Interesting Case

[ERMudPhud]

CC: Syncope

HPI: 11 year old boy with no previous medical care including vaccinations secondary to religous beliefs brought from school after a syncopal episode. He was running on the playground when he suddenly dropped. It appears he had no warning he was about to pass out as he has abrasions on hands and knees. He doesn't recall any presyncopal symptoms. It appears he was out for only a few minutes but was alert by the time the school nurse arrived. There was no seizure activity described and although he may have been confused for a very brief period after waking up there was no prolonged post-ictal state. He is currently without complaints other than the scrapes. When asked about similar events in the past, much to his parents surprise, he describes a number of events over at least the last 6 months. Interestingly, none of these events are syncopal episodes. He describes involuntary muscle movements or spasms lasting minutes which sometimes cause him to fall but never result in lost consciousness. The episodes don't sound like focal seizures. Sometimes they sound like torticollis. Sometime one or both arms may spasm, sometimes one or both legs, sometimes it seems like his whole body spasms uncomtrollably. He denies any recent trauma

Soc: denies drug use. Lives with two parents

PMH: Really unknown but grossly seems to have hit all developmental milestones. He plays for his school basketball team, gets straight A's, and although he is somewhat shorter than average he doesn't appear to be an outlier amongst his classmate.

PE Gen: alert boy in NAD
P84 BP110/60 R 12 afebrile Sat 94% (normal here at 5-6000 feet)
HEENT: completely normal without evidence for trauma
Cor: normal S1S2 no murmurs.normal PMI. normal pulses in all extremities
Chest: CTA
Abd: normal
Neuro: A&ox3, CNII-XII intact, sensory intact, motor 5/5, finger to nose intact, Heel/shin intact, ROM intact gait intact toes downgoing

If there are any other specific things you want on the physical feel free to ask.

What do you want to see first?

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[NinerNiner999]

Do these symptoms occur without activity (at rest)?
History of fever or tick-bite/exposure?
Is BP symmetric?
Rash on exam?
Is there any nystagmus or gaze fixation?
Can you reproduce the symptoms with exertion?
ECHO?
CT brain?

 

[JkGrocerz]

kind of sounds like jacksonian seizures

 

[southerndoc]

Were the abrasions on the palm of the hands? If that's the case, it makes me wonder if he did have pre-syncopal symptoms because he would have attempted to break his fall with his hands. People normally walk with their palms facing them, and they normally run with clenched fists or a variant of it. People who syncope without prodromal symptoms rarely, if ever, fall onto the palms of their hands.

If we go with no prodromal sign at all, then cardiac is of big concern, especially with this being exertional. Aortic stenosis and IHSS/HOCM are two that come to mind. Usually this presents with a murmur, especially at such a late stage that it causes syncope. However, I have heard (no pun intended) of AS and IHSS/HOCM being diagnosed by ultrasound after syncopal events without any murmurs heard at all. One must also keep in mind that this could be a coincidence that the syncope happened during exertion, but usually the two are related.

If these also occur at rest, then prolonged QT syndrome, Brugada, and arrhythmogenic right ventricular dysplasia are of concern.

Also on the lines of cardiac causes is cardiovascular causes. Although this is a younger patient, one must also keep in mind that pulmonary emboli can cause syncope and this should be on the differential. It is not often that we find these in kids, but that could be because we rarely look for them. I nearly missed a massive PE that caused syncope in a twelve-year-old who I failed to get an accurate family history. So I think it's important that we rule out risk factors for PE.

The spasticity/tremors that were mentioned earlier could have been focal seizures. I agree with JkGrocerz that it could be a Jacksonian march. I think a CT of the head without followed by with contrast is warranted to rule out any bleed (that could have caused the syncope) and any tumourous lesions that could have caused the focal seizures.

I think my questions to ask would be:

- Has this ever occurred at rest?
- Has the patient ever experienced chest pain or dyspnea with exertion?
- Is there a murmur with Valsalva or hand grip?
- Is there a history of sudden death in the family?
- Is there a history of seizures in the family?
- Does the patient appear pale to suggest anemia?
- Does the patient have petechiae?
- Does the patient report headaches, particularly early morning?
- Does the patient report nausea, again particularly early morning or upon awakening?
- Is there a family history of clotting disorders?

