Практика Shadowing: What is it? A young boy with deafness and twisting limb movements - Изучайте разговорный английский с YouTube

Welcome to What Is It?, a clinical case discussion podcast series.

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Welcome to What Is It?, a clinical case discussion podcast series.

In each episode, we dissect 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.

The focus here is not 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'm discussing a candidate with Associate Professor Highway Tan,

Movie Disorder Specialist at the University of Malaya in Kuala Lumpur.

Highway, thank you for coming today.

Thank you very much for inviting me, Hugo.

It's a pleasure having you here.

Now, I will start by reading the patient's clinical history and neurological examination findings to our listeners.

And then I will ask you to describe the phenomenology of the patient's video.

Now, let's go to the case.

This is a 21-year-old right-handed Filipino male who presented with a

progressive writing difficulty due to hand twisting starting at the age of 14, followed by involuntary neck movements shortly after the hand.

Despite these, he finished school and was able to participate in sports.

At the age of 18, he developed involuntary jaw movements.

His prenatal and early developmental history was normal.

His older brother also had some problems with hearing as this patient had and developed abnormal limb posturing at age 16.

So overall, this is a patient that presented progressive writing difficulties, neck and then jaw, in the context of hearing loss.

There's no history of tremor, Parkinsonism, dystonia, or dementia in the family for at least the last three generations.

Their maternal grandmother was from Panay, the Philippines, but she had no relatives with dystonia or Parkinsonism.

And the examination of this patient showed a normal mental function.

He had a MoCA test score of 12 out of 30 and a mental of 22 out of 30.

The eye movements were normal.

Motor strain power is normal as well as reflexes and sensor examination.

He had normal fundoscopic examination.

However, there was a profound bilateral sensory neuronal hearing loss.

Now let's go to the video highway.

What do you think what we seen in the video and can you describe the phenomenology for us, please.

Yeah, thank you very much for sharing this interesting case, Hugo.

So when we see it in this video,

when seated at rest, this young man had a sustained abnormal posture and movement involving predominantly his upper body.

These movements are patterned and repetitive,

some with a twisting nature and some especially the neck and the upper lean movements worsened with involuntary action.

Based on this, the main phenomenology we see in this video here is dystonia.

Now on a closer look, we see this young man also has a jaw-opening oral mandibular dystonia.

He has a cervical dystonia characterized by an anticholus and in some segments of the video, a right tauticholist as well.

His right upper limb seems to be hyperextended at the elbow with dystonic posturing of his fingers,

while his left upper limb is flexed at the elbow and hyperextended at the wrist,

with his left hand mainly in a fisted position in most segments.

His left upper limb movement, I must say, is somewhat less predictable at times

and also irregular compared to the other movements we see in other parts of the body.

And this is especially so at the proximal joint or the shoulder joint.

And when we also start thinking of a possible choreobalistic movement here,

and I think that further examination of the left upper limb will be warranted as well.

But taken together, the main phenomenology that we see in this young man is dystonia,

predominantly involving the lower face, the neck, and both the upper lins.

Thank you, Haiwei.

Now, thinking about the distribution of dystonia and when you're mentioning about the oromandibular dystonia,

so what are you thinking in a 21-year-old with oromandibular dystonia?

What evocative diagnostic pathways would you think in these cases?

Yeah, certainly the body distribution of dystonia is an important note.

Here we see a predominant upper body involvement with very prominent oral mandibular dystonia.

Now there are several conditions that can present with very prominent oral mandibular dystonia.

Acquired causes like Cardiff dystonia can also present with oral mandibular dystonia and let's not forget that.

But there are quite a long list of genetic disorders that can present with prominent oral mandibular dystonia.

And I want to first mention the treatable Wilson's disease.

Let's not forget this in this context.

Secondly is also the neurodegenerative brain ion accumulation disorders such as PECAN

and then also inborn error of metabolism such as GM1 gangliocytosis and also glutaric aciduria.

Now we also need to consider other genetic dystonias that can commonly present with predominant oral mandibular dystonia involvement including KMT2B,

BRKRA, TAC1, ATP1, A3 and VBS16.

Now, not to forget X-linked dystonia Parkinsonism.

Here, I'm particularly mentioning this because in the history, we were told that the maternal grandmother is from Penne,

Philippines, and we know that X-linked dystonia Parkinsonism

or XDP is an X-linked dystonia where it has been exclusively described among male individuals from Penne.

However, in XDP, usually they present at an older age of onset,

probably early to mid-adulthood, and they do not present with deafness,

such as in this case where the patient also has early childhood onset deafness.

I like your approach with the differential diagnosis based on the phenomenology.

