| Identifier |
208-1 |
| Title |
Upbeat Nystagmus |
| Creator |
Shirley H. Wray, MD, PhD, FRCP |
| Affiliation |
(SHW) Professor of Neurology, Harvard Medical School; Director, Unit for Neurovisual Disorders, Massachusetts General Hospital, Boston, Massachusetts |
| Subject |
Upbeat Nystagmus; Bilateral Lid Nystagmus; Wernicke's Disease; Morbid Obesity - Gastric Bypass Surgery; Primary Position Upbeat Nystagmus; Wernicke Encephalopathy; Thiamine Deficiency |
| History |
The patient is a 31 year old woman with a past history of morbid obesity treated in 2005 by gastric bypass with a weight change from 270 pounds to 170 pounds. In January 2008, she was admitted as an emergency to an outside hospital complaining of pressure headache with photophobia and phonophobia, night sweats, transient double vision lasting for seconds only, intermittent numbness and paresthesia in the legs, and unsteady gait. On examination: She was afebrile, dehydrated, with persistent nausea and vomiting. Hematological studies: An elevated lipase/normal amylase without clinical evidence of pancreatitis. Liver function studies were abnormal and believed to be secondary to her significant alcohol intake and to fatty infiltration of her liver due to a high BMI and alcohol excess. Abdominal ultrasound and CTA (all vessels) normal. Procedures: Upper Endoscopy revealed a patent gastric jejunal anastomoses and was otherwise normal. Pathological specimen: within normal limits and negative for H-pylori. Surgery: On 1/16/08 Laparoscopic cholecystectomy and choleangiogram Hospital course: On waking in the morning, the day following surgery, she complained of "jumping eyes, blurred vision and transient episodes of diplopia lasting seconds only". The patient was discharged home. The next day, she returned by ambulance complaining of jumping vision, unsteadiness walking, and severe generalized fatigue. MRI (in an open MRI machine) showed bilateral hyperdensities in the thalamus and also the medulla (Figures 1 - 5). Patient was transferred to the Massachusetts General Hospital on 1/20/08, just four days post-op. Past Medical History: Migraine with photophobia and phonophobia, 8 years. GI bleed 2006, stomach artery cauterized (attributed to iIbuprofen use) Social History: Unmarried mother with one child Works as a nanny Negative tobacco Drinks 2 to 3 glasses of wine per night Denies other drug use Family History: Unavailable Neuro-ophthalmological examination: Visual acuity, visual fields, pupils and fundus examination normal No ptosis Nystagmus: Primary position upbeat nystagmus Upbeat lid nystagmus Upbeat nystagmus visible under closed eyelids Full eye movements Normal convergence Esophoria at distance consistent with divergence insufficiency Neurological examination: Alert, fully oriented, attentive and cooperative Speech fluent with no para-aphasic errors Short term memory 3:3 recall at 2 and 10 minutes Long term memory intact for details of her prior hospital admission. Mini mental function testing showed good cognitive function No confabulation No apraxia Remainder of the cranial nerves intact. Peripheral nervous system: Motor-sensory peripheral neuropathy in the lower extremities Proprioception in the feet only mildly affected Vibration sense impaired at the ankles Reflexes 1+ with reinforcement Plantar responses flexor. Mild gait ataxia attributed to oscillopsia No titubation, trunkal ataxia or limb ataxia Procedures: Spinal tap prior to her transfer showed CSF glucose 63 mg/dL Protein 81.5 mg/dL WBC 1. (The CSF in uncomplicated cases of Wernicke's disease is normal or shows only a modest elevation of the protein content. Protein values above 100 mg/dL or a PSI ptosis should suggest the presence of a complicating illness) Hematological studies: Normal CBC, serum electrolytes, creatinine and BUN Sedimentation rate and C-reactive protein normal. Thyroid studies: normal. Urine studies: 24 hour urine negative for heavy metals. Vitamin levels: Vitamin B12 level 1626 (193-982) Folate level 6.4 (3.0-17.0) Blood transketolase activity is an accurate index of thiamine deficiency. Before specific treatment with thiamine, patients with Wernicke's disease may show a marked reduction in their transketolase activity (as low as 1/3 of normal values (normal range 90-140 mg) expressed as sedoheptulose-7-phosphate produced per milliliter). Restoration of transketolase levels toward normal occurs within a few hours of the administration of thiamine, and completely normal values are usually attained within 24 hours. Diagnosis: Wernicke's disease Wernicke's disease is characterized by nystagmus, abducens and conjugate gaze palsies, ataxia of gait and