ENT Manifestations Of The Mucopolysaccharidoses (MPS)

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Ear and Hearing Manifestations

Dr. Anna Sophie Hoffmann: So what kind of problems do you see in MPS? Often those kids have narrowing of the external auditory canals, which leads to chronic otitis externa. So here on the left side you can see just a regular eardrum with no efeffusion; it's just totally fine, no infection of the outer external ear. And here in the middle you can see it's very swollen; it's little red, and on this side you can see there is a chronic otitis externa.

And often you also have fluid, and it's it's infected, and it's not really easy to treat it. Because sometimes it's very aggressive and it takes a long time to treat it. So then you have the kids with the ear efeffusion, the middle ear efeffusion. Then with chronic inflammation of the middle ear. Here I show you one of the pictures when you have a chronic inflammation of the middle ear which stays there for longer time and all the time if fluid comes out, then it becomes a hole in the eardrum or a perforation in the eardrum becomes bigger and bigger and stays there for for a long time, which is also not very good because it predicts often infections of the middle ear.

Then in some of those children you see the deformation of the ossicles, especially the stapes, and very rarely you see thick mucosa and granulation in the middle ear. Then what kind of therapeutic do options you have for those? For the outer ear infections, externally infection you can use local antibiotics. But for the ear ineffusion, you need to have very usually very soon after your diagnosis, ventilation tubes.

Why? Because here on this slide you can see most of the kids have big adenoids and those are blocking the eustachian tube which is here. And when on this picture you can already see I choose a picture where you have already an infection. And here you see the the mucosa is very and swollen because of that there will it's not really a possibility of a good ventilation in the middle ear.

And that's when the efeffusion starts to to build. And when you have here in the middle ear the efeffusion, um those kids have conductive hearing loss meaning that you can't really get a good hearing from the outer ear into the inner into the inner ear because here is a lot of fluid. And what you can do for that You make a myringotomy.

Meaning you cut the eardrum and then you place a tube in it. There are different styles of tubes here. You can see a titanium tube which we use all the time in the beginning with the kids because first those are very easy; they fall out after six months, and then you usually don't have any problems with the eardrum.

When you continue to have problems, you usually use a T-tube which is made out of glass silicon, and those stay in longer. But you have to take them out depending on how old the kids are under anesthesia because it hurts a little bit. And sometimes when they're in there very long, they leave a little hole, and this hole doesn't close by itself, and it has to be closed.

So when you optimize the ventilation of the middle ear, this is very important. This does not automatically normalize The hearing ability. Often, those kids make a little jump in their in their hearing process, meaning suddenly they they speaking better, they are hearing better.

But this is um this often is not really am helping with their like the actual hearing ability because they don't have only conductive hearing loss; they also have But this is this often is not really am helping with their like the actual hearing ability because they don't have only conductive hearing loss; they also have sensorineural hearing loss.

So the clinicians, especially the ENT doctors, should not delay considering hearing aids for the MPS children. It's very important and it's something thing I want to also give the pediatricians in the audience that you really look for that. Um, it's important to use the hearing aids as early as possible. hearing loss. So the clinicians, especially the ENT doctors, should not delay considering hearing aids for the MPS children.

It's very important and it's something thing I want to also give the pediatricians in the audience that you really look for that. Um, it's important to use the hearing aids as early as possible. So the inner ear and MPS children seems the hearing loss seems to increase with age. And you have a high variability. We don't really know the etiology has been discussed, but it's still unclear.

Is it an infiltration of the cochlear duct, the stria vascularis, or also the cochlear nerve afferents? We don't really know that why. So the management of hearing loss to conclude this and to keep it in your mind is close observation as soon as you see any efeffusion send it to an ENT doctor and then the management is as follows: It will be surgical.

And we at the University Hospital in Hamburg we usually see those children in the pediatric department. My colleagues see them there every year, and they have a yearly follow up. But of course they are supposed to see in between their local ENT doctor to have a look if the Are ventilation tubes still in, or if they if they are blocked, or if they have already been fallen out?

And then the second point in my presentation is the nose. Often those children also have nasal obstruction. Where does it come from? Here I gave you a coronal CT scan, and you can see in this patient he has a hyperplasia of the inferior turbinate. Sorry, of the inferior turbinate, which also makes often the problems that they are that the breathing through the nose is very hard for them.

Then those patients have recurrent nose infections and sinus infections. Here on the second CT scan, I showed you one was a sinus infection of the left maxillary, and those kids seem to have often those problems with the infections, and of course the adenoids when they are very big they block also the the flows through the nose, and it's also kind of obstructed because of that.

