Advertisement

Case Challenge: A Woman with Ataxic Gait and Paresthesias

Case History |
January 23, 2014

Case Challenge: A Woman with Ataxic Gait and Paresthesias

  1. Jaime Toro, MD,
  2. Saúl Reyes, MD and
  3. Maria Camila Bustos, MD

What is the diagnosis? A three-part case challenge.

  1. Jaime Toro, MD,
  2. Saúl Reyes, MD and
  3. Maria Camila Bustos, MD

A 57-year-old woman presented to our neurology clinic with a 4-month history of progressive gait impairment and ascending numbness and tingling of the lower extremities. Her symptoms slowly progressed, and subsequently she noted a cold sensation in both hands, thigh numbness, mild bilateral leg weakness, and a sensation of tightness of the upper abdomen. The patient denied visual changes, incontinence, or constitutional symptoms. Her relatives had not noticed any change in the patient's behavior or cognitive abilities. Gradually, she began to require assistance with activities of daily living. Her medical history was otherwise unremarkable except for long-term gastritis, treated with proton-pump inhibitors. She had no history of surgery, recent immunizations, or blood transfusions.

On examination, her blood pressure was 110/70 mm Hg, pulse rate was 78 beats per minute, respiratory rate was 18 breaths per minute, and temperature was 36.5°C. The neurological examination revealed a normal mental status with no cranial nerve involvement. Muscle strength was 5/5 in both upper extremities and 4/5 in the lower extremities. Deep tendon reflexes were mildly hyperactive in the lower extremities and normal in the upper limbs. Her muscle tone was normal, and she had no Babinski sign. Vibration sense was lost bilaterally up to the iliac crests, and joint position sense was absent at the toes. She had a wide-based ataxic gait (see Video 1 below) and a positive Romberg test (see Video 2 below).

The patient's complete blood count, chemistry panel, and serum electrolyte levels were normal. Thyroid function, erythrocyte sedimentation rate, C-reactive protein, and serum complement levels were all within normal limits. Testing for antinuclear and antineutrophil cytoplasmic antibodies was negative.

What is the most likely diagnosis?

  • Neurosyphilis

  • Vitamin B12 deficiency

  • Multiple sclerosis

  • Copper deficiency

  • Spinal-cord ischemic stroke

How should this patient be further evaluated?

  • Brain and spine magnetic resonance imaging

  • Serum vitamin B12 levels

  • Venereal disease research laboratory slide test — CSF (CSF–VDRL) and serum fluorescent treponemal antibody absorption (FTA–ABS) test

  • Electromyography and nerve conduction velocities

  • All of the above

The diagnosis for this case has been published. Click here to read the diagnosis and questions about further evaluation.

Dr. Reyes is a research fellow, Department of Neurology, Hospital Universitario Fundación Santa Fe de Bogotá, Colombia. Dr. Bustos is a medical student, Universidad de los Andes, Bogotá, Colombia.

  • Disclosures for Jaime Toro, MD at time of publication Editorial boards Multiple Sclerosis and Related Disorders

Reader Comments (79)

Abel Debebe Physician, Gastroenterology, Addis Abeba

It appears to be Subacute combined degeneration of the cord to R/o Neurosyphilis

luis molina Physician

excellent case, vit. B12 deficiency,B12 levels and MRI, Vitamin B12 (cyanocobalamine, or hydroxicobalamin) 1,000mcg IM injeccions,every day for 4 weeks

Chris Hawkes MD FRCP Physician, Neurology, London UK

Marked impairment of joint position, vibration and band like feelings are characteristic of B12 deficiency. Also rapid course OK (can be quicker). Ankle jerks should be absent and odd that no Babinski. Other possibilities: adrenomyeloneuropathy (atypical in middle aged females), paraneoplastic. Copper myelopathy occurs after bariatric surgery and denture fixatives. Some blood tests would be helpful!