mental confusion. These symptoms develop acutely or subacutely and may occur singly or, more often, in various combinations. Wernicke's disease is due specifically to a deficiency of thiamine and is observed mainly, though far from exclusively, in alcoholics. Disturbances of consciousness and mentation are present in some form in all but 10% of patients. The triad of clinical features described by Wernicke * Ophthalmoplegia * ataxia and * disturbances of mentation and consciousness - is still clinically useful provided that the diagnosis is suspected and the signs are carefully sort. Often the disease begins with ataxia, followed in a few days or weeks by mental confusion; or there maybe the more or less simultaneous onset of ataxia, nystagmus and ophthalmoparesis with or without confusion. Less often, one component of this triad may be the cell manifestation of the disease. Timely treatment with thiamine prevents the permanent amnesic component of the disease. |
| Anatomy |
Bilateral medial thalamic, periaqueductal and dorsal medulla are selected anatomical sights. |
| Pathology |
Patients who die in the acute stages of Wernicke's disease show symmetrical lesions in the para ventricular regions of the thalamus and hyperthalamus, mammillary bodies, periaqueductal region of the midbrain, floor of the 4th ventricle (particularly in the regions of the dorsal and motor nuclei of the vagus and vestibular nuclei) and superior cerebellar vermis. Lesions are consistently found in the mammillary bodies and less consistency in the other areas. Microscopic changes are characterized by varying degrees of necrosis of parenchymal structures. Within the area of necrosis, nerve cells are lost, but usually some remain; some of these are damaged but others are intact. Myelinated fibers are more affected than neurons. Discreet hemorrhages are found in only 20% of cases. The cerebellar changes consist of a degeneration of all layers of the cortex, particularly of the purkinje cells; usually this lesion is confined to the superior parts of the vermis, but in advanced cases cortex of the most anterior parts of the anterior lobes is involved as well. The nystagmus is attributed to lesions in the region of the vestibular nuclei, and abduction weakness to lesions of the sixth nerve nuclei. The lack of significant destruction of nerve cells in these lesions accounts for the rapid improvement and the high degree of recovery of oculomotor and vestibular functions. |
| Disease/Diagnosis |
Wernicke's Disease; Status post gastric bypass surgery |
| Clinical |
This young woman with Wernicke's disease post gastric bypass surgery, with chronic nutritional insufficiency associated with excess alcohol use shows very striking: • Primary position upbeat nystagmus • Upbeat lid nystagmus • Upbeat nystagmus under closed lids • Divergence insufficiency at distance, consistent with mild abducens weakness Her unsteadiness of gait is not illustrated. In Wernicke's disease, essentially the ataxia is one of stance and gait; in the acute stage of the disease, it may be so severe that the patient cannot stand or walk without support. Lesser degrees are characterized by a wide-based stance and a slow, uncertain, short-step gait; the mildest degrees are apparent only in tandem walking. In contrast to the gait disorder, limb ataxia and intension tremor, elicited by heel-to-knee and finger-to-nose testing is relatively infrequent. The clinical features of upbeat nystagmus are: • Present in center position, usually increases on looking up • Slow phases may have linear, increasing, or decreasing-velocity wave forms • Poorly suppressed by visual fixation of a distant target • Convergence may increase, suppress or convert to downbeat nystagmus • Associated with abnormal vertical vestibular and smooth pursuit responses, and saccadic intrusions (square-wave jerks) that produce a bow tie nystagmus. The vestibular ocular reflex may be abnormal, especially in patients with Wernicke's disease. Upbeat nystagmus is less well localized than downbeat nystagmus, being reported predominantly with paramedian lesions of the medulla but also with pontine and midbrain abnormalities. Upbeat nystagmus is a common finding in Wernicke's disease, in which case its direction may be changed with convergence. Upbeat nystagmus may be associated with contrapulsion of saccades (hypermetria away from the side of the lesion, hypometria toward the side of the lesion), an issue that may provide clues about its pathogenesis. Peripheral neuropathy: Peripheral neuropathy is found in more than 80% of patients with Wernicke's disease. In most patients, the neuropathic disease is mild