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Case Challenge Continued: A Woman with Ataxic Gait and Paresthesias

Case History |
February 11, 2014

Case Challenge Continued: A Woman with Ataxic Gait and Paresthesias

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

We present the case diagnosis and ask, how would you evaluate the patient further?

  1. Jaime Toro, MD,
  2. Saúl Reyes, MD and
  3. Maria Camila Bustos, MD
Figure 1
: Fluid-attenuated inversion recovery magnetic resonance imaging of the brain showed nonspecific white-matter changes.

Courtesy of Jaime Toro, MD
Figure 1

Figure 1: Fluid-attenuated inversion recovery magnetic resonance imaging of the brain showed nonspecific white-matter changes.

Courtesy of Jaime Toro, MD
Figure 2
: Sagittal STIR-FSE imaging revealed signal hyperintensity within the cervical spinal cord (Panel A). Axial FSE T2−weighted MR imaging showed signal hyperintensity within the dorsal thoracic spinal cord (Panel B).

Courtesy of Jaime Toro, MD
Figure 2

Figure 2: Sagittal STIR-FSE imaging revealed signal hyperintensity within the cervical spinal cord (Panel A). Axial FSE T2−weighted MR imaging showed signal hyperintensity within the dorsal thoracic spinal cord (Panel B).

Courtesy of Jaime Toro, MD

The 57-year-old woman presenting with myelopathic symptoms (NEJM JW Neurol Jan 23 2014) had a serum vitamin B12 level that was above the lower end of the laboratory reference range at 206 pg/mL (normal, 180–914 pg/mL). The cerebrospinal fluid (CSF) analysis was unremarkable. The CSF–VDRL and serum FTA-ABS test were both nonreactive. Enzyme-linked immunosorbent assay for HIV antibodies was negative. An electromyography and nerve-conduction study revealed no abnormalities. Brain magnetic resonance imaging (MRI) showed nonspecific white-matter changes (see Figure 1). Spine MRI showed signal hyperintensity within the dorsal cervical and thoracic spinal cord (see Figure 2), strongly suggestive of a dorsal column myelopathy.

When suspicion of vitamin B12 deficiency remains after a nonconclusive vitamin B12 assay, which test would help clarify the diagnosis?

  • Serum methylmalonic acid and homocysteine levels

  • Serum homocysteine and gastrin levels

  • Serum homocysteine and pepsinogen I levels

  • Serum gastrin and pepsinogen I levels

  • Peripheral blood smear

The conclusion for our latest case challenge has been published. Click here to read the diagnosis and discussion.

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. Acknowledgement: The authors would like to express their gratitude to Dr. Nicolas Useche (Department of Neuroradiology, Hospital Universitario−Fundación Santa Fe de Bogotá) for his assistance in reviewing the MR imaging. The authors also wish to express grateful thanks to Dr. Rocío López (Department of Pathology, Hospital Universitario−Fundación Santa Fe de Bogotá) for her assistance in reviewing the pathology slides.

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

Reader Comments (46)

E. Ward, M. D.

serum methylmalonic acid and homocysteine levels

Nicola Carfagnini Physician, Neurology, my office

serum methylmalonic acid and homocysteine levels. Peripheral blood smear is a simple test but may be confounding (vs leukemia).

JOHN JACKSON Physician, Internal Medicine, Solo Privatel Practice and Outpatient Clinic

Serum homocysteine and methylmalonic acid levels. The CBC was normal at admission (unless no one looked at the slide after the automated CBC machine printed out the results).

arun chatterjee;md Physician, Pediatrics/Adolescent Medicine, clinic

methyl malonic acid and homocysteine levels together with pripheral blood smear will help the diagnosis

noha Physician, Neurology, Egypt

Peripheral blood smear

MIN-CHUN CHEN Physician, Hematology, Tacoma General Hospital, WA

Will check MMA and Homocysteine levels; but may want to initiate Vit B12 tx sooner than later due to the fact that it will take 10-14 days before the sent-out Lab test like MMA level being available to us at our hospital.

FABIO CORSI Physician, Neurology, San Camillo Forlanini General Hospital

Serum methylmalonic acid and homocysteine levels

Waldyr Santos, MD Physician, Neurology, Hospital São Rafael - Monte Tabor, Brazil

MMA and homocysteine levels. Patients with B12 levels lower than 500pg/ml might have the so called B12 relative deficiency. Hemogram looking for macrocytosis may also provide a clue

Madhav Manikal FRCP Physician, Neurology, Hospital Full Time

Serum MethylMalonic Acid, Homocysteine levels - if non contributory, shd get HTLV Ab Serology

Madhav Manikal FRCP Physician, Neurology, Hospital Full time

Serum Methylmalonic Acid and Homocysteine levels

MBBS ,MD Physician, Internal Medicine, KSA

Blood Peripheral Smear as first line.

ILDEBRANDO APPOLLONIO Physician, Neurology, San Gerardo Hospital, Monza, Uiversity of Milano Bicocca, Italy

Serum methylmalonic acid and homocysteine levels are gold standard for Vitamin B12 deficiency, but first I would perform a peripheral blood smear because it is widely available and cheaper.