PAUL DESJACQUES Other, Neurology, Geneva

Subacute combined degeneration (B12 deficiency)
serum B12 level
spine magnetic resonance imaging

John P. Jackson MD Physician, Internal Medicine, Solo Privatel Practice and Outpatient Clinic

The presence of feelings of could in the hands suggest peripheral neuropathy of the small fibers, thus on reflection copper deficiency should be the first suspicion.

J Physician, Internal Medicine, Solo Privatel Practice and Outpatient Clinic

The presence of feelings of could in the hands suggest peripheral neuropathy of the small fibers, thus on reflection copper deficiency should be the first suspicion.

MARTIN KASS Physician, Psychiatry, Private Office

I concur with the diagnosis of B12 deficiency. I have a patient who had been wasting away (loss of appetite) without a definitive diagnosis but who's symptoms were consistent with b12 deficiency with a history of prior alcohol misuse and is now barely able to ambulate. Alcoholic history here is consistent with likely atrophic gastritis.

Alexios Martzoukos Physician, Neurology, CORFU GREECE

Defficiency of B12 due to gastritis(chronic atrophy gastritis maybe due to alchol abuse-comsuption)

CARLOS HERNANDEZ-LAHOZ Physician, Family Medicine/General Practice, Oviedo (Spain)

Progressive ataxia in adult life is a clinical condition with many possible etiologies. One another diagnosis could be Gluten Ataxia associated to Celiac Disease or Gluten Sensitivity.

pamela nankey Other, Unspecified

Inflammation in the dorsal root ganglia with degeneration of the posterior columns of the spinal cord, without malabsorption deficiencies, has been noted in patients with ataxia and neuropathy diagnosed with non-enteropathic celiac disease. http://www.ncbi.nlm.nih.gov/pubmed/20837968

MD Hospital

Vit B 12 deficiency, How was her MCV ?

EW

vit B12 def or tabes dorsalis

more detailed history (duration of PPI tx, sexual history of patient and spouse)
whichever B12 blood test or STS or both
(positive test(s) obviate need for more expensive or invasive testing unless no response to therapy or progression)

How much does an MRI cost in Colombia, and who pays for it? If the diagnosis could have been made 20 or 30 years ago before MRI and CT scanning were widely available, it can be made today without expensive imaging.

DR.KAMAL AGRAWAL Physician, Critical Care Medicine, MAHARASHTRA(INDIA)

Vit B12 Defi most likly.MCV value,PERIPHERAL SMEAR OPINION ADS TO DIAGNOSIS.Vit B12 LEVEL.MRI SPINE WILL HELP TO RULE OUT OTHER CAUSES.

Carlos Musayon Physician, Family Medicine/General Practice

B12 def vs Neurosyphilis
Plasmatic B12 vit levels,
Brain and spine MR
Venereal test

Estefania, MD

B12 def is most likely, even with normal CBC.

Do VB12 serum levels, methylmalonic acid and homocysteine levels.
Also a neuroimaging could be useful to rule out other diagnosis such as spinal cord injury.

Chebii Kipkulei, MD Physician, Internal Medicine, NCVC

Likely Vit B12 def due to chronic gastritis

william

B12 deficiency
excellent case!

David Blackman ,M.D.

Vit B12 deficiency is Dx
Vit B12 serum level

Marc Allewaert Physician, Neurology, home

subacute combined degeneration,spinal lesion
Need MRI cervical spine.
probably Vit B 12 deficiency.

OSVALDO BUSTOS Physician, Family Medicine/General Practice, Retired

This patient has a typical history, physical findings, clinical course, laboratory and imaging findings of a progressive myelopathy secondary to vitamin B12 deficiency, resulting in the syndrome of subacute combined degeneration of the spinal cord. In this case, the cause is impaired absorption of vitamin B12 due to chronic gastritis made worse by chronic PPI administration (gastric achlorhydria should be documented with a Schilling test). Evaluation: Serum level of vitamin B12, brain (for possible optic nerve involvement) and spine MRI, EMG & NCV studies.

