eddie l. patton, m.d., m.s. cecile l. phan, m.d., f.r.c.p.c. yadollah harati, m.d., f.a.c.p
TRANSCRIPT
CMT AND TREMOR – IS IT REALLY CMT?
Eddie L. Patton, M.D., M.S.Cecile L. Phan, M.D., F.R.C.P.C.Yadollah Harati, M.D., F.A.C.P.
History
71 year old man with a 30 year history of progressive extremity numbness, weakness and wasting and received a diagnosis of Charcot Marie Tooth disease
Several years after onset of numbness he developed balance problems to the point that by the time of his presentation he could not stand without holding on to something
He developed a tremor in his hands starting in the mid 1980’s and was referred to our movement disorders clinic by his brother, a physician, for possible DBS
History
PMH- Renal calculi PSH- Lithotripsy, hernia repair Allergies- NKDA Med- primidone, hydrochlorothiazide FH- He has four siblings and two
children with no neurological problems No family history of CMT
Examination
Tone- Decreased in his extremities Atrophy- Severe atrophy of the
intrinsic muscles of the hand, legs (anterior and posterior department), and forearms (extensor and flexor compartments)
Reflexes- Areflexic throughout Gait- Very unsteady, wide based,
with bilateral foot drop. He was unable to stand without support
Examination
Sensory Exam Vibration- absent at the toes and ankles,
significantly reduced at the knees Joint position- Absent at the toes and
ankles bilaterally Pin prick- symmetrical reduction in
stocking and glove pattern up to mid shins and mid forearm
Coordination- Dysmetria bilaterally to finger to nose and heel to shin
Motor ExamRight Left
Deltoids 5- 5-
Biceps 5 5
Triceps 5 5
Wrist Extension 4+ 4+
Wrist Flexion 5- 5-
Digit Extension 1 1
Digit Flexion 2 2
Interossei 1 1
Illiopsoas 5 5
Knee flexors/extensors 5 5
Tibialis anterior 0 0
Gastrocnemius/soleus 0 0
Toe flexion 0 0
Toe extension 0 0
Exam and further questions…
EMG/NCS
Motor Nerve Conductions- right median, ulnar, peroneal , tibilal and femoral
nerves were all non-conductable Spinal accessory and axillary- severe delayed
distal latencies and severe reduction in distal amplitudes
Sensory Nerve Conductions- absent median, ulnar and sural nerve conductions on the right
EMG- diffuse moderate denervation proximally and distally with moderate amount of spontaneous activity
EMG/NCS
Summary Severe diffuse motor and sensory
demyelinating polyneuropathy, distal greater than proximal, with moderate amount of axonal loss.
Work-up
Complete CMT genetic evaluation- normal
MAG IgM antibody- 191 (N) CSF analysis
WBC-4 Glucose- 57 Protein- 364 Increased IgG synthesis rate and
IgG index Decided at this point to perform a
nerve biopsy
Median Antebrachial Nerve
Nerve Biopsy
H&E- Moderatly severe decreased density of myelinated fibers
Nerve Biopsy
Trichrome: Myelin digestive chamber
Semi-thin: Many small thinly myelinated fibers
Nerve Biopsy
Teased: Note variation in myelin thickness
Nerve Biopsy
Moderately severe depopulation of myelinated nerve fibers. 17% of teased fibers display evidence of dymelination/remyelination. Majority of fibers on semi-thin are small and thinly myelinated, without clusters. There were no onion bulbs noted.
Findings suggest a chronic, moderately severe demyelinating neuropathy
Imaging
MRI Brain- No acute abnormalities MRI- cervical spine- enlargement of
his cervical spine nerve roots
At this point we concluded this was not CMT based on Negative family history Absent onion bulbs on nerve biopsy Marked elevated CSF protein Negative genetic CMT evaluation
Diagnosis
Undiagnosed Untreated Chronic Inflammatory Demyelinating Polyneuropathy
Treatment
Initial course of IV Methylprednisolone at 1000 mg daily for 5 days
Weekly IVMP 1000 mg boosters for 4 weeks Good response
He was then switched to IVIG Initial 5 day course followed by weekly
boosters
Nerve root involvement in CIDP One of the first papers written about
this was by Crino, Grossman and Rostami, “Magnetic Resonance Imaging of the Cauda Equina in Chronic Inflammatory Demyelinating Polyneuropathy” Annals of Neurology 1993
33 y/o man with 5 week history of progressive weakness and unsteady gait, CSF protein 305,WBC 5
Nerve conduction studies and sural nerve biopsy consistent with demyelinating polyneuropathy
Crino et al
MRI of his lumbar/sacrum- Enhancement of the cauda equina
Enhancement suggests inflammation and compromise of BB barrier
Authors suggest that MRI could prove to be useful adjunctive study when suspecting CIDP
Nerve root hypertrophy in CIDP Tazawa et al, “Spinal Nerve Root
Hypertrophy on MRI: Clinical Significance in the Diagnosis of Chronic Inflammatory Demyelinating Polyradiculoneuropathy” Internal Medicine
14 patients with CIDP and 10 controls (6 healthy and 4 other neurological condition)
Electrophysiological studies done in medial and tibial nerves in side most effected
Compared this with MRI findings (STIR images) of cervical and lumbar nerve roots
Tazawa et al
Note marked hypertrophy in cervical nerve roots
Tazama et al
Conclusion Patients with CIDP showed significantly
enlargement of cervical and lumbar spinal roots on MRI compared to control Cervical spine- 6.0-6.8 mm (normal < 5
mm) Lumbar spine- 7.3-10.4 mm
Hypertrophic nerve root changes correlate with electrophysiological indices F-wave conduction velocity of median and
tibial nerves have a negative correlation to corresponding nerve roots
Please tell us how you are responding to treatment…