Challenge Case

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I saw a great case today and wanted to share in the form of an educational discussion. I'd like to see some residents do some cogitating on this one.

59 yo male referred for left lower leg numbness - anterolateral from the knee to the ankle, none in the foot. No pain in either leg. He has a 10 year Hx of proximal LE weakness, progressive to the point he might have to leave his factory job due to fatigue of walking and standing 8 - 12 hours per day. No Hx of LE or back injury. No surgeries. Only meds are HCTZ, and diclofenac for chronic sholder impingment. Quit smoking 10 years ago with approx 30 pack-year Hx. Rarely drinks alcohol. Non-diabetic. No family Hx neuro DO or similar symptoms.

PE shows atrophy of the quads bilaterally, normal to above normal muscle bulk of the shins and calves, except atrophy noted from about 2 inches above the malleoli and distal bilaterally. Intrinsic foot atrophy also noted, except EDB's are still palpable. He has 4/5 strength in the hip flexors, hip abductors and adductors and knee flexors. He has 2/5 knee extensors. 5/5 ankle dorsi and plantar flexion, as well as inversion and eversion and great toe extension, 4+/5 short toe extension, 4/5 toe flexion. Reflexes are absent in the knees hamstrings and ankles. Sensation is anesthetic to soft touch and pinprick along the anterolateral let lower leg, but normal elsewhere in the BLE's, including the feet and toes. No fasciculations noted. Normal muscle tone except for the weakness - no UMN signs. He walks with a shortened gait, leaning back a little.

UE exam shows 4/5 strength to shoulder abduction and external rotation, 5/5 internal rotation, elbow flexors and extensors, wrist and finger flexion and extension. Sensation and reflexes are normal in the BUE's as well.

Neck and lower back exams are benign - no tenderness, full, pain-free ROM. No impingment signs, no neural tension signs. Mental status normal. CN exam normal. Speech normal.

EMG/NCS performed by myself today. Motor studies of the bilateral peroneal and tibial nerves were normal through the knees, peroneal studies at the ankle and above and below the knee, tibial at the ankle and knee. Normal distal latencies, amplitudes and CV's, although the peroneal amplitudes were 3.4 and 3.2 mV, normal is 3.0 and above - near the borderline.

F-waves of the same nerves were all normal in latency and variability. H-reflexes were delayed by about 5 ms bilaterally. Sensory nerves all non-responding - bilateral sural, peroneal, saphenous and tibials.

Needle exam showed the following: bilateral quads had significantly reduced insertional activity, 2+ small PSWs and fibs, minimal small MUAPs, about 3-4 different ones seen at maximal contraction, all polyphasic. Iliopsoas and gluteals showed better insertional activity and recruitment, but still mostly polyphasic with 1-2+ PSWs and fibs.

Left tibialis anterior showed normal IA, 1+ fibs and PSWs, slightly reduced recruitment, no polyphasia. Right tib ant and bilateral gastrocs showed normal IA, no fibs or PSWs, slightly reduced recruitment. Left peroneus longus showed scattered fibs, otherwise normal.

Bilateral EDB's showed decreased IA, no fibs or PSW's and normal recruitment, but 2+ polyphasia. Bilateral FDIP's showed decreased insertional activity, no fibs or PSWs and minimal recruitment, slightly polyphasic - about 1/3.

Lumbar paraspinals showed decreased insertional activity bilaterally middle and lower lumbar, with scattered fibs and PSW's, slightly more on the left side. Upper lumbar PS fairly normal.

I'm deliberately withholding the diagnosis for the 10 years of weakness. What would you diagnose at this point? What would your next step in either treatment or work-up be? Assume the weakness has not be adequetely diagnosed yet. What questions can I answer?

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I saw a great case today and wanted to share in the form of an educational discussion. I'd like to see some residents do some cogitating on this one.

59 yo male referred for left lower leg numbness - anterolateral from the knee to the ankle, none in the foot. No pain in either leg. He has a 10 year Hx of proximal LE weakness, progressive to the point he might have to leave his factory job due to fatigue of walking and standing 8 - 12 hours per day. No Hx of LE or back injury. No surgeries. Only meds are HCTZ, and diclofenac for chronic sholder impingment. Quit smoking 10 years ago with approx 30 pack-year Hx. Rarely drinks alcohol. Non-diabetic. No family Hx neuro DO or similar symptoms.

PE shows atrophy of the quads bilaterally, normal to above normal muscle bulk of the shins and calves, except atrophy noted from about 2 inches above the malleoli and distal bilaterally. Intrinsic foot atrophy also noted, except EDB's are still palpable. He has 4/5 strength in the hip flexors, hip abductors and adductors and knee flexors. He has 2/5 knee extensors. 5/5 ankle dorsi and plantar flexion, as well as inversion and eversion and great toe extension, 4+/5 short toe extension, 4/5 toe flexion. Reflexes are absent in the knees hamstrings and ankles. Sensation is anesthetic to soft touch and pinprick along the anterolateral let lower leg, but normal elsewhere in the BLE's, including the feet and toes. No fasciculations noted. Normal muscle tone except for the weakness - no UMN signs. He walks with a shortened gait, leaning back a little.

UE exam shows 4/5 strength to shoulder abduction and external rotation, 5/5 internal rotation, elbow flexors and extensors, wrist and finger flexion and extension. Sensation and reflexes are normal in the BUE's as well.

Neck and lower back exams are benign - no tenderness, full, pain-free ROM. No impingment signs, no neural tension signs. Mental status normal. CN exam normal. Speech normal.