And before moving to the results of the first line investigations, the presence of these symptoms,

the distribution, the family history, this is something that straightforward makes you think of this is most likely genetic as opposed to acquire.

And perhaps this is relevant in the context of any patient with dystonian deafness.

One of the most common things of this combination is ketnictures.

This patient that didn't have any history of that.

Now we're heading into this genetic diagnostic category.

I'm going to give you the results of the investigations that can help you to delineate what your differential diagnosis.

The liver, renal, and hematological tests were normal.

Seroloplasmin and copper were normal.

Alpha-fetoprotein was normal.

He had a brain MRI that was reported to be normal, and this is the case in the report.

Additional investigations include nerve conduction studies with electromyography, which were also normal.

An EEG and auditory evoked potentials showed absent responses bilaterally.

So this is something that supports your diagnosis or the deafness.

Now you have this construct of your syndrome with negative or normal investigations.

What then is the next step to support your diagnostic hypothesis?

What test would you like to request in this case?

Yeah, thanks very much, Hugo.

Maybe we can probably discuss a little bit more about the approach to this case.

Besides looking at the body distribution of the dystonia,

I think you have mentioned age of onset and family history is quite important.

And here we have an adolescent onset case with a positive

family history with an older brother having the same deathless dystonia syndrome, making a genetic cause more likely.

Now, when it comes to the family pedigree, it looks like the syndrome only affected one single generation in this family.

And this might indicate an autosomal recessive pattern of inheritance or autosomal dominant with reduced penetrance.

Or as both affected individuals are male, then X-link disorders need to be also considered.

Now, an important note to look out for in a family pedigree for X-link disorders is

that there should not be any male-to-male transmission, or i.e. the father passing the genetic traits to the son in the family.

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And if we think about X-link related disorder that cause deafness dystonia syndrome,

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we are thinking about Maltronavir syndrome or another hypomyelinating disorder such as BPA disorder,

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which can present with very severe intellectual disability.

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Now, besides the age of onset and family history and body distribution in dystonia,

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it's always very important to look for other associated features such as other movement disorders such as Parkinsonism or myoclonus,

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the presence of developmental delay,

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learning difficulty or cognitive decline or epilepsy as well as vision and hearing loss in the dystonia cases we see in clinic.

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And in this case, patient did have a combined dystonia.

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And here we are looking at a deafness dystonia syndrome.

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As you have mentioned, it's important to make sure this is not an acquired cause,

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like a perinatal insult, such as hypoxic ischemic injury, conicterus or neonatal infection in the past.

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And then we can also look for any presence of facial dysmorphism

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that may suggest other deafness dystonia syndrome such as ACTB disorder.

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The other group of diagnosis related to deafness dystonia syndrome will be our mitochondrial disorders or inborn error metabolism such as mectal,

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methamalamic acidemia, as well as LAR2.

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And these patients sometimes can have fluctuations in their mortal conditions, recurrent encephalopathy, for example.

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And I think this is an important point to look out for.

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And also not to forget the Woodhouse-Sakati syndrome that presents with alopecia diabetes as well.

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So I think that in terms of the investigation, The first step will definitely be to have an MRI brain of the patient.

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And you mentioned that the MRI brain is normal.

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And this is really quite helpful.

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As I think that as we have mentioned in our differential diagnosis, it's very important to rule out mineral deposition disorders,

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copper or iron, as well as to make sure that we didn't miss a hypomyelination signs in the brain

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and also basal ganglion lesions that are associated with mitochondrial or inbound error of metabolism.

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I think it's also very important to always make sure

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that we have done a Wilson screen and your cereloplasmin result is negative.

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So taken together with this investigation,

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a good next step will probably be considering genetic testing in men.

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Now I'll give you some results.

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In genetic testing, both brothers were negative for the disease's specific exline dystonia Parkinsonism haplotype.

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So that was exclude.

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And sequencing or a gene, which is a team MM8A,

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revealed adenine 2-1 intransition occurring in the first nucleotide of exome 1.

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This mutation was not present in the exome aggregation consortium.

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So it was considered to be pathogenic.

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So therefore, they confirm the diagnosis of the more tronic gerf syndrome.

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And here the takeoff message is that within the syndrome of deft and dystonia,

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this can be acquired genetic and the genetic etiologies can have further syndromic associations, including the dementia, cognitive decline,

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imaging abnormalities, serum biomarkers, and systemic signs.

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This case was taken from Mood Disorder Clinical Practice.

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The title is the first report of a Filipino with Moth-Tanichirp syndrome in 2015.

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Thank you very much, Highway, for helping us to discuss this case and highlighting the approach of this syndrome.

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And to our listeners, hope to see you the next time in the next case.

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Thank you very much.

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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 Disorders 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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you

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