PEARL FORMAN Other Healthcare Professional, Neurology, TOURO UNIVERSITY, NEVADA

Spinal cord ischemia would not have a gradual onset. The long history of PPI use would suggests B12 deficiency. The ataxic gait and positive Romberg's test would be consistent with B12 and possibly Tabes dorsalis.( It would be helpful to have more family and social history). I would also expect elevated ESR and CRP . The clinical findings of increased deep tendon reflexes in the lower extremities are more consistent with MS (an upper motor neuron disease) .However with the information available the most likely diagnosis would be Vitamin B 12 deficiency I would get and MRI of the brain and spine only if the B12 levels and tests for syphilis were negative.

Lucas Cruz Fellow-In-Training, Internal Medicine

Vit. 12 or multiple sclerosis

Lucas Cruz Fellow-In-Training, Goiás, Brasil

I would think first in Vitamin B12 deficiency and Multiple sclerosis because its seens that she have a cerebelar disfunction. Her epidemio contribute to this: Female, 54 ys old, Alcohol comsuption?, anxiety disorder?, Retired? Proceed the investigation..

Ganesh Yogalingam Physician, Geriatrics

B12 deficiency with Subacute combined edge ration of the cord

Ty Alekzander Talamera

Tabes Dorsalis

MUSA Physician, Neurology

based on dorsal tract symptoms from Lower ext. history of Gastritis and PPI use, malabsorption and Achlohydria can cause Vit B12 deficiency. Her reflexes are Central, symptoms are in gradual onset and ascending through long fibers, no Cranial Nerves involved yet, no extrapyramidal movements, thus primary Diag. is Vit B 12 deficiency:
workup: Serum Vit B12, Brain and Spinal MRI, and ENG.
B12 damage can be irreversible in prolonged and severe.

Rolando Lezama

Vitamin •Serum vitamin B12 levels

B12 deficiency

Castro Sierra, Hugo Physician, Internal Medicine, private clinic

a)periferic neuropathy by Vit.B-12 deficiency
b)atrophyc gastritis.
All the exams are mandatory.

Christian Larsen Physician, Neurology

Subacute onset speaks against thromboembolic disease. Deficiency in vitamin B our copper would lead to anemia. I have to go with tabes Marsalis or MS. Oh, and a MR-scan.

ELI SHUTER Other, Neurology, Retired

Tabes dorsallis (a form of neurosyphilis), vitamin B-12 deficiency and copper deficiency may all present as sensory ataxia. However, since the two deficiencies, particularly vitamin B-12 deficiency) are associated with an abnormal CBC, I feel neurosyphilis is the most likely diagnosis. Evaluation should include VDRL and copper and B-12 levels.dd

Eric Lee

Her disease is a myeloneuropathy with severe impairment of the posterior column. The focus has been on B12 def, but I would not omit the strong possibility of copper myeloneuropathy associated with copper deficiency as it can resemble clinical findings in subacute combined degeneration due to vitamin B12 deficiency. She should be queried about the use of denture cream. It can also be seen in absorption dysfunction. I would obtain B12, MMA, copper and zinc. SSEPs and EMG will likely show a large fiber/post column loss which is already known by exam. I would not obtain imaging and CSF until more common things have been ruled out. Neurosyphilis is extremely rare. The progressive nature of her course makes spinal cord infarct very unlikely.

Reshikesh Kandy Physician, Pulmonary Medicine, Chorley Hospital, Chorley .U.K.

Features suggestive of cerebellar dysfunction with involvement of proprioception. Because of more proprioception deficit b12 deficiency could be likely but Multiple sclerosis needs exclusion.

Ivo Lušic

Subacute combined degeneration of the spinal chord connected with achlorhydria caused by PPI.

