Практика Shadowing: What is it? Exercise-induced episodic gait disorder in a young boy - Изучайте разговорный английский по видео

Welcome to What Is It?

A new clinical case discussion podcast series.

In each episode we have a real-world movement disorder case, step by step, starting with a history and examination and moving through phenomenology,

neuroimaging, laboratory findings and a final diagnosis.

In fact, What Is It takes its name from a classic section of the Middle Disorder Journal, introduced in 1986 by David Marsden and Stanley Phan,

a space dedicated to careful clinical observation, debate, and phenomenology-driven diagnosis.

In this series, by anchoring our discussions in a detailed clinical description,

we aim to demonstrate that phenomenology and syndromes remain central to diagnosis, even in the era of artificial intelligence.

The focus here isn't on getting to the answer quickly.

It's on making expert reasoning visible, how hypotheses are formed, revised,

and sometimes discarded as new information emerges.

I'm your host, Hugo Morales, and in this episode, I have the pleasure to discuss a case with Professor Shaqib Mohammed,

pediatric neurologist from the Children's Westmead Hospital and University of Sydney.

Shaqib, welcome.

Thank you, Hugo.

So I would like to start by reading the patient's clinical history

and neurological examination findings to her audience

and then I will ask you to describe what you see in terms of the video examination.

Now this is a seven-year-old boy born to non-Consanguineous parents by caesarean section with no significant perinatal events.

He had normal motor and developmental milestones.

He presented with a history of abnormal posturing of the leg induced on exertion from three years of age.

Initially, it involved the right side and subsequently involved the left leg.

He was precipitated by vigorous play and running and lasted for about 30 minutes.

There was no history of seizures.

Interestingly, his younger sibling is a five-year-old boy born by cesarean section and with normal milestones.

He also had similar symptoms involving both lower limbs in the last year.

His episodes were short-lasting and recovered in five minutes.

Both patients were treated with levodopa without any response.

And his parents were neurologically normal and there was no family history of epilepsy.

Now, Shikib, tell me what do you see in the video and if you can describe that to our audience.

Thanks for the clinical background.

So I've got two videos that have been provided to me.

One is at baseline and one is after this child has done some exercise in the form of prolonged walking.

So looking at the baseline video first, what I see is a young boy who is working in a clinic examination room.

His gait appears quite normal.

There may be slight asymmetry in the arm swing, but this video snippet is too small to overdraw any conclusions from the same.

I cannot see any extra adventitious movements.

I cannot see any posturing and he's walking with his feet.

He'll strike in a proper manner.

He's not toe walking.

So that is his baseline video and I can see good facial expression, symmetric arm movements, apart from that slightly asymmetric arm swing,

which I said we shouldn't draw too much emphasis on without seeing him a bit more.

Thank you, Hichke.

And you see the second part of the examination, do you see anything different from the baseline?

Okay.

So now we've got another video which is after he has been made to walk

and jump apparently for some time we don't know the exact duration

but what we can see here is

that his grade has dramatically changed he is walking a bit more slowly still with a relatively narrow base

and good balance but the main striking feature is posturing of both hands as well as his feet.

Slightly asymmetric in the feet, more on the right left, but compared to the left.

But it appears bilateral and it appears to involve the upper limbs as well.

So this is a change and this phenomenology, at least on the video,

appears to be representative of what we would call as dystonic posturing as clinicians.

Obviously you need to confirm that with examining his tone.

I'll just have a quick look again at his facial expression in this second video

and see if we can see anything else.

He was smiling in the first video.

He still is.

So again, we won't overdraw conclusion.

Sometimes when you're given movement disorder videos, you try to bracket everything, whether it is a dystonic smile or remissing, but I don't think we can say that.

But what I couldn't say is after exercise, this boy who previously had a normal gait has now got a asymmetric

but generalized dystonic gait and dystonic posturing of the upper limbs as well.

Thank you, Shakib.

Now I'll give you more information about his examination.

He had normal cognition, as per reported in the study.

Cranial nerves, no motor and sensor examination were unremarkable.

Reflexes were preserved and there were no pathological reflexes or spasticity.

And importantly, there were no caeser or fleischer rings.

Now with this information on hand, can you just build a syndrome in terms what you saw and you know about examination?

Okay, we have some background history.

We have seen the videos and now we have got this additional information.

Just to recap, his early history is thought to be normal and he has an onset of exercise-related dystonia, which we've seen in the video,

from three years of age.

As far as we know, this hasn't been associated with epilepsy or a cognitive decline.

And these are important things to note that as far as we know, he doesn't have neurodevelopmental problems, a neurodevelopmental delay, and he has not got epilepsy.

So what we are left with is a predominant history of episodic dystonia.

And then when you're confronted with that history of something that is episodic or paroxysmal,

then we try and see what are associations with triggers and with relieving factors.

So we know that with exercise these episodes come on

and that's been the history and that's what we have seen in the video.

So with the amount of information we have what I would say is

that it is a suggestion of paroxysmal exercised induced dystonia in a child who's otherwise intellectually normal,

doesn't have a history of epilepsy and has got a history of similar disorders in a younger brother.

Yeah, so now we have the syndrome,

so paroxysmal exercise and dystonia with other normal and neurological examination, but with a family history.

I'll give you some results on vestibulations.

He had a normal full blood count, including glucose, renome, and liver tests, including cerebroplasmin and pneumonia.

and he had also lactate that was elevated to 34 milligrams of deciliters with the maximum being 19 to 20.

Also, he was tested with organic amino acid profile that was reported to be normal.

He had a CSF where the glucose levels were also normal.

Now with this in mind, now that you have these results, where this syndrome is you think would be heading to?

What are the clues here that could help you with their diagnosis?

Again, we have some additive information.

I would just mention something I forgot is negative history.

