The patient is a 43-year-old female with weakness and
fatigue. The problem began in August 2003 and progressed
gradually until, in December, she was unable to walk more
than twenty yards without falling and was sent by her
primary care physician to the ER. After a week in the
hospital, she was sent home and has been improving very
slowly ever since. She is now unable to walk more than fifty
yards or sit up for more than an hour, and has been unable
to work for five months. Proximal muscles are more affected
than distal, but distal are affected as well. Muscles are no
longer significantly weak upon examination. Patient reports
that the main symptom of every illness she has had for many
years, such as minor upper respiratory infections, has been
fatigue. An otherwise normal pregnancy in 1996 was
accompanied by similar symptoms of fatigue which resolved
shortly before delivery; TSH was 1.3 at the time, and no
explanation was ever found.
Abnormal test results include the following: EMGs
"consistent with a subclinical myopathy"; high serum lactic
acid (3.0 for normal range of .5 to 2.2) although completely
at rest (no walking at all); slightly elevated cortisol
levels which improved with extended bedrest. Earlier, a
stress echocardiogram showed her heart was unable to
increase efficiency during exercise, but an angiogram showed
no sign of coronary artery disease.
Normal test results included: normal spinal reflexes; normal
TSH, free T3, and free T4 (patient has well-controlled
hypothyroidism); no signs of muscle damage (normal creatine
kinase, aldolase, etc.); no signs of depression on several
screening tests; no increase in headaches (patient continues
to have two migraines per month as before the illness
began); no sore lymph nodes; normal nerve conduction tests;
normal response to repetitive nerve stimulation tests;
negative tests for myasthenia gravis antibodies; normal sed
rate; normal c-reactive protein; normal 2D serum
electrophoresis; normal MRIs of pituitary, adrenals, brain,
thoracic spine, and cervical spine; negative hepatitis B &
C; normal muscle biopsy; normal serum magnesium; negative
test for heavy metal poisoning; normal blood pressure;
normal chest x-ray; serum pyruvate at top of normal range;
normal blood glucose, electrolytes, etc.
The patient feels quite well if she lies in bed most of the
time. She sleeps well at night, is not sleepy during the
day, and never naps. She does not have sleep apnea. She has
no signs of CFS except for the fatigue itself. She has not
been exposed to ticks and does not live in an area in which
Lyme disease has been found. There is no facial weakness,
ptosis, or double vision. As recently as July 2003 (the
month before symptoms began), she was able to walk three
miles a day, and did so most days. She has never used statin
drugs, and consumes no more than one glass of wine per day.
There are no sensory symptoms at all - no numbness, no
tingling. Balance is good. Gait is normal.
The most recent diagnosis was myopathy, but the muscle
biopsy was normal. Is it possible to have myopathy with a
normal muscle biopsy?
What would you consider, as a diagnosis? What additional
illnesses should be ruled out?
Thanks for any suggestions you can offer. We are just
looking for more ideas, while waiting for an appointment
with yet another neurologist.