Neuro ophthalmological diagnoses you can’t afford to miss

1. David M Katz, MD Bethesda Neurology, LLC7830 Old Georgetown Rd, C-20 Bethesda, MD 20814 301.540.2700

2. Patient #1 73-year-old healthy female seen 2/20/13 complaining of sinus pressure around her eyes and blurred vision OD for several weeks Internist prescribed two rounds of antibiotics for a presumed sinus infection Vision blurred OD 3 weeks ago Transient blurred vision OS 10 days ago CT orbits ordered by PMD normal

3. Patient #1 Sees optometrist and ophthalmologist: Vacc 20/400 OD, 20/20 OS No relative afferent pupillary defect (APD) Confrontation visual fields full OU Funduscopic exam: normal, no optic disc edema or atrophy

4. Patient #1 Differential Diagnosis? Infection? (no pain, proptosis, injection, normal CT sinuses) Bilateral retrobulbar optic neuritis? (too old) Anterior ischemic optic neuropathy/AION? (no disc swelling or heme) Functional visual loss? (no secondary gain) Chiasmal lesion? (no bitemporalhemianopsia) Retrogeniculate lesion? (no homonymous hemianopsia) Toxic optic neuropathy? (not symmetrical, no atrophy) Lebers Hereditary Optic Neuropathy? (too old, wrong sex, normal appearing nerves) Posterior ischemic optic neuropathy/PION? (no blood loss, no recent surgery or severe trauma) Why no RAPD? Because both optic nerves must be affected or its retinal or functional Work up? (hint, a $10 test)

5. Patient #1 ESR=95 (nl 2 cm confirms the diagnosis in 95% of cases. If negative, a contralateral biopsy has a yield of only 3% (Boyev 1999).

8. Arteriticischemic optic neuropathy Vision loss from GCA is most often due to ischemic optic neuropathy (ION), either A(nterior)ION (with disc swelling and heme) or P(osterior)ION (without) as in this patient GCA can also cause CRAO or choroidalinfarctions GCA patients tend to be older (mean age=75 years) than non-arteritic ION patients (mean age=57 years)

9. GCA diagnosis Symptoms: headache, scalp tenderness, jaw claudication, swollen and pulseless superficial temporal arteries, PMR, fatigue, weight loss, fever, malaise, transient monocular blindness, diplopia Elevated ESR present in >90% of patients

10. GCA treatment High dose steroids must be initiated as soon as the diagnosis is considered, dont wait for TABx results Return of vision after steroid initiation is 20/60 in 50% Va40-year-old check for diabetes and HTN. Do not need to proceed with emergency imaging. If doesnt improve by 2 months, proceed with MRI and MRA. If >60, especially with new onset headache, check ESR and CRP for giant cell arteritis Aberrant regeneration of III nerve: eyelid retraction in adduction and/or infraduction, miosis in adduction. Only caused by compression (aneurysm, tumor, prior trauma) and requires imaging study if no trauma history

18. Case #3 22-year-old previously healthy female was admitted to her local hospital in Portsmouth, VA with progressively worsening confusion, lethargy, gait instability which, according to her family began several weeks prior (patient unable to give history) An inpatient ophthalmology consult was requested to evaluate abnormal eye movements noted by the family, ICU staff and neurology consultant

19. History of Present Illness Two weeks prior to admission, patient presented to her local ER with weakness, fatigue, blurred vision, gait instability, memory loss and dizziness. 59 lb weight loss since bariatric surgery three months prior BP 100/70, P=114 Diagnosis: non-specific vertigo. Discharged on meclizine

20. Medical History Past medical history Morbid obesity, BMI=44 (obese>30) Obstructive sleep apnea, not using CPAP Hypercholesterolemia Past surgical history Laproscopic Roux-en-Y gastric bypass three months prior Past ocular history Strabismus surgery age 5 for congenital exotropia. Baseline visual acuity (VA) 20/20 OD, 20/50 OS Medications Multi-vitamin, iron, oral B12 Allergies None known Family history Diabetes, obesity, glaucoma, coronary artery disease Social history Denied alcohol, tobacco, illicit drugs. Full-time college student