So I think the time of the day when these episodes happen, any relation to fasting or not would also be important in this case.

Particularly things that happen early in the morning, we'd be worried, wondering about problems with glucose transport.

But at the same time, now that we've got the information, the CSF glucose is normal, which would make glucose transporter deficiency unlikely.

We also are given a blood lactate level that is high and a minor acid profile that is normal.

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Wilson's disease can mimic many things, and we know that the absence of casia-fisher rings,

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normal fibrilloplasmin, would make this very unlikely to be a neurological manifestation of Wilson's disease.

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So there are some things that we think would be unlikely.

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At the same time, I think we have to now come back

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and see with his history what are our major differentials and has this helped us or not.

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So with this boy's history so far and looking at the video.

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With paroxysmal exercise-induced dyskinesia, thinking about what are the main causes that are associated.

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These include glucose transporter deficiency and some individuals who manifest with GTP-cyclohydrolase deficiency.

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For those disorders, glucose transporter can be ruled out with the information we've given.

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If we do not have CSF monoamines, then we cannot rule out GTP cyclohydrogenase deficiency based on that.

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But the absence of levodopa response would argue against that being the case.

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Then we are left with other groups of disorders that can have exercise-induced dystonia.

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Practically most of them would be associated with some neuroimaging changes, and they would help if we were to explore that.

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Before we go into that, obviously the marker, the blood lactate being high, may be suggestive of some disorders that involve energy metabolism.

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It would be more reliable if we saw an elevated CSF lactate and possibly a CSF pyruvate.

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But that's what we are left with at the moment, that we don't think this is glucose transporter deficiency.

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Unlikely that this is GTP cyclohydratase deficiency with the lack of levodopa response, but it could be some of the other differentials

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that involve energy pathway metabolism or a minor acid metabolism that we may get a clue from looking at mirror imaging.

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Yeah.

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So I can see that you have formulated some hypotheses about the syndrome base or what the evidence that you have,

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including the lactate, but also the negative findings from the test.

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Now I'm going to give you the results of the brain MRI, but I'm going to ask you to describe the findings.

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So we had the brain MRI of the Prevent and the younger sibling.

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So can you tell us what you see here so audience can picture mentally what's happening on the brain?

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Yes.

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So I've been given two images.

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These are axial T2-weighted images for the sibling and an axial T2 flare, which appears to be for the proband.

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So looking at the proband images, remembering that this child is now in the late first decade of life,

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we can see a hyper intense signal in both the globipallid eye.

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And this is the area that is pointed out with the arrows.

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At this age in the late first decade, normally the progression of MRI signal is that we all start accumulating iron.

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And compared to the neighboring putamen, the globus pallidus should appear darker.

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It should not appear brighter like you see in this case.

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So that is clearly abnormal.

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It is nearly symmetric appearing.

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Then when we look at the younger sibling, this is also an axial image.

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This is a T2 weighted image and you see a similar finding, possibly some cystic change at the very anterior part of the globus pallidus,

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but you do see very symmetric hyperintensities in the globus pallidus.

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So again, the sibling is now five years of age and at this age, this would be abnormal.

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The globus pallidus should be similar intensity, if not a little bit darker, depending on the magnetic strength of the MRI compared to the neighboring putinian.

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Now we have a childhood on sex proxysmal exercise in dys

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dystonia with a normal brain MRI with a specific lesion and the pallidum.

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Now with this combination, what are your three top differential diagnosis?

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Yes.

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So this narrows down our differential list significantly.

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And if we combine the clinical presentation of this patient with the MRI,

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the three major differentials that we are left with are monogenic disorders that lead to pyruvate B hydrogenase complex deficiency,

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disorders that can lead to problems in valine, which is an amino acid metabolism,

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and disorders that can lead to GABA pathway disorders, particularly one called succinic semi-aldehyde dehydrogenase deficiency.

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So if you intersect the clinical presentation and the MRI, you're left with those three main differentials.

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Thank you, Shikhi.

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Now, I'm going to reveal the final diagnosis of this patient.

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So based on whole exome sequencing,

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the patient had two pathogenic variants on the gene of ECHH1,

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which is mitochondrial short-chain enoil coenzyme A hydratase 1 deficiency,

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which is a recessive disorder that can lead to this presentation.

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The parents of this patient had a genetic analysis.

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The first variant was observed in the mother, which is an exon 5, and the second on the father, which is the exon 1,

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which confirms a recessive inheritance.

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Now, I'd like to take the opportunity to give a take-home message based on what you have described to us, Chagib, is, and this is very important in clinical phenotyping,

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but also in the clinical setting when you see these patients coming to your clinic.

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So categorizing the pattern of paroxysmal dyskinesia based on triggers can help to generate a list of potential differential diagnosis and etiologies.

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But also, the presence of abnormal neuroimaging findings can point to certain neurovetabolic disorders, as you pointed out.

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One, it could be mitochondrial, but also let's not forget organic aciduria, as methylmagnolic aciduria can also have similar presentation.

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If you're interested in more details about this case, this case was published in Annals of Indian Academy of Neurology Journal.

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The title is Parxysmal Exercise in Dyskinesia in Siblings Due to ECHS1 Gene Mutation, First Indian Case Report.

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Thanks again for listening and still there for the next What Is It episode.

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Thank you very much, Shakif.

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Thank you.

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Thanks for having me.

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The views

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and opinions expressed by the participants in this podcast do not necessarily reflect those of the International Parkinson

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and Movement Disorder Society or their affiliated journals movement disorders, and movement disorders clinical practice.

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Any disclosures of the participants can be found within the episode description located on the MDS website.

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Практика Shadowing: What is it? Exercise-induced episodic gait disorder in a young boy - Изучайте разговорный английский по видео

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Что такое техника Shadowing?