Patrick Lavin M.D. Physician, Neurology, Vanderbilt University Medical Center

Copper deficiency. Her blood count was normal

ALEJANDRO MILLAN MON Physician, Internal Medicine, Hospital de Pontevedra

The presentación suggests vit B12 deficit, but is it really the most likely diagnosis at that age? In a real consult I would also think about occult alcoholism presenting with Wernicke and polyneuropathy.

birinder BHATIA

B12 Deficiency is likely

sankar Resident, Neurology, chennai

probablity of sub acute combined dgenaration

Alan Hebb, MD Physician, Internal Medicine, Burlington, Ontario

Vitamin B12 deficiency is a possibility and should be ruled out first.

ahmed mahdi Resident, Neurology, Baghdad/neurosciences hospital

This patient suffer from subacute combined degeneration of the spinal cord.....need vit. B12 level assay....however schiling test may be needed also....and If we send MRI of the spine we may see longtudinal myelitis in the posterior column and inverted v sign

John Tulloch MD Physician, Neurology, University of Minnesota Medical Center, Fairview

Vitamin B12 deficiency

All of the above

Jigar Parekh Resident, Neurology, India

Vitamin b 12 or copper deficiency. She warrants an MRI , serum b 12 and copper levels.

Pamela Nankey Other, Unspecified

PPI-associated immunological disorder relative to disruption of gut function. Possible secondary B12 deficiency, food/other sensitivities. Spinal cord compromise should be evaluated as well.

PANAGIOTIS ZOTOS Physician, Internal Medicine

Vitamin B12 deficiency
Serum vitamin B12 levels

Ciro Portugal Physician, Internal Medicine, La Paz Bolivia

Dx.- Vitamin B12 deficiency and cooper deficiency

ANIL C P Physician, Anesthesiology, Little Flower Hospital

Clinical features suggestive of subacute combined degeneration , thinking of vit B12 deficiency .B12 assay .

jameel ahmed, resident Resident, Internal Medicine, kurnool,AP,INDIA

Seems more likely to be B12 deficiency.serum vit b12 level estimation.

K RAWAL Physician, Gastroenterology

It seems pt has subacute combined degeneration of cord secondary to vitamin B 12 deficiency likely due to long term PPI use. So vit b 12 level and MRI of spinal cord would suffice. .

Melgar Hector Physician

Spinal-cord ischemicl stroke
All the above

Erman Medical Student

Vitamin B12 deficiency - Serum B12 levels

Rohan Wilks, MBBS, DM Physician, Internal Medicine, University Hospital of the West Indies

This patient has features of dorsal column dysfunction which may be due to B12 deficiency. This B12 deficiency may be due to an underlying atrophic gastritis or may be due to prolonged PPI use. All the above investigations should be done.

drabdelnasser salama

B12 DEFENCIEY DUE TO PERNICIOUS ANAEMIA WITH GASTRITIS LOG TEEM USE OF PPI

HASSAN ALAYAFI Neurology, KAMC-riyadh

the clinical features of this lady favour the posterior column of the spinal cord involvement, with sensory ataxia syndrome however her hyper-reflexia argue against this diagnosis. However other differential diagnosis should be considered such as multiple sclerosis and copper deficiency and infectious process is less likely. the most likely diagnosis is subacute combined degeneration of the spinal cord. Vitamin B12 work up is recommended with whole spinal MRI. long-term gastritis could be indicative of undiagnosed gastric atrophy, and intrinsic factor deficiency, gastroscopy with gastric biopsy is indicated. syphilis is less likely. Investigation should include vitamin B12 blood level, VDRL, in addition to gastroscopy and stomach biopsy,

Aenza Physician, Internal Medicine, Kingdom of Saudi arabia

This lady has spastic paraparesis with negative Babiski`s sign and involvement of dorsal column of spinal cord, Vibration sense in impaired till level of L1(iliac Crest). impaired proprioception at toes. No eyes or sphincters involvement (less likel MS). Wide based gait and positive Romberg`s test is due to sensory ataxia(she is not Diabetic, do not know about VDRL). She is feeling cold sensation both hands also(the early sign of neuropathy so giving gloves and stocking type). She old, we do not know if she is vegetarian or not.

She seems to be suffering from Subacute Combine Degeneration of Spinal Cord.

For cause Serum B12 level is needed.

