by Priya Gopwani with Jamil Madati on the Hot Seat
A 3yo M presents with chief complaint of “abnormal gait." His family reports pain in his legs for the past 2-3 weeks. The pain began in the left thigh, then moved to the right thigh, and once occurred in the left calf. It is intermittent, and improves with motrin and massage.
There is no history of trauma, but his pain seems to be worse after his more active days. Over the last 2 weeks, he has also had progressively more abnormal gait and movement. Initially it was a limp, but now he is exclusively toe-walking and he has difficulty getting up from a seated position on the ground. He will hold onto things to pull himself up (ex. Getting up from sitting on the floor next to his father, he will grab his father’s shoe, then pant-leg, then knee, etc).
He had mild URI symptoms 2 weeks ago that have resolved. No recent fevers, current URI symptoms, vomiting or diarrhea or urinary/stooling difficulties. No trauma to the back or lower extremities. Family has not noted bruising, swelling or deformity. He is acting otherwise at baseline. He has no prior history of similar problems, and is an otherwise healthy child.
XRs at the PCP’s office (hips, femurs, knees b/l) were normal.
PE (normal except as noted):
VS – 36.4C HR 112 RR 24 Wt 16.2kg
Gen – Awake, alert and cooperative, NAD
CV –II/VI SEM
Abd – s/nt/nd, no hsm
Ext – warm, well perfused, no edema
FROM hips, knees, ankles bilaterally with no limitations or pain. No obvious ecchymosis, edema, effusions or deformity.
Back – no spinal process tenderness or deformity
GU – normal male genitalia, V-shaped gluteal cleft with base clearly visible
Neuro – awake, alert, CN II-XII intact, 5/5 motor strength in b/l UEs and LEs, full sensation in UEs and LEs, toe-walking exclusively, difficulty standing from a seated position, 2+ reflexes throughout with the exception of the R patella – 3+, downgoing toes b/l, normal cerebellar testing on FtN, normal rectal tone.
You decide to start with repeat XRs and screening labs.
These are your results:
XR b/l hips, femurs and knees – negative.
WBC 16.22 (40% pmns)
H/H 10.4 / 31.8
Plts 513
BMP wnl
ESR 79
CRP 3.06
LDH 401
Uric Acid 2.9
CK 65
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This is a fascinating case of a 3 y.o. male who presented with subacute onset of progressive proximal leg weakness (c/w Gower sign) and likely secondary toe-walking from proximal weakness who most notably had a normal CK but elevated inflammatory markers. If the CK was elevated, then this would have been a slam dunk diagnosis of Duchenne Muscular Dystrophy. In the differential would be the other causes of muscular dystrophy (Emory-Dreifuss, Becker, Limb-Girdle, etc.). It's interesting that the PE notes 5/5 motor strength in bilateral UE and LEs. I'm not sure if proximal vs. distal muscle groups were tested, as toe walking is a classic symptom of proximal LE weakness. In the differential, we should also consider a spinal lesion, as there was some mild hyper-reflexia, and toe walking could also be neurogenic in orgin. Given the elevated inflammatory markers, perhaps there is a epidural abscess. However, before obtaining emergency spinal neuroimaging, I'd get an urgent Neuro consult. The last thing to remember considering is a congenital spinal anomaly (tethered cord, etc.) that may manifest now as part of a growth phase.
ReplyDeleteI'm looking forward to hearing the denouement and learning what else I should have considered. BTW, I've never heard a gluteal cleft described as "V-shaped". Is this supposed to point us towards something spinal?
Dear Dewesh, You don't document the shape of your patient's gluteal clefts? Really? Wow. I always document the letter they most commonly appear to be. (that is all a joke, for the humor-impaired)
ReplyDelete[Side note: what are we going to do without Tish if the above is what constitutes humor in our division???]
So, back to the case. This is one of those cases that gives me chills... lower extremity pain in itself doesn't cause me much worry (with the whole massage-makes-it-better and the worsening on active days, i'm ready to write it off as "growing pains" or randomness), with the limp, I start heading in the direction of toxic synovitis, but in the back of my mind, I worry about cancer... AND THEN, you throw the tow walking and the classic Gower's sign in and I'm pretty sure we're looking at DMD and I've already consulted neuro and admitted him with NPO after MN for a muscle biopsy...