And what can you do against that? To do the treatment options in this case, of course the adenoids have to be removed. And with the nasal obstruction, there are different possibilities: either you can use a cautery, or we can use radiofrequency ablation, which also shrinks the mucosa. So and then when you go to the next point, the throat or the mouth.

Here one of our patients I show you it's here is actually the typical signs. Here you see the thickened lips, the gingival hyperplasia with gapped teeth, and then they have the macroglossia; those are the bigger tongue. And on the one of the next pictures I show you the tonsillar hypertrophy, which is also of one the problems because they can't really open the mouth how they should open it just because of this huge tongue and which comes to the next point, it's not very easy to intubate those children and that's also always the one of the points I really recommend doing surgeries on MPS children in a university or like in a specialized hospital where everything was everything is well known and the possible risks are also known by the anesthesiologists and they know how to handle them.

Respiratory manifestations there I show you one of the tables from Müllebach et al. And here you see the key respiratory manifestations in the different MPS types. You can see one and two; they have upper, lower, and restrictive lung problems. In three, they are all minimal. And four, the upper and the lower are also not that high. And in six and seven, they're again more manifested.

So often those children have sleep apnea, significant upper airway obstruction, hypertrophy of the the adenoids and the tonsils, and the thickening of the mucosa, and often also indurations of the base of the tongue, the hypopharynx, and the larynx. So this is very important, not only because of the sleep apnea but also in regard of having anesthesia in the future for those children. So I'm finished now with the ENT problems and the ENT manifestations, and now I choose three children I've seen in our outpatient center.

Case Studies

And the first one, the six-year-old boy. The history is he has MPS type one. His initial diagnosis was made in December two thousand fifteen. He had a bone marrow transplantation in July two thousand sixteen, so half a year later, and he has a hypoplasia of his dens axis. He has a cervical spinal stenosis. He has a global development delay, and he was hospitalized because of a pneumonia in February two thousand fifteen, and herniotomy on both sides also in two thousand fifteen.

And here you can see the ENT visits he had. And first, he came in also it was sometime in I think June two thousand fifteen. And he had middle ear efeffusion on both sides. And um he was only a year old by then, so we decided okay, we put ventilation tubes in on both sides. A year later they fall out and um we did the same procedure again.

And he had adenotomy and ventilation tubes. And on the audiogram here, where I show on my arrow, you can see the hearing is actually very bad on this case. We also did OAEs and BERA, which also showed he has not only conductive hearing loss; he also has sensorineural little Sensorineural hearing loss, not that bad, but still enough to supply him with hearing aids.

So in 2017, the ventilation tubes they were not not in anymore, and we decided to put in T-tubes. And here in the tympanogram, you can see it was all the time very flat again after they have fallen out, and this is the reason or that's the reason he had to have again ventilation tubes. In 2018, you can already see his hearing in the testing has improved, and he is only at forty decibels anymore.

And the rest usually normal a normal hearing is between twenty and thirty, usually in children, and the rest they optimized with hearing aids in this case. But this was not the end of his ENT problems. He showed 2018 a cholesteatoma on the right side. He had tympanoplasty in 2018 with atticotomy without reconstruction, so we didn't reconstruct the ossicles.

And because usually when you have a big cholesteatoma, you first take out the cholesteatoma and then you reconstruct after six months or after one year. So in one year later he had the revision tympanoplasty and again also the atticotomy and mastoidectomy, and it was still not reconstructed his hearing. So that's also the reason why his hearing is again pretty low on this.

Audiogram because there is not really a possibility from the eardrum to get into the inner ear because the ossicles have not been reconstructed. So in 2020 he showed again a recurrent cholesteatoma and he had it was very small, but he had revision tympanoplasty and he got a PORP. What is that? That or type 3a? That's a partial ossicular replacement prosthesis.

So everything the from ossicles which was destroyed by the cholesteatoma was taken away and just part of the ossicles were replaced by prosthesis. And after that now he is with 60 decibel. He has 70 percent of hearing so that's actually okay. And with the hearing aids we get him probably to 80-90 percent of hearing. Here you have a picture of him right after the surgery I took, where he has still the bandaid on his ear and he was very.

It's a very happy little boy, and hopefully he will be fine with the last surgery now. The second case report is a nine-year-old boy. His history is: he has an MPS type three C and has aortic and mitral regurgitation grade one tricuspid regurgitation grade three, and his initial diagnosis was in January two thousand fourteen when he was three years.

He has also developmental delay, and in his case, he had also middle ear effusion ventilation tubes and adenotomy in two thousand thirteen. We found sensorineural hearing loss. As you can see here in the BERA, he has a threshold about 50 decibels. So we optimized his hearing with hearing aids, but he keep kept on having problems so with breathing and with um with his ears.

