sjogren’s syndrome, or neoplasm (rare).
Anton syndrome
bizarre denial of blindness usually found in patients with cortical blindness.
Cortical blindness = blindness due to total bilateral impairment of the retrochiasmal optic pathway.
While this could be due to bilateral lesions anywhere posterior to the chiasm, the reality is that bilateral temporal / parietal lobe lesions are often lethal or lead to so many other deficits that total visual loss is not recognized.
Because lesions causing cortical blindness occur posterior to axons involved in the pupillary light reflex, patients with cortical blindness have normal pupillary exams with normal pupillary reactivity.
Silent sinus syndrome
(SSS) (aka, chronic maxillary atelectasis (CMA)).
acquired collapse of the maxillary sinus related to chronic hypoventilation of the maxillary sinus
PMH: allergies or chronic sinusitis thought to lead to obstruction of the middle meatus leading to negative pressure development within the maxillary sinus
Si/Sx: maxillary sinus insidiously and progressively collapses, enophthalmos and diplopia develop. A similar clinical picture can develop when trauma damages the integrity of the middle meatus. Technically speaking SSS is reserved for cases of chronic maxillary atelectasis without a known cause (so trauma induced CMA would not be considered SSS).
Imaging: Collapse (or atelectasis) of the maxillary sinus with resultant downward shift of the inferior rectus muscle. In-bowing of the superior wall of the maxillary sinus (the orbital floor) that is sharply contrasted by the normal outbowing of the contralateral superior maxillary sinus wall.
Rx: maxillary collapse has been stabilized with maxillary antrostomy
Congenital fibrosis of the extraocular muscles type I (CFEOM1) syndrome
thought to be caused by congenital AGENESIS of the 3rd nerve central levator palebrae superioris subnucleus and the bilateral 3rd nerve superior rectus subnuclei
Smilar to congenital ptosis in that there is congenital maldevelopment of the levator palpebrae superioris muscle leading to fibrosis of the affected muscles.
In the case of CFEOM1, however, the process is BILATERAL and affects the SUPERIOR RECTI muscles as well. Considering there is fibrosis of the levator palpebrae superioris, advancement or resection of the levator tendon will NOT be helpful.
General rule is that surgical intervention for ptosis with associated poor levator function requires a frontalis sling type procedure.
Riddoch phenomenon
ability to see moving targets for some patients with cortical blindness who are unable to see any stationary targets.
Hypothesis: cells in the visual system respond better to moving objects compared to stationary ones.
CPEO (Chronic progressive external ophthalmoplegia)
Symmetric ophthalmoplegia + ptosis
No diplopia
Inheritance? Mitochondrial (or other types)
Usually no family history
Path: ragged red fibers
Associated with?
Myotonic dystrophy
Oculopharyngeal dystrophy
Kearns-Sayre Syndrome: CPEO with heart block and severe pigmentary retinopathy
Raymond syndrome
Raymond syndrome is a 6th nerve palsy with a contralateral hemiparesis due to a lesion in the mid-pons affecting the 6th nerve fasciculus along with the corticospinal tract.
CN6 correlate of Weber
CLUMSY: Claude (ataxia)
WEAK: Weber (hemiparesis)
BLOODY: Benedikt (blood is red like red nucleus)
Weber syndrome
3rd nerve correlate of Raymond syndrome. Weber syndrome is due to a midbrain lesion causing a fascicular 3rd nerve palsy and a contralateral hemiparesis.
CLUMSY: Claude (ataxia)
WEAK: Weber (hemiparesis)
BLOODY: Benedikt (blood is red like red nucleus)
Benedikt syndrome
2/2 lesion of the midbrain affecting the 3rd nerve fascicle and the red nucleus which causes an ipsilateral 3rd nerve palsy and a contralateral “rubral” tremor (a slow tremor present with activity and rest).
CLUMSY: Claude (ataxia)
WEAK: Weber (hemiparesis)
BLOODY: Benedikt (blood is red like red nucleus)
Claude syndrome
2/2 damage to the dorsal midbrain affecting the superior cerebellar peduncle and 3rd nerve fasciculus typically resulting in ipsilateral 3rd nerve palsy and contralateral ataxia.
CLUMSY: Claude (ataxia)
WEAK: Weber (hemiparesis)
BLOODY: Benedikt (blood is red like red nucleus)
Dorsal midbrain syndrome (Parinaud)
Can’t look up
Signs? Impaired vertical saccades, usu. upgaze Light-near dissocation Convergence-retraction nystagmus Test with downward rotation OKN drum Caused by co-contraction of horizontal EOM
Collier’s sign
Lid retraction
DDx?
Multiple sclerosis
Stroke
Pinealoma (esp. if Rb in children)
Oculogyric Crisis
Dystonic reaction with sustained usu. upward deviation of eyes with pain
Also backwards neck flexion, open mouth, tongue protrusion; exhausted afterwards
Usually triggered by anti-psychotics, benzodiazepines, etc.
Treatment: antimuscarinic (e.g. benztropine)
Progressive supranuclear palsy
Can’t look down
Signs?
Slowed vertical saccades, usu. downgaze
associated w/ square-wave jerks
Presenting symptom?
difficulty reading
eventually frozen globe, spasm of fixation
Oculocephalic and caloric maneuvers?
Intact
Associated Signs? Apraxia of eyelid opening Axial rigidity Dysarthria Dementia
Gradenigo’s syndrome?
Mastoiditis resulting in inflammation of petrous portion of temporal bone
Affects?
CN 6+7
INO
Lesion of?
Medial longitudinal fasciculus (MLF), named for side of impaired adduction
Motility features?
Slow ipsilateral adduction (hallmark)
Abducting nystagmus
Skew deviation (sometimes)
Common causes?
Demyelination, stroke
Myasthenia gravis causes pseudo-INO
Bilateral INO
“Walled-Eye”, a.k.a. WEBINO
Upbeat nystagmus
One-and-a-half syndrome
Lesion of?
MLF and ipsilateral CN 6 nucleus (Pons)
Motility features?
Ipsilateral adduction & conjugate gaze deficit
Only movement is contralateral abduction
Common cause?
Stroke
GI problems, migratory polyarthritis
with decreased vision?
A: Whipple’s
Ocular findings?
Panuveitis & retinal vasculitis
Vertical pendular oscillations + vertical saccade palsy
Abnormal eye movements seen when patient is?
Chewing
Etiology?
Duodenal infection with Tropheryma whippelii
Diagnosis?
Serum PCR or duodenal biopsy
Treatment?
Antibiotics
Sheehan Syndrome
Postpartum pituitary necrosis
Signs? Hypopituitarism CN palsies (2,3,4,5,6) Subarachnoid hemorrhage Loss of consciousness
Pituitary apoplexy
Acute hemorrhage into a preexisting pituitary tumor
Can cause a compressive optic neuropathy
Aicardi syndrome
Triad?
Infantile spasms or seizures
Agenesis of corpus callosum
Pathognomic chorioretinal lacunae
Inheritance?
XD (X-linked dominant; lethal in males)