Ancillary tests I would order:
- Fingerstick glucose
- 12-lead ECG
- Bedside TTE
- CXR if no bedside ultrasound available to rule out cardiomegaly
- CBC for rule out of anemia from a myelodysplastic or leukemic syndrome
- Electrolytes (including Ca, Mg, Phos), Creatinine
- CPK/troponin for rule out of possible myocarditis (less likely)
- CT of the head without followed by with contrast
- EEG

I think my top concerns would be an arrhythmia or with his neurologic complaints, a mass lesion that has spontaneously bled causing syncope. On another note could be a large AVM or aneurysm that is compressing the brain, thus causing focal seizures. I guess we need to figure out if these are true focal seizures or if they are muscle contractions from hypocalcemia due to a markedly decreased cardiac output.

 

[12R34Y]

Were the abrasions on the palm of the hands? If that's the case, it makes me wonder if he did have pre-syncopal symptoms because he would have attempted to break his fall with his hands. People normally walk with their palms facing them, and they normally run with clenched fists or a variant of it. People who syncope without prodromal symptoms rarely, if ever, fall onto the palms of their hands.

If we go with no prodromal sign at all, then cardiac is of big concern, especially with this being exertional. Aortic stenosis and IHSS/HOCM are two that come to mind. Usually this presents with a murmur, especially at such a late stage that it causes syncope. However, I have heard (no pun intended) of AS and IHSS/HOCM being diagnosed by ultrasound after syncopal events without any murmurs heard at all. One must also keep in mind that this could be a coincidence that the syncope happened during exertion, but usually the two are related.

If these also occur at rest, then prolonged QT syndrome, Brugada, and arrhythmogenic right ventricular dysplasia are of concern.

Also on the lines of cardiac causes is cardiovascular causes. Although this is a younger patient, one must also keep in mind that pulmonary emboli can cause syncope and this should be on the differential. It is not often that we find these in kids, but that could be because we rarely look for them. I nearly missed a massive PE that caused syncope in a twelve-year-old who I failed to get an accurate family history. So I think it's important that we rule out risk factors for PE.

The spasticity/tremors that were mentioned earlier could have been focal seizures. I agree with JkGrocerz that it could be a Jacksonian march. I think a CT of the head without followed by with contrast is warranted to rule out any bleed (that could have caused the syncope) and any tumourous lesions that could have caused the focal seizures.

I think my questions to ask would be:

- Has this ever occurred at rest?
- Has the patient ever experienced chest pain or dyspnea with exertion?
- Is there a murmur with Valsalva or hand grip?
- Is there a history of sudden death in the family?
- Is there a history of seizures in the family?
- Does the patient appear pale to suggest anemia?
- Does the patient have petechiae?
- Does the patient report headaches, particularly early morning?
- Does the patient report nausea, again particularly early morning or upon awakening?
- Is there a family history of clotting disorders?

Ancillary tests I would order:
- Fingerstick glucose
- 12-lead ECG
- Bedside TTE
- CXR if no bedside ultrasound available to rule out cardiomegaly
- CBC for rule out of anemia from a myelodysplastic or leukemic syndrome
- Electrolytes (including Ca, Mg, Phos), Creatinine
- CPK/troponin for rule out of possible myocarditis (less likely)
- CT of the head without followed by with contrast
- EEG

I think my top concerns would be an arrhythmia or with his neurologic complaints, a mass lesion that has spontaneously bled causing syncope. On another note could be a large AVM or aneurysm that is compressing the brain, thus causing focal seizures. I guess we need to figure out if these are true focal seizures or if they are muscle contractions from hypocalcemia due to a markedly decreased cardiac output.

It would literally take an act of GOD to get a bedside TEE in a peds patient OR an EEG.

I've never seen either done in the ED.

We could however get a TTE and maybe a neuro consult (maybe) depends on the hours. They probably would see in morning.

later

 

[southerndoc]

It would literally take an act of GOD to get a bedside TEE in a peds patient OR an EEG.

I've never seen either done in the ED.

We could however get a TTE and maybe a neuro consult (maybe) depends on the hours. They probably would see in morning.

later

I'm speaking of having an ultrasound machine available for the ED physician to do his or her own TTE, not a TEE (I'm not concerned about left atrial clots, and there appears to be no evidence to support the need for a TEE to rule out dissection). I'm more concerned with ruling out IHSS/HOCM and taking a limited view of the aortic valve.

An EEG likely would not get done in the ED either.

 

[Febrifuge]

I'll play, just for fun. (With the caveat that all I need at this point is my entire education, so I know there will be at least one spectacularly dumb thing in what I say.)

Southerndoc has an awesome list of questions to ask, and some very fine Holmes-style thinking about the abrasions on the hands. (MudPhud did say "hands," not "palms," but I'd be interested to have that clarified.)