And then you have those awful, awful labs and I'm back at cancer - I think he has a mass compressing his lower spine... It would explain the pain, the limp, the toe walking, and the lack of CK elevation (good pick-up, DA)...
MRI, but not STAT - we haven't lost bowel or bladder function and he's not paralyzed or insensate.
So, I would call neuro and ortho - why ortho? Because there are 2 daoily reserved MRI spots for musculoskeletal stuff - 8am and 4pm - and I like to coordinate with ortho to get on the schedule...
Actually, Sabah, that's not a bad attempt at Tish-level humor. And any time you get to bust on DA it's worth a chuckle. Anyhow...
ReplyDeleteMy first thought was DMD as well. I feel like he needs a muscle biopsy AND an MRI of the spine. The way to ensure that both of these get done in a timely fashion is to have the patient admitted. My first call would be to neuro.
Thanks Priya for an extremely intriguing and challenging case (remind me to pay you back some day). Had me going back and forth between 3-4 different diagnoses. With that said, having no clear, “slam dunk” diagnosis in mind, I’d try a logical, methodical approach, making sure to address the key historical and physical exam factors that could suggest a worrisome (life threatening, limb/organ threatening) diagnoses, and leave it to the inpatient subspecialists to figure out the final answer.
ReplyDeleteIn a nutshell, the thing that gets me concerned about this kid is that he has had 2-3 weeks of intermittent and migratory leg pain resulting in limp that has now progressed to inability to get up from sitting and toe walking. The differential diagnoses for abnormal gait is broad, but given that this patient has had, no history of trauma, normal musculo-skeletal exam, Xrays that were negative, it makes skeletal abnormalities not likely. The history of viral illness several weeks ago making transient synovitis possible but those kids definitely don’t toe walk. Post viral myositis can present with muscle belly tenderness that sometimes can be migratory and is usually preceded by a viral syndrome BUT you shouldn’t get any neurologic symptoms. The H&P seem to point to both a neurologic and a muscular disease process leading me to think of some sort of... (wait for it) ‘neuro-muscular’ disease process.
The description of getting up from sitting to standing, sounds like a classic Gower’s sign which is seen in kids that present with Duchenne’s Muscular Dystrophy (can be seen as early as 3 year olds but usually is more notable in kids ~5-7year old and is a result of progressive hip/gluteal muscle weakness). Classic DMD patients would also have pseudohypertrophy of calf muscles on PE (due to fatty infiltration as well as muscle fiber hypertrophy), which is not mentioned in our exam. But normal CK makes DMD less likely!
The toe walking in a previously normal kid needs a brief discussion. From benign to more severe: toe walking can be behavioral (easily extinguishes). Toe walking can also result from shortened or tight Achilles tendons. Your PE would show resistance/stiffness with dorsiflexion. In the ED, we usually see toe walking as a result of spastic CP from perinatal anoxic injury. I would expect to have a history of toe walking from when they started walking (as opposed to several years after the onset of walking). On PE, CP patients should have ankle clonus when testing reflexes. Lastly, toe walking can be seen in kids with muscular dystrophy, which would make me think about getting neuro consult, given that this diagnosis is a distinct possibility.
Getting back to the case, I put this kid in a category progressive painful neurologic and muscular disease process with concerning abnormalities noted on neurologic exam making me uncomfortable sending this kid home without some sort of imaging or neurology consult. My biggest fear is ruling out something in the lower spinal cord that is causing this relatively acute onset spasticity and hyperreflexia +/- weakness (Gower’s). Dewesh and Sabah’s comments astutely brought up the possibility of tethered cord, the possible diagnosis of epidural abscess because of abnl labs or the possibility of malignancy compressing the spinal cord. Other possibilities include syringomyelia, myelomeningocele (given the V shaped gluteal cleft possibly suggesting underlying undiagnosed congenital neural tube defect) or some sort of spinal cord stenosis that is now symptomatic. Because on-going compression or injury to the spinal cord is a possibility, I would push for emergent imaging (MRI) of the spinal cord that same evening (not as worried about the brain given the neuro exam reported). Definitely get a Neuro consult and I would also strongly push for an inpatient (rather than ED or outpatient) evaluation of this patient since his neurologic symptoms appear to be static or possibly progressive in nature.
