NANOSNET

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/27/2025 4:39:00 AM
From: Sherif Ahmed Kamel Abdelbar
Subject: RE: Pédiatric case

I see cases of nutritional optic neuropathies that resemble very mild ch mitochondrial disease but neurological manifestations does not mount to myelitis really , they are related to vitamin b deficiency as it is known , may there is a compromised immunity also so just do virology labs and of course add CoQ10 and vitamin B to treatment as I always do in nutritional cases , in which I don't use steroids 

Sherif 

Sent from Yahoo Mail for iPhone

Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/27/2025 7:10:00 AM
From: Scott Forman
Subject: RE: Pédiatric case

Don't forget to add Zinc

+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=

Scott Forman, MD

Senior Fellow North American Neuro-ophthalmology Society

Adult and Pediatric Neuro-ophthalmology

Comprehensive Ophthalmology

Functional Medicine

Original Message:
Sent: 6/27/2025 4:39:00 AM
From: Sherif Ahmed Kamel Abdelbar
Subject: RE: Pédiatric case

I see cases of nutritional optic neuropathies that resemble very mild ch mitochondrial disease but neurological manifestations does not mount to myelitis really , they are related to vitamin b deficiency as it is known , may there is a compromised immunity also so just do virology labs and of course add CoQ10 and vitamin B to treatment as I always do in nutritional cases , in which I don't use steroids 

Sherif 

Sent from Yahoo Mail for iPhone

Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/27/2025 8:09:00 AM
From: Michael Carper
Subject: RE: Pédiatric case

If I suspect nutritional, in addition to the B vitamins you mentioned I'll also get Vit A, E, B1, Cu and Zn to cover the sensory ataxias as well.

Regards

Michael Carper MD

Original Message:
Sent: 6/27/2025 7:10:00 AM
From: Scott Forman
Subject: RE: Pédiatric case

Don't forget to add Zinc

+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=

Scott Forman, MD

Senior Fellow North American Neuro-ophthalmology Society

Adult and Pediatric Neuro-ophthalmology

Comprehensive Ophthalmology

Functional Medicine

Original Message:
Sent: 6/27/2025 4:39:00 AM
From: Sherif Ahmed Kamel Abdelbar
Subject: RE: Pédiatric case

I see cases of nutritional optic neuropathies that resemble very mild ch mitochondrial disease but neurological manifestations does not mount to myelitis really , they are related to vitamin b deficiency as it is known , may there is a compromised immunity also so just do virology labs and of course add CoQ10 and vitamin B to treatment as I always do in nutritional cases , in which I don't use steroids 

Sherif 

Sent from Yahoo Mail for iPhone

Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/27/2025 8:18:00 AM
From: Marilyn Kay
Subject: RE: Pédiatric case

And look for why she is not taking in enough nutrition to be healthy at her age....anorexia??

Original Message:
Sent: 6/27/2025 8:09:00 AM
From: Michael Carper
Subject: RE: Pédiatric case

If I suspect nutritional, in addition to the B vitamins you mentioned I'll also get Vit A, E, B1, Cu and Zn to cover the sensory ataxias as well.

Regards

Michael Carper MD

Original Message:
Sent: 6/27/2025 7:10:00 AM
From: Scott Forman
Subject: RE: Pédiatric case

Don't forget to add Zinc

+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=

Scott Forman, MD

Senior Fellow North American Neuro-ophthalmology Society

Adult and Pediatric Neuro-ophthalmology

Comprehensive Ophthalmology

Functional Medicine

Original Message:
Sent: 6/27/2025 4:39:00 AM
From: Sherif Ahmed Kamel Abdelbar
Subject: RE: Pédiatric case

I see cases of nutritional optic neuropathies that resemble very mild ch mitochondrial disease but neurological manifestations does not mount to myelitis really , they are related to vitamin b deficiency as it is known , may there is a compromised immunity also so just do virology labs and of course add CoQ10 and vitamin B to treatment as I always do in nutritional cases , in which I don't use steroids 

Sherif 

Sent from Yahoo Mail for iPhone

Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/28/2025 2:01:00 AM
From: Robert Saul
Subject: RE: Pédiatric case

Is the myelitis preferentially involving the posterior columns on the MRI?   Methylmalonic acid & homocysteine levels? 