We need some labs and maybe images, but I guess I would go slowly and methodically, explaining everything very carefully. These folks have managed to avoid medical care for their kid's entire life so far, and there's a chance that being too aggressive today might cause them to skip some future care that he will need more urgently. So I'm doing my warm fuzzy psychosocial thing, as I consider what to do next.

So, let's draw a "rainbow" of blood tubes. CBC, BMP, clotting factors, and put a drop in the glucometer so we have a tiny bit of objective info while we wait for the panel to come back. Save the extra tubes, or better yet, just stick an 18G IV in his AC so we can give some fluids if need be (and, in the unlikely event he's getting a CT angio today, the lock is there already). Bedside EKG is a good idea. Bedside cardiac and abd US too. CXR if the US isn't practical, or looks funky in any way.

As a tech, getting orthostatic vitals is a pain in the ass, and 9 of 10 times I'm only doing it because somebody read an article... but let's get them.

If the kid can pee in a cup, that might be illuminating. Sure, he denies drug use, but in a family that hasn't seen a doctor in 12 years or more, you never know what kind of folk remedies might be at work, or what alergies and sensitivities might have gone unidentified. Maybe the episodes correlate to days when mom made her special caramel rolls or something. Doe he eat school lunch, or brown-bag it?

Questions are free, so we'll ask a lot of those. Any family history of epilepsy? Seizures? Also I'm curious if this family has always lived here at altitude, or if maybe they're new to the area.

Looking forward to the next chapter of this one.

Brugada would be one zebra to consider...

 

[EM2BE]

I want to play too. (With my limited education of course.) I would want to see a 24 hour EEG if the one hour was normal (then again, that would be handed off for another dr). I say this because they didn't catch seizures in some kids until a 3-day EEG was done, but 24 hr might be pushing it in this case. Also, was anything mentioned about his talking (slurred, or just isn't talking as much anymore, doesn't seem to comprehend as much as before the muscle twitches started). Also, how his muscles were twitching, who noticed it, and if it was the pt who noticed, did he see the movement or feel it or both? Also, were his parents at all aware of this going on? After 6 mos they probably should know, but that's another story. I definitely agree on the CT of his brain. Also, any indication of hypertrophic cardiomyopathy?

 

[hyperbaric]

As a tech, getting orthostatic vitals is a pain in the ass, and 9 of 10 times I'm only doing it because somebody read an article... but let's get them.

As a former tech, I too had this mentality. Now I know better.

Any other pertinent family history/social activities/religious practices? Any history of rash(es)? Tick exposure?

Sequela(e) of untreated strept crossed my mind, so I'm particularly interested in EKG/echo results (despite the nml exam above).

Would also like to add UA to southerndoc's lab list above.

 

[Apollyon]

Would also like to add UA to Apollyon's lab list above.

Wasn't me. It's southerndoc's good list.

 

[hyperbaric]

My mistake. Credit given.

 

[hornste]

interesting case. I guess I'll add my bit.

In addition to what has already been said, I wonder about these parents that forego all medical care and vaccinations. Withholding vaccinations seems to be a fad these days, but it's my impression that these parents still send these kids for a well child check now and again. Is this lack of medical care too, for religious reasons? Does this religion have any interesting practices we should know of?

I wonder what other strange things these parents are doing to their kids. A strict vegan diet in the child/adolescent can induce severe hypocalcemia, causing the spasms as well as syncope.

Also, what kind of homeopathic/alternative meds are they using. Could there be a tox component to all this? If so, I'd ask about other children in the home as well.

I guess my question list would be:
1. diet
2. alternative meds / treatments
3. sx in other children
4. religious practices/rites

 

[southerndoc]

Not to take away from the discussion, but I will clarify one thing: I do not think Apollyon is an idiot.

 

[Febrifuge]

As a former tech, I too had this mentality (toward orthostatics). Now I know better.

I should clarify, so as not to sound too snotty about it. It usually becomes apparent that the people who are orthostatic are the people who "look" orthostatic -- of course having that confirmation is valuable, and having a hunch is less so. Same deal with being mostly-pretty-sure that the person's fluid volume is fine; you don't know it until normal orthostatics show that you know it.

It's just that having to be the guy to confirm what we're pretty sure we already know is less fun than being the guy who gets to find something cool or helpful. I'm sure you went through the same stages.

And hey, everybody, I said "pee in a cup" first! That's my folksy, relating-to-the-patients way of saying "UA and U-Tox."