Awesome hot seat case! I've only seen one new diagnosis of Duchenne in the ED and it was more a "happy (proximally) weak kid" without any pain components as seems so prominent in this case. This makes me lean more towards something extramedullary compressing the spinal cord and causing all of the upper motor neuron signs (the spasticity with the toe walking, increased local DTR at the knee, lack of muscle wasting; however, the upgoing babinski is not there, but I'm not sure how consistent this sign is with UMN problems...) as well as pain from a compressive radiculopathy. For this reason, I would do the spine MRI that night to look for an abscess/hematoma/metastatic tumor and add on the brain to pick up any tumor that is having drop mets to the spine (would do both as well to minimize the need for sedating twice).
ReplyDeleteThis is really a very interesting case! As everyone, the initial thing I think of is a Muscular Dystorphy:he looks like the typical med school story of proximal LW muscle weakness trying to standup. But then I wonder, why the pain? Also it's quite a rapid progression? What about all this inflammatory markers? Of note though, CK can be normal is some rare forms of Muscular Dystrophy (Yes! I had to look it up). One thing keeps popping in my mind is Guillain-Barre Syndrome: Now, I know it can't be as he still has all his reflexes, even super reflexes! But how I would hate to miss that as it can still present as a subacute presentation, with a prodrome of viral illness... Though it's the scariest thing on my differential, would I go ahead and tap this 3 yo now? No, I don't think so, but I'm definitely not sending him home with progression of neuro symptoms (plus he's already been seen by PMD and then came to ED). UMN disease is something to think of, but why the pain? Note, agree with Paul, Babinski not that reliable if normal for UMN. Also, why was the pain worse with exercise? Claudication? Unlikely in this 3 year old. Could all be from a spinal mass (abscess or tumor) as many have mentioned above: would explain pain, labs, can also explain progressive proximal muscle weakness I guess if slowly getting bigger though I would be specific to the lumbo-sacral region. In conclusion: No I won't send home, Yes Neuro consult, Yes MRI spine tonight or early morning of lumbo-sacral area, neuro exam Q2 hours.
ReplyDeleteLooking forward to the denouement!
Very cool case. Wow, I share almost all these thoughts, and (my attempt at humor -- I don't like it when there are too many things to consider. I don't have that kind of time :). I do see this very much like Dewesh, and when I first saw the positive Gower sign, I did not want to see LE motor exam 5/5. Something there is tripping me, and as Dewesh suggested, do we differentiate here between proximal and distal LE muscles? Also, once we know that the CK units are consistent with what we are looking for and verify that it is within normal limits, we would get into the into spinal pathology. I would also add that with the ESR almost 80 and elevated LDH, malignancy, oseomyelitis (spinal or even potentially in the LE itself should be considered in addition to other infectious etiology (abscess), and even simply inflammation. I will vote for MRI (not stat but within 24 hours, during this inpatient visit), neurology consult for a detailed neuro exam stat. ( I admit, my neuro exam probably sucks, and I would not use it to make decisions!!!!) I am not sure about orthopedics yet(I am not sure if I would do this to get the 10 AM or 4PM spot. We should be able to get an MRI squeezed in within 24 hours without the open spots), and I will also talk with Rheumatology also. Somewhere in there, my concerns also include autoimmune type problems with LE manifestation of systemic inflammation (again that ESR of 79 suggesting problems that may have begun several days ago).
ReplyDeleteI am definitely thinking something major, so I am excluding transient synovitis, growing pains, simple traumatic event, and dehydration.
I considered also GBS (Guillain-Barré syndrome), because, but it is much lower on my differentials list with intact reflexes. I am not yet ready to tap this kid, and this could be done as inpatient after the MRI is completed and everything else is ruled out. So, my thought is to admit to either Neuro (Q2 neuro checks), or gen med with consult with Rheumatology, and wait for MRI findings. Great case. Looking forward to reading the denouement.