and does not account for the disorder of gait but it may be so severe that stance and gait cannot be tested. Postural hypotension and syncope are common findings in Wernicke's disease and are probably due to impaired function of the autonomic nervous system. Unsteadiness of gait: In Wernicke's disease, essentially the ataxia is one of stance and gait. In the acute stage of the disease, it may be so severe that the patient cannot stand or walk without support. Lesser degrees are characterized by a wide-based stance and a slow, uncertain, short-step gait; the mildest degrees are apparent only in tandem walking. In contrast to the gait disorder, limb ataxia and intention tremor, elicited by heel-to-knee and finger-to-nose testing is relatively infrequent. |
| Presenting Symptom |
Jumping vision Unsteady gait |
| Ocular Movements |
Upbeat Nystagmus; Lid Nystagmus |
| Neuroimaging |
TBrain MRI demonstrates the acute lesions of Wernicke's disease, both the medial thalamic and periaqueductal lesions. But, normal findings on MR imaging do not exclude this diagnosis. The changes are most apparent on the FLAIR and T2-weighted images, but also on diffusion-weighted sequences; the latter is worthy of emphasis because changes of Wernicke's disease may be mistaken for infarction on these images. Imaging is particularly useful in patients in whom stupor or coma has supervened or in whom ocular and ataxic signs are subtle. With clinical improvement the imaging changes are reversible. |
| Treatment |
Wernicke's disease constitutes a medical emergency; its recognition (or even the suspicion of its presence) demands the immediate administration of thiamine. The prompt use of thiamine prevents progression of the disease and reverses those lesions that have not yet progressed to the point of fixed structural change. As emphasized earlier, in patients who show any ocular signs and ataxia, the administration of thiamine is crucial in preventing the development of an irreversible amnesic state. Although 2 to 3 mg of thiamine may be sufficient to modify the ocular signs, much larger doses are needed to sustain improvement and replenish the depleted thiamine stores - 50 mg intravenously and 50 mg intramuscularly - the latter dose being repeated each day until the patient resumes a normal diet. It is also advisable to give B-vitamins to patients with a history of alcoholism. The further management of Wernicke's disease involves the use of a balanced diet and all the B-vitamins since the patient is usually deficient in more than thiamine alone. |
| Etiology |
The etiology of upbeat nystagmus (see Table 10-2 pg 485, Leigh and Zee, 4th edition ref #4). |
| Date |
2007 |
| References |
1. Antunez E, Estruch R, Cardenal C, Nicolas JM, Fernandez-Sola J, Urbano-Marquez A. Usefulness of CT and MR imaging in the diagnosis of Wernicke's encephalopathy. Am J Roentgenol. 1998;171:1131-1137. http://www.ncbi.nlm.nih.gov/pubmed/9763009 2. Fisher A, Gresty M, Chambers B, Rudge P. Primary position upbeating nystagmus. A variety of central positional nystagmus. Brain. 1983 Dec;106 ( Pt 4):949-64. http://www.ncbi.nlm.nih.gov/pubmed/6606479 3. Galetta, SL, Shin, RK, Imbesi, SG. Wernicke Encephalopathy. Arch Neurol. 2000;57:405. http://www.ncbi.nlm.nih.gov/pubmed/10714669 4. Gilman N, Baloh RW, Tomiyasu U. Primary position upbeat nystagmus. A clinicopathologic study. Neurology. 1977 Mar;27(3):294-8. http://www.ncbi.nlm.nih.gov/pubmed/557768 5. Jagadha V, Deck JH, Halliday WC, Smyth HS. Wernicke's encephalopathy in patients on peritoneal dialysis or hemodialysis. Ann Neurol. 1987;21:78-84. http://www.ncbi.nlm.nih.gov/pubmed/3827216 6. Kavuk I, Agelink MW, Gaertner T, Kastrup O, Doerfler A, Maschke M, Diener HC. Wernicke's encephalopathy: unusual contrast enhancement revealed by magnetic resonance imaging. Eur J Med Res. 2003 Nov;8(11):492-4. http://www.ncbi.nlm.nih.gov/pubmed/14644703 7. Leigh RJ, Zee DS. The Neurology of Eye Movements 4th Edition. Oxford University Press, New York 2006. 8. Suzuki S, Ichijo M, Fujii H, Matsuoka Y, Ogawa Y. Acute Wernicke's encephalopathy: comparison of magnetic resonance images and autopsy findings. Intern Med. 1996 Oct;35(10):831-4. http://www.ncbi.nlm.nih.gov/pubmed/8933197 |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Source |
3/4" Umatic master videotape |
| Relation is Part of |
163-3; 166-3; 906-4; 917-5; 941-5; 942-3 |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Shirley H. Wray Collection: https://novel.utah.edu/Wray/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6dj8c8x |
| Setname |
ehsl_novel_shw |
| ID |
188612 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6dj8c8x |