 

[DropkickMurphy]

Admit to telemetry unit or, at a minimum, I would recommend a Holter monitor as an additional step.

 

[EM2BE]

As for the orthostats, I agree they are a necessity. Of course that's from my own knowledge that I was one of the unlucky ones in which the test was positive and was told "There is nothing we can do, but here is the diagnosis. Now go home and eat the dream American diet: salt and caffeine." My dentist even benefits from the caffeine recommendation. Oh well, it was either that or alpha blockers, which I didn't want to buy if I didn't have to.

Now back to the patient at hand...very good point about the vaccines and other rituals these parents may be involved in. Any signs of any prior abuse?

 

[igcgnerd]

If the kid can pee in a cup, that might be illuminating. Sure, he denies drug use, but in a family that hasn't seen a doctor in 12 years or more, you never know what kind of folk remedies might be at work, or what alergies and sensitivities might have gone unidentified. Maybe the episodes correlate to days when mom made her special caramel rolls or something. Doe he eat school lunch, or brown-bag it?
Brugada would be one zebra to consider...

ooh ooh let me play. Are there any alternative remedies or supplements this family uses (clover, st john's wort)? Lack of vaccinations and the involuntary limb movement scream zebra. An MRI can rule out most tumor ideas. Could adrenal carcinoma cause intermittent hypertension resulting in syncope and a resulting hormonal imbalance cause involuntary muscle contraction?

 

[ERMudPhud]

Excellent thoughts and questions. I'll try to address the questions first

1. Syncope clearly occurred with exercise. The muscle spasms seems to have occurred both at rest and with exercise but more frequently with exercise
2. No rash
3. no ocular findings/nystagmus
4. Knee abrasions. I can't honestly remember if the hand abrasions were on the palms or not.
5. No chest pain/SOB
6. No murmur even with valsalva etc...
7. No "known" family history
8.No headache
9. No petechiae
10. Not pale
11. For the most part only the patient witnessed the muscle spasms. One episode occurred during a basketball game and was attributed to a muscle cramp. As I said the muscle groups involved were variable and didn't in my mind seem to point to a focal neuro source. sometimes facial muscles, sometime sternocleidomastoid, sometimes varying extremity muscle groups
12. No recent illnesses. No known insect bites
13. No herbals, No alternative therapies, but no well child checks.
14. Typical adolescent american diet
15. Only child of well educated upper middle class caucasian parents

 

[ERMudPhud]

This hospital is a little different from many of your typical academic centers. Lots of resources but not an overwhelming volume. I can get pretty much any imaging study 24/7 and depending on hospital volume I can sometimes get xrays and ct's less than 5 minutes after arrival. I could get a formal TTE or EEG weekdays 9-5 in less than 30 minutes. I never tried for a TEE but I bet I could get one pretty quick 9-5 weekdays as well.

On the other hand, labs still seem to take 1-2 hours. I guess they just take that long to run even if the tech isn't doing much.

So, its a slow school day morning which means I have an EKG in 1 minutes and a CT in less than 10.

What do you see and what do you think

You should be able to pretty much make the diagnosis based on these two images and a quick check of one or two physical findings before any labs are back

 

[augmel]

congential long QT syndrome, maybe Andersen syndrome? I don't know what's up with the CT.

 

[NinerNiner999]

Dehydration with hyperkalemia (peaked T-waves), flattened venticles... ??

 

[southerndoc]

Remember, Anderson is only one type of congential QT prolongation. There is also Romano-Ward. However, Anderson can give you periodic paralysis. (BOTH conditions have been described as misdiagnosis of periodic seizures before since arrhythmias can cause seizure-like activity.)

Also remember that prolonged QT syndrome can either be congenital or acquired. In this case, it could be acquired from a brain lesion.

The CT of the head looks awful suspicious for an "owl sign," common with carbon monoxide poisoning. I can't make out the image enough to tell if there is a mass lesion in the right frontal cortex. I'm not sure if it's the image, my laptop, or me. (Probably the latter!)

 

[southerndoc]

Dehydration with hyperkalemia (peaked T-waves), flattened venticles... ??

Good thought. The T's do look peaked. That's some pretty severe dehydration to cause ventricular changes in the brain.

I forgot to mention another cause of hypocalcemic-induced prolonged QT: hypermagnesemia. However, at such a high level, one would expect the patient to have areflexia and hypotension.

 

[ERMudPhud]

I should clarify. That is a NON-contrast head CT. The bright spots, nearly bone density, are the basal ganglia.