* * Physician, Neurology, Private practice

The posterior column hyperintensities over much of the cervical and thoracic spine is diagnostic of SCD. MMA and homocysteine levels would be confirmatory if positive, but B12 deficiency is the best diagnosis even if levels are WNL.

Iuliana Kiliment, MD LT MC USN Physician, Other, Naval Medical Center Portsmouth, VA

Serum methylmalonic acid and homocysteine levels will help clarify the diagnoses, however, given the involvement of posterior columns and gait ataxia I recommend checking Copper and ceruloplasmin level.

LEON HYMAN Physician, Allergy/Immunology, West Hawaii Med Group

serum methymalonic acid and homocystiene levels

MURAD RASHEED

MMA and homocysteine level

DANIEL SHAPIRO Physician, Internal Medicine

serum methylmalonic acid and homocysteine levels

PEARL FORMAN Other Healthcare Professional, Neurology, TOURO UNIVERSITY NEVADA

Serum methylmalonic acid and homocysteine levels

Sunil Narayan Physician, Neurology, JIPMER, Pondicherry

Serum methyl malonic acid and serum homocysteine

ANGELO SGHIRLANZONI Neurology

serum methylmalonic acid and homocysteine level

MARTIN KASS Physician, Psychiatry

I would order serum methylmalonic acid and homocysteine levels.

Konstantinos Spigos, MD Physician, Neurology, Private Practice, Corfu, Greece

Serum methylmalonic acid and homocysteine levels. Especially the latter is highly sensitive in B12 defficiency.

Robert Telfer MD Physician, Neurology, Mills-Peninsula Medical Center, Burlingame, CA

methylmalonic acid homocysteine levels.

Tarek Chreih, MD Physician, Family Medicine/General Practice

Serum methylmalonic acid and homocysteine levels

Ferdos Nazari Resident, Neurology

Serum methylmalonic acid and homocysteine levels

juan carlos gianella Physician, Internal Medicine, Santa Cruz - Bolivia.

would help clarify the diagnosis :Serum methylmalonic acid and homocysteine levels.

Grau Physician, Neurology, Hospital Uyapar

Peripheral blood smear

Yangchen Dolkar MD Physician, Internal Medicine

Serum methylmalonic acid and homocysteine level

Kowski Alexander MD Physician, Neurology

B12 deficancy could be revealed by (high level of) serum methylmalonic acid (+ homocystein level) and (low level of) holotranscobaldamin

Gordon S. Moshman Physician, Family Medicine/General Practice, Office

methyl malonic acid and homocysteine levels. B12 levels at the lower limit of normal do not rule out B12 deficiency. The above tests will help clarify if there is a defecit or not.

naveen kumar mattewada Resident, Internal Medicine

serum methylmalonic acid and homocysteine levels

Donna Braham, MBBS, MSc, DM Int Med Physician, Dermatology, uhwi, MOna

Serum methylmalonic acid and homocysteine levels

Dr. V Kantariya MD Physician, Family Medicine/General Practice

Peripherial blood smear, serum methylmalonic acid, homocysteine level, gastrin and pepsinogen1 levels

axel petzold Physician, Neurology, UCL (UK) & VUmc (NL)

Serum methylmalonic acid and homocysteine levels.

The differential diagnosis further embraces Swayback disease and blood copper levels can be useful if above tests come back normal.

Takeshi Yamada Physician, Surgery, Specialized

I think subacute combined degeneration is most likely and Serum methylmalonic acid and homocysteine levels need to examine.

aboubakar sharaf, MD memphis

Answer is homonyms twine & Methyl masonic acid.
Dx: tabes dorsal is vs B 12 def

Vishi verma Physician, Critical Care Medicine, Royal London Hospital

Serum methylmalonic acid and homocysteine levels

Jay Klazmer, D.O. Physician, Neurology, Office/hospital

Sserum methylmalonic acid and homocysteine

Jürgen Pohl MD Physician, Internal Medicine

Serum methylmalonic acid and homocysteine levels and measurement of the active metabolit holotranscobalamin would help to clarify the diagnosis

MB BS FRACP Physician, Endocrinology, australia

elementary

Parul DM Neurology Physician, Neurology, India

Serum methylmalonic acid and homocysteine levels and peripheral blood smear.

Zvonko Mir,M.D. Specialist in Neurology and Psychiatry Physician, Neurology, Medical Practice in Brig -CH

Serum methylmalonic acid and homocysteine levels

Venkatesh S Pai, MD DM Physician, Rheumatology, Private

Peripheral Blood Smear for evidence of macrocytosis/ and especially hypersegmented polymorphs would be the test I would do to look for f/s/o megalobastic picture in this elderly female with likely Pernicious Anemia.

Debra Chesman, MSW Other

Serum methylmalonic acid and homocysteine levels

Andres Acevedo Physician, Family Medicine/General Practice

Although serum methylmalonic acid and homocysteine levels are considered as gold standard for Vitamin B12 deficiency, a first reasonable approach would be to perform a peripheral blood smear which would be widely available and results cheaper than other specialized tests. PBS might provide important clues on Vitamin B12 deficiency-

Camilo Díaz, MD Physician, Spaulding Rehabilitation Hospital

However, it is worthwhile to keep in mind that neurological symptoms may manifest in the absence of anemia or macrocytosis

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