Other test
Anti Parietal Cell antibodies
Ant intrinsic factor anti bodies
Stool for ova & cyst.
HIV serology

Ali Bardy Medical Student, Neurology, Eira

B12 deficiency and neurosyphilis are most likely diagnoses, spinal cord lesion is possible but less probable.

John P. Jackson MD Physician, Internal Medicine, Solo Privatel Practice and Outpatient Clinic

As stated by Drs. Parpas, Vigon and Padron above, the most likely diagnosis is B12 deficiency combined sclerosis in the setting of a chronic gastritis and for the PPI related effects Dr. Padron mentioned. However copper deficiency though rare can be associated with B12 deficiency and give a similar presentation though peripheral neuropathy would be more prominent.A CBC , if normal would probably rule out Copper deficiency, though peripheral nerve studies should be conducted in this case.
The progressive onset rules out stoke, Syphilis can never really be ruled out by clinical presentation so at least a FTA-ABS should be performed.Multiple sclerosis can mimic many a thing and should be ruled out too at least an MRI is necessary.
So I would suggest performing all the suggested tests (and a CBC) with some reservation about a LP if the diagnosis is evident from the rest.

Dr. Konstantinos Spigos Physician, Neurology, Corfu, Greece, Private Practice

Lower extremities paresthesias, vibration sense loss and progressive gait difficulty due should lead us to think of a neuropathy, which could cause Romberg's as well, but brisk reflexes exclude it pointing to an additional pyramidal dysfunction at some level, most possibly spinal cord. Cyanocovalamine (B12) defficiency may typically cause this clinical constellation, while gastritis is an additional factor supporting this diagnosis.
I would go first for B12 levels in the serum and secondly for spine imaging before anything else.

bharat malhotra Resident, Internal Medicine

looks like B 12 deficiency, not sure. I will prefer imaging and B12 level. Also I am thinking for LP

bharat malhotra Resident, Internal Medicine

looks like B 12 deficiency, not sure. I will prefer imaging and B12 level. Also I am thinking for LP

SUBODH SINGHAL Physician, GOVERMENT HOSPITAL

provisional diagnosis vit B12defficiency causing subacute demyelination of spinal cord. Neurosyphillis will cause cognitive as well as cranial nerve involvement while MS will cause bladder bowel involvement.

Boer Physician, Neurology, Ofice

B12 deficiency neuropatia, large fiber is lost.

NASER POURSHABAN Physician, Immigration to Canada

Its an chronic involvement of posterior horn of spinal cord in my opinion .

sehelly jahan MD Physician, Neurology, Bangladesh medical college Dhaka

Sub acute combind degeneration degeneration of the cord .
Adv -
S. Vit B-12 level
S. Homoceystine level and Methyle malonic acid .
Blood film

Vit B12 level

* Physician, Internal Medicine

In fact, the diagnosis that are exposed could be probably, however, the absence of incontinence and anemia don't support the neurosyphilis and copper deficiency and B12 deficiency. And the history of 4 months and progressive are improbable stroke spinal-cord... Therefore we should make all testing... may be multiple sclerosis..

MASOOD JAWAID

Vit B-12 deficiency.
MRI Spine and Serum Vit B-12 level.

MASOOD JAWAID

Most likely a case of Vit-B-12 deficiency.
Tests to be done- 1. MRI dorsal spine.
2. Serum Vit B-12 level

alhan abbas Physician, Internal Medicine, MOH

B12 deficiency
Serum B12 level

Herman Ekea, MBChB, MMed Physician, Internal Medicine, Aga Khan University Hospital, Nairobi, Kenya

Vitamin B 12 deficiency. Predominantly posterior column involvement

Do Vit B 12 levels first then treat the deficiency if present

Alfonso Garfias Physician, Neurology, Medical Military School

I think that Multiple sclerosis is more probably, because the presence of romberg +. but a tabes dorsal can not be eliminated, although no dermatologic signs was mentioned.
A IRM of brain and spinal cord are indicated and a CSF (CSF–VDRL) and serum fluorescent treponemal antibody absorption (FTA–ABS) test give us more light for this case.