 

[southerndoc]

I should clarify. That is a NON-contrast head CT. The bright spots, nearly bone density, are the basal ganglia.

You definitely can get calcification of the basal ganglia with carbon monoxide poisoning. There's also a familial disorder that can cause calcification of the basal ganglia and cause seizure-like tremors and syncope. Fare's disease I think it's called. Of course, the most worrisome thing is not calcification, but hemorrhage of the basal ganglia, which is usually caused by severe hypertension, aneurysm/AVM, or lightening strike (I don't recall that in the history). There are some metabolic disorders out there that can cause this, but my medical school days are way too long ago to remember those. (Were we supposed to actually remember biochemistry?)

 

[NinerNiner999]

Could be hypercalcemia, hypoparathyroidism, TORCHES infection, or other metabolic/infectious disease. Also suspicious for hereditary inborn error of metabolism, although not likely given patient's age. Genetics consult/referral?

 

[Janders]

How about hypoparathyroidism. My evidence:

History:
The resulting hypocalcemia can be compensated sometimes, but can also present with fatigue/muscle cramps, or numbness/tingling. In severe cases you can get convulsions and mental ******ation. Arrhythmnias can also give syncopal episodes.

Score!


Physical Exam:
I remember that such cases can have cataracts, but after looking it up they can also have scaly skin, hypoplastic teeth, or sx of heart failure.

Does he have any of these?

Rads:
Radiologic findings can include dense long bones and in longstanding cases, calcified basal ganglia.

Score!

Labs:
Labs would probably show low calcium with high phosphorous. And some variation on the whole 1,25-Vitamin D-I forget second year-Cascade, which I wouldn't order in the ED.

What do they show?

EKG
The hypocalcemia can lead to a prolonged QT, which resolves with calcium. I would assume since the treatment of peaked-T's includes infusing calcium, that the lack of calcium might give a peaked-T appearance, but I haven't read anything to support that myself.

Score again! Hat trick!

So, awaiting the results of a BMP with mg and phos... but i think i have a winner. Immediate treatment would be Calcium infusion and cardiac monitoring.

Judge?

 

[hornste]

ECG: NSR @66. nl axis. prolonged QT. peak T's. No ST changes. No hypertrophy/atrial enlargement.
QT = 0.52 RR = 0.9
QTC = 0.55

non-contrast CT: calcified basal ganglia. flattened ventricles. effaced sulci.

Prolonged QT on ECG with a h/o syncopal episodes/muscle spasms is most consistent with hypocalcemia.

Since the basal ganglia are calcified, we'd expect this state to be chronic. Idiopathic hypoparathyroidism/pseudohypoparathyroidism are both associated with hypocalcemia, calcified basal ganglia, and signs of increased intracranial pressure.

DDx:
1. hypoparathyroidism
2. pseudohypoparathyroidism
3. some strange intracranial neoplasm causing the increased ICP & hypocalcemia

-steve.

 

[hyperbaric]

You should be able to pretty much make the diagnosis based on these two images and a quick check of one or two physical findings before any labs are back

Normal digits? Chvostek's sign? Trousseau's sign?

 

[ERMudPhud]

Sorry, had a busy few days.

The EKG shows a long QT which really has three broad differentials

1.drug,toxin, supplement, induce. Doesn't seem likely in this case

2. Congenital long QT. Possible but then none of those syndromes are associated with basal ganglia calcification.

3. Metabolic abnormalities including hypocalcemia, hypermag, hypomag, or hypoK. The brain finding suggest this is a long standing metabolic disorder and my reading at least suggests that basal ganglia calcifications are more often seen with pseudohypoparathyroidism(PHP) rather than other diseases.

He has Chvostek's and Trousseau's signs. His calcium came back 5.4 and ionized calcium 0.6. He spent a few days in the PICU and went home on calcium/vit D supplements with a more detailed genetic work up pending but an initial diagnosis of PHP. The genetics of PHP are confusing even to me with gene imprinting, methylation, epigenetic effects all playing a role in expression of various subunits of a G protein coupled receptor for PTH. There is also a version of the disease, PHP II, in which the genetics are not at all understood. He had none of the other morphologic characteristics or developmental delay usually associated with PHP except possible for slightly short stature. It sounds like there is wide variability in the degree to which the other characteristics are seen.

 

[beanbean]

Great case! Thanks for sharing. Do you think the parent's will follow through with medical care despite their aversion to medical care/vaccines in the past?

 

[southerndoc]

Awesome case!

 

[MountainEM]

rad thread