EMG/NCS performed by myself today. Motor studies of the bilateral peroneal and tibial nerves were normal through the knees, peroneal studies at the ankle and above and below the knee, tibial at the ankle and knee. Normal distal latencies, amplitudes and CV's, although the peroneal amplitudes were 3.4 and 3.2 mV, normal is 3.0 and above - near the borderline.

F-waves of the same nerves were all normal in latency and variability. H-reflexes were delayed by about 5 ms bilaterally. Sensory nerves all non-responding - bilateral sural, peroneal, saphenous and tibials.

Needle exam showed the following: bilateral quads had significantly reduced insertional activity, 2+ small PSWs and fibs, minimal small MUAPs, about 3-4 different ones seen at maximal contraction, all polyphasic. Iliopsoas and gluteals showed better insertional activity and recruitment, but still mostly polyphasic with 1-2+ PSWs and fibs.

Left tibialis anterior showed normal IA, 1+ fibs and PSWs, slightly reduced recruitment, no polyphasia. Right tib ant and bilateral gastrocs showed normal IA, no fibs or PSWs, slightly reduced recruitment. Left peroneus longus showed scattered fibs, otherwise normal.

Bilateral EDB's showed decreased IA, no fibs or PSW's and normal recruitment, but 2+ polyphasia. Bilateral FDIP's showed decreased insertional activity, no fibs or PSWs and minimal recruitment, slightly polyphasic - about 1/3.

Lumbar paraspinals showed decreased insertional activity bilaterally middle and lower lumbar, with scattered fibs and PSW's, slightly more on the left side. Upper lumbar PS fairly normal.

I'm deliberately withholding the diagnosis for the 10 years of weakness. What would you diagnose at this point? What would your next step in either treatment or work-up be? Assume the weakness has not be adequetely diagnosed yet. What questions can I answer?

i'll play along. i have nothing better to do on a friday night (sadly, this is true).

i have a guess or two, but the scenario is not textbook here.

any bloodwork results?

was there any temporal dispersion on EMG?

depending on the answer to these questions, i think an LP might be in order.

btw, what kind of factory?
 
-was the EMG done with exercise; any increment or decrement of CMAP?
any bulbar muscles done?
guesses....
-?? one of the variants of myotonic dystrophy
- any family history of similar weakness?? CMT
- toxic neuropathy/myopathy if he has chronic exposure (ie works in a car battery plant/paint etc....)
 
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i'll play along. i have nothing better to do on a friday night (sadly, this is true).

i have a guess or two, but the scenario is not textbook here.

any bloodwork results?

was there any temporal dispersion on EMG?

depending on the answer to these questions, i think an LP might be in order.

btw, what kind of factory?

No bloodwork available to me. Some temporal dispersion, more proximally with the polyphasia. Factory makes car parts of some sort.

-was the EMG done with exercise; any increment or decrement of CMAP?
any bulbar muscles done?
guesses....
-?? one of the variants of myotonic dystrophy
- any family history of similar weakness?? CMT
- toxic neuropathy/myopathy if he has chronic exposure (ie works in a car battery plant/paint etc....)

No exercise. No bulbar muscles or UE. No family Hx of similar. No CMT, although his legs lend some thoughts to it, but his hands are normal. No known toxic exposures.

No MD but you're in the ballpark for part of it.

Good start on the questions. Keep 'em coming! I want this to be a learning experience for all.
 
lab work I might me interested in intitialy TSH, Mg, K, Na levels
since he works at a car factory, it's possible for metalic toxicity I suppose alltough I have never been in a car mfg plant to really know what goes on there, I'd get a prelim tox panel just to be safe.....

r/o genetic metabolic diseases (you know the one we all learn for step 1 but never have seen clinically....)

inclusion myositis?

other ideas: down the road once initial w/u done and still no answers = muscle biopsy?

Anyone else want to play, we're just residents and can't go wrong with an effort to guess... :confused:




No bloodwork available to me. Some temporal dispersion, more proximally with the polyphasia. Factory makes car parts of some sort.



No exercise. No bulbar muscles or UE. No family Hx of similar. No CMT, although his legs lend some thoughts to it, but his hands are normal. No known toxic exposures.

No MD but you're in the ballpark for part of it.

Good start on the questions. Keep 'em coming! I want this to be a learning experience for all.
 
Great case.

The absent SNAPs and H-reflex are intriguing...does he complain of cramping?

I'm interpretting your gait examination to suggest that he has somewhat of a "myopathic gait."

How did the weakness *START*? More in one lower extremity versus the other? Any bowel and bladder dysfunction?

I would MRI his thoracic and lumbar spine...agree with the other suggestions for lab work.
 
This is a tricky case, as there are several things going on.

The weakness started insidiously and has been progressive. I'll give the answer here, because it's quite the Zebra (almost a Unicorn in the "hoofprint" pantheon - heard about it, but never seen one).

He was diagnosed several years ago with spinal Muscular Atrophy Type 4 - the only adult onset type. Very rare. But he's classic for it with proximal weakness, reduced insertional activity, small fibs and PSWs, reduced reuitment. He's been through thorough testing, so the dx of SMA 4 is definite.

But that does not explain the left lateral lower leg numbness.

The nerve conductions showed absent SNAPs, but he is approaching 60, so sometimes even surals are hard to get. His peroneal amplitudes were low normal and his H-reflexes were slightly delayed. This raises the possibility of superimposed early peripheral polyneuropathy (PPN). The decreased IA in the EDB's with some polyphasia also lends support to this.

But that would explain bilateral foot numbness, which he does not have, not the left lateral lower leg numbness that he does have.

So look at the one, somewhat subtle asymmetry in the needle exam, and tell me what the MRI of his lumbar spine shows...
 
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