So he had tonsillectomy. This means we smaller the tonsils; they will not be taken out like in total, just part of it. And we did again an adenotomy and put in T tubes in November 2017. And the last visit, which was just a few weeks ago, he had near no effusion on the right side. There was no T tube in there anymore, but still no effusion.

And on the left side, the T tube is still in situ. And the last case report is a 10-year-old girl, and in this case, you can see that you don't have to have sensorineural loss, but she has axis dysplasia, she has allogenic bone marrow transplantation in March 2012, and she has spinal canal stenosis, hip dysplasia, X legs, and carpal tunnel syndrome.

Her first ENT visit showed she had also middle ear effusion, snoring, possible obstructive sleep apnea syndrome, and she had ventilation tubes and adenotomy in February two thousand twelve. The same thing with added tonsillectomy about a year later, and then again the whole thing again one year later in two thousand fourteen, and then again and again as you can see.

So it's very often visits to the ENT, and all the time those are the same problems with the adenoids; they are growing again, and they make the problems with the effusion in the ears. And so the last one was in two thousand eighteen, and since then she doesn't have any problems anymore. The T-tubes are still in, and that's the reason why it's not perfectly overlapping the curve, but you can see her inner ear is working perfectly, and there is just a little conduction here from 10 decibels.So that is also quite acceptable and she can hear pretty well.

This was the one just in that one was in 2018 and here one which is from this year from July 2020. And here you can see it hasn't really changed and the inner ear is still very good in this girl. So I'm at the end from those case reports and I will just give you one little introduction to one of the things I'm trying to do a little research in in our department together with the pediatric and Nicole Mushal, which is the The head of the department at our pediatric clinic, and the aim of our like we want to find out the smell and taste disorders in children with MPS. And the aim of the study was to investigate or is to investigate.

Questions and Answers

And that is actually the end of my presentation. I thank you very much for listening, and I'm now getting into the chat channel to be able to answer questions. So the first question which came from the audience, I will read for you: Is what setting is most appropriate for treating MPS patients with ENT problems? General hospital settings or specialized centers?

And as I told you, in my opinion, it is extremely important to filter those patients with MPS, and of course they can see their local ENT for follow-up, but for surgery and for for

Also for diagnosing often and for helping with indications, I think a hospital which is specialized for MPS is important. So in our case, we have patients from definitely the whole north and also from some of them are coming even from the south of Germany just to see our pediatric department. they then were referred And to us and often they have the surgery at our hospital.

There is a question. Also, what is the most appropriate age for tonsillectomy in MPS patients? So we usually do not do that often tonsillotomy. We usually do tonsillotomy first because there has to be a strict reason why you take them out. So for tonsillotomy, we usually you can you can start with one year or with two years.

And it's often first it helps to take out the adenoids. But if you can already see that the the tonsils are touching, I would definitely recommend doing a tonsilotomy for better airway and for um for everything also for speech and for swallowing and all of that. So there's the next question. Do you recommend use of leukotriene antagonist for running nose in MPS?

I, I don't do it. I usually try to find the reason and try to optimize that. And but for myself, I don't do leukotriene antagonists most of the time they don't really have the runny nose; it's more the stuffy nose. And we um I tell the parents to kind of clean it and use a nasal rinse to get it better.

But when the inferior turbinate is very hyperplastic, um very big, it's very hard sometimes um to get better um like less obstruction. One more question: Would you recommend total tonsillotomy at the first time. To repeat that, no, I definitely don't recommend tonsillectomy. I recommend tonsillotomy and no tonsillectomy, so partial tonsillectomy. Yes. And the next question is: after tonsillotomy, how often do you find the tonsils return to their previous size?

Do you then do another tonsillotomy? And this is the same thing with the adenoids, that we often see that they have re-adenoided. So again, they have been grown again, and the same as was the tonsils, they have been growing in between, and we have to do a retonsil, a tonsillotomy again, and the same with the adenoids. So the next question is: Are there distinctive ENT signs of MPS between the different MPS types?

And this is not very easy for me to answer. I, as I as I've shown this one tablet, you can see some of them have milder signs and some of them have stronger signs. But and one one of the things which is also not or I haven't really explained because it's not really we we don't haven't really found it out is does the ERT help with the infections?

Yes or no? In some patients yes, because of the ERT they have less infections, but it doesn't help with, for example. Future sensorineural hearing loss. In my mind, I'm not sure about the transplantation. If this is done very early, if this is help helps or not, I'm not into this research and I'm not the perfect specialist on answering that questions.

But as I read in one of the papers, is that it's there is a possibility of helping the progress of hearing loss in transplanting or in bone marrow transplanting? Okay, then there are no further questions from the audience, and I thank you for listening. And I would like to end the webinar right now. Bye bye. Okay.

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