21. Neuro-Ophthalmological Exam on Admission Visual acuity uncorrected: 20/100 OU at near Confrontation visual fields: full OU Ocular motility: Intermittent upbeat nystagmus in primary position OU Impaired supraduction OU Normal convergence Alternating exotropia Pupils: No RAPD, 2.5 mm in darkess, 1+ reactive to light and near OU Intraocular pressure: 15 OD, 17 OD via Tonopen Biomicroscopic exam: unremarkable Fundus: unremarkable optic discs, vessels and retinae

22. Neurologic Exam Drowsy but arousable. Gave short answers, oriented to person and hospital, not time. Poor short term memory, no aphasia Cranial nerves: V, VII-XII intact Motor: 3/5 strength throughout but poor effort noted Sensory: patient reacted to pin bilaterally Reflexes: 1/4 and symmetrical with flexor plantar responses Coordination: finger-to-nose dysmetric, no tremor Gait: severe ataxia, could not ambulate without assistance T=100.7, P=123, BP=133/95, RR=19

23. Additional Testing Cranial CT unremarkable Electroencephalogram unremarkable Lumbar puncture: RBC 7 WBC 4 Protein 64 (nl250), folate 11 (nl>6), copper 133 (nl 80-163) looking for Wilsons Disease

24. Patients Axial FLAIR MRI

25. Cranial MRI InterpretationBilateral symmetric, nonenhancing T2 signal abnormalitiesin the thalami, periaqueductal gray matter andhypothalamus. Diffusion weighted MRI unremarkableDiagnosis: highly suggestive of variant Creutzfeldt-JakobDisease (vCJD). Most likely human case of Mad CowDisease.CDC contacted. No other cases reported in US. The threeknown US cases had all lived in England prior to moving toUS.

26. Final trip to hospital Diagnosed with variant Creutzfeldt-Jakob/Mad Cow Disease (vCJD/MCD) and discharged home to die. Life expectancy several months Two weeks later returned to ER with hypotension, tachycardia, respiratory distress, unresponsive Pronounced dead from cardiopulmonary arrest in ICU 12 hours later at age 22

27. Politics of Mad Cow Disease South Korea banned importation of US beef in 2003 because of fears of human transmission of the prion that causes mad cow disease Several days before this patient was diagnosed with vCJD the South Korean prime minister signed an agreement with the US government to end the ban, without input from the general public Once this case went public, 10,000 South Koreans held protests for 40 days, leading to the resignation of 9 ministers The agreement was upheld but with an amendment that the US would randomly test 1% of cows in perpetuity because of this case

28. Autopsy Post mortem brain biopsy specimen sent to National Prion Disease Pathology Surveillance Center at Case Western University Western blot and histopathology did not show prion disease Focal petechial hemorrhages and focal inflammation of small vessels and increased cellularity and disorganization of the vessel walls in the pontineperiventricular region and mamillary bodies Acute petechial hemorrhages, severe edema and relative neuronal preservation Acute Wernickes encephalopathy due to thiamine deficiency

29. Wernickes Encephalopathy Due to thiamine (vitamin B-1) deficiency Carl Wernicke, a Prussian neuro-pathologist, first reported a case in 1881 as a triad of acute mental confusion, ataxia, and ophthalmoplegia Korsakoffamnestic syndrome: memory loss and confabulation in survivors of Wernickes

30. Wernickes Encephalopathy Associations chronic alcoholism prolonged starvation hyperemesisgravidarum bariatric surgery HIV-AIDS healthy infants given the wrong formula Carbohydrate exposure a common trigger

31. Wernickes Encephalopathy: Ocular Abnormalities Signs: Nystagmus Bilateral abduction palsies Conjugate gaze palsies Less frequently noted are pupillary abnormalities such as sluggishly reactive pupils, ptosis, scotomata, and anisocoria

32. Summary AION, PION, CRAO or diplopia with headache >50 years of age, get stat ESR and non-cardiac CRP even if optic disc normal (PION). Start steroids as soon as GCA suspected, shoot first and ask questions later. Rule of the III nerve: pupil sparing complete III in vasculopath, OK to watch pupil. Progressive III or incomplete III or pupil involved III, get stat MRI and MRA, then perhaps CTA and LP. Abnormal eye movements, ataxia and confusion= Wernickes until proven otherwise. Bariatric surgery #1 cause, severe alcoholism is now #2.

33. Thank YouDavid M Katz, MD New Yorker 5/16/12

Neuro ophthalmological diagnoses you can’t afford to miss

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