Medical Mystery Continued: A Woman with Progressive Cognitive Decline and Apraxia

Jaime Toro, MD, Saúl Reyes, MD, +7 more

Jaime Toro, MD, Saúl Reyes, MD, Lisseth Burbano, MD, William T. Hu, MD, PhD, Kelly D. Watts, MS, Se Min Heo, BSc, Thomas S. Wingo, MD, Gonazalo Ucrós, MD and Manuel Yepes, MD

Nov 18, 2014

Jaime Toro, MD, Saúl Reyes, MD, +7 more

Jaime Toro, MD, Saúl Reyes, MD, Lisseth Burbano, MD, William T. Hu, MD, PhD, Kelly D. Watts, MS, Se Min Heo, BSc, Thomas S. Wingo, MD, Gonazalo Ucrós, MD and Manuel Yepes, MD

November 18, 2014

Jaime Toro, MD, Saúl Reyes, MD, +7 more

Jaime Toro, MD, Saúl Reyes, MD, Lisseth Burbano, MD, William T. Hu, MD, PhD, Kelly D. Watts, MS, Se Min Heo, BSc, Thomas S. Wingo, MD, Gonazalo Ucrós, MD and Manuel Yepes, MD

November 18, 2014

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

This 53-year-old woman presenting with cognitive decline and apraxia (see NEJM JW Neurol Nov 7 2014) had normal levels of serum vitamin B12, folic acid, thyroid-stimulating hormone, and thyroid hormone level; thus, potentially treatable causes of cognitive impairment were excluded.

A contrast-enhanced magnetic resonance imaging (MRI) of the brain revealed severe cortical atrophy of the frontal and parietal lobes, mainly on the right hemisphere (see ).

Cerebrospinal fluid (CSF) protein levels and glucose were normal. The CSF-VDRL (venereal disease research laboratory) and serum FTA-ABS (fluorescent treponemal antibody absorption) test were both nonreactive. ELISA (Enzyme-linked immunosorbent assay) for HIV antibodies was negative.

Which test would help clarify the diagnosis?

CSF 14-3-3 protein
CSF total tau (t-tau), phosphorylated tau181 (p-tau), and the 42–amino acid form of amyloid-beta (aβ42)
CSF alpha-synuclein and neurofilament light chain
Positron emission tomography (PET) amyloid imaging
Genetic testing

The third part of this three-part case has been published. Click here to read the case conclusion and a discussion of reader input.

Authors

Jaime Toro, MD

Disclosures

Editorial BoardsMultiple Sclerosis and Related Disorders

Jaime Toro, MD

Disclosures

Editorial BoardsMultiple Sclerosis and Related Disorders

Saúl Reyes, MD

Lisseth Burbano, MD

William T. Hu, MD, PhD

Kelly D. Watts, MS

Se Min Heo, BSc

Thomas S. Wingo, MD

Gonazalo Ucrós, MD

Manuel Yepes, MD

Medical Mystery Continued: A Woman with Progressive Cognitive Decline and Apraxia

Topics

Authors