Rosalie Auster MD MPH Physician, Family Medicine/General Practice, Outpatient clinic

I would not expect spinal cord ischemic strike to have a gradual onset. The normal CBC is against the diagnosis of B12 and copper deficiency but does not rule them out. Certainly the long history of PPI use suggests B12 deficiency. The ataxic gait and positive Romberg's test is classical for Tabes dorsalis but there are no mental changes to support tertiary neurosyphilis. The clinical findings are consistent with MS except for her age - If not unheard of, certainly rare after 50. I would get the MRI of the CNS, the B12 level and the tests for syphilis. I don't know if nerve conduction studies would help.

Debra Chesman Other, Other, Home

I'd check her B12 and Magnesium levels, and if it resembles neuro-syphilis, I'd check for Lyme Disease and co-infections including Babesia from IGenex Labs on the West Coast. (Unless her history screams syphilis, in which case I'd want to rule that out, too.) And I'd check for Diabetes due to the loss of vibrational feeling.

Yelena Roshchina Physician, Pediatric Subspecialty, Maimonides Medical Center Brooklyn, NY

Vitamin B 12 deficiency secondary to chronic gastritis and long term PPI therapy less likely Copper deficiency.
Check B12 level

Harold Kurlander, MD Physician, Neurology

Subacute combined degeneration (B12 deficiency or similar) most likely, especially with chronic gastritis and long-term PPI treatment. Brisk LE reflexes suggest upper motor neuron/cervicothoracic cord pathology, but ischemic lesion unlikely with progressive symptoms.

MAXCY BOINEAU

Vit B-12 deficiency. Get B-12 level

jacqueline mislow Physician, Internal Medicine

B12 deficiency

jacqueline mislow Physician, Internal Medicine

check B12 levels

Giorgos Parpas,MD Resident, Internal Medicine, Nicosia General hospital

Vitamin B12 deficiency
Serum vitamin B12 levels

Ricardo Vigon Physician, Internal Medicine, Private Practice (solo)

It appears to me that a subacute combined degeneration of the spinal chord is impairing progressively mainly the proprioception in this patient.

Plasmatic B12 vitamin levels should be checked as its deficiency is the cause of this disorder. Of course, an MRI and of the spine/brain as well as other supplementary tests would also be of help to asess the extension of the neural damage.

Chronic (atrophic) gastritis that require PPIs long-term use could be in the backstage of this disorder.

FRANCISCO PADRON Outpatient Clinic

Most likely diagnosis is vit-B12 deficiency due to long term treatment with PPI.B12 status declines during prolonged PPI use in older adults, but not with prolonged H2 blocker use; supplementation with RDA amounts of B12 do not prevent this decline. B12 deficiency is common in the elderly and suggests that it appears prudent to monitor periodically B12 status while on prolonged PPI use, to enable correction before complications ensue.I would also work her up for Neurosyphilis before going into further work up(if vit-B12 is wnl.(Ref:JAMDA,Vol 9,issue 3 pages 162-167;2008)

Robert Telfer MD Retired

B12 Def vs cervical cord. Less likely infectious.

Your Comment

(will not be published)

Filtered HTML

  • Allowed HTML tags: <a> <em> <strong> <cite> <blockquote> <code> <ul> <ol> <li> <dl> <dt> <dd>
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Do you have any conflict of interest to disclose?
CAPTCHA
This question is for testing whether you are a human visitor and to prevent automated spam submissions.
Image CAPTCHA
Enter the characters shown in the image.

Vertical Tabs

* Required

Reader comments are intended to encourage lively discussion of clinical topics with your peers in the medical community. We ask that you keep your remarks to a reasonable length, and we reserve the right to withhold publication of remarks that do not meet this standard.

PRIVACY: We will not use your email address, submitted for a comment, for any other purpose nor sell, rent, or share your e-mail address with any third parties. Please see our Privacy Policy.

Advertisement
Advertisement
Advertisement