Robert Saul, MD

Sent from Gmail Mobile

Original Message:
Sent: 6/27/2025 8:18:00 AM
From: Marilyn Kay
Subject: RE: Pédiatric case

And look for why she is not taking in enough nutrition to be healthy at her age....anorexia??

Original Message:
Sent: 6/27/2025 8:09:00 AM
From: Michael Carper
Subject: RE: Pédiatric case

If I suspect nutritional, in addition to the B vitamins you mentioned I'll also get Vit A, E, B1, Cu and Zn to cover the sensory ataxias as well.

Regards

Michael Carper MD

Original Message:
Sent: 6/27/2025 7:10:00 AM
From: Scott Forman
Subject: RE: Pédiatric case

Don't forget to add Zinc

+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=

Scott Forman, MD

Senior Fellow North American Neuro-ophthalmology Society

Adult and Pediatric Neuro-ophthalmology

Comprehensive Ophthalmology

Functional Medicine

Original Message:
Sent: 6/27/2025 4:39:00 AM
From: Sherif Ahmed Kamel Abdelbar
Subject: RE: Pédiatric case

I see cases of nutritional optic neuropathies that resemble very mild ch mitochondrial disease but neurological manifestations does not mount to myelitis really , they are related to vitamin b deficiency as it is known , may there is a compromised immunity also so just do virology labs and of course add CoQ10 and vitamin B to treatment as I always do in nutritional cases , in which I don't use steroids 

Sherif 

Sent from Yahoo Mail for iPhone

Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/27/2025 8:09:00 AM
From: Michael Carper
Subject: RE: Pédiatric case

If I suspect nutritional, in addition to the B vitamins you mentioned I'll also get Vit A, E, B1, Cu and Zn to cover the sensory ataxias as well.

Regards

Michael Carper MD

Original Message:
Sent: 6/27/2025 7:10:00 AM
From: Scott Forman
Subject: RE: Pédiatric case

Don't forget to add Zinc

+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=

Scott Forman, MD

Senior Fellow North American Neuro-ophthalmology Society

Adult and Pediatric Neuro-ophthalmology

Comprehensive Ophthalmology

Functional Medicine

Original Message:
Sent: 6/27/2025 4:39:00 AM
From: Sherif Ahmed Kamel Abdelbar
Subject: RE: Pédiatric case

I see cases of nutritional optic neuropathies that resemble very mild ch mitochondrial disease but neurological manifestations does not mount to myelitis really , they are related to vitamin b deficiency as it is known , may there is a compromised immunity also so just do virology labs and of course add CoQ10 and vitamin B to treatment as I always do in nutritional cases , in which I don't use steroids 

Sherif 

Sent from Yahoo Mail for iPhone

Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Thanks for all your advises
I’ll check all that and ask the blood test which hadn’t been done!
Homocysteine was a little high but back at normalement levels now. Methylmalonate was normal.

Dr Cédric Mayer


Original Message:
Sent: 6/29/2025 4:33:00 PM
From: Nafiseh Hashemi
Subject: RE: Pédiatric case

Nafiseh Hashemi reacted to your message:

Original Message:
Sent: 6/27/2025 8:09:00 AM
From: Michael Carper
Subject: RE: Pédiatric case

If I suspect nutritional, in addition to the B vitamins you mentioned I'll also get Vit A, E, B1, Cu and Zn to cover the sensory ataxias as well.

Regards

Michael Carper MD

Original Message:
Sent: 6/27/2025 7:10:00 AM
From: Scott Forman
Subject: RE: Pédiatric case

Don't forget to add Zinc

+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=+=

Scott Forman, MD

Senior Fellow North American Neuro-ophthalmology Society

Adult and Pediatric Neuro-ophthalmology

Comprehensive Ophthalmology

Functional Medicine

Original Message:
Sent: 6/27/2025 4:39:00 AM
From: Sherif Ahmed Kamel Abdelbar
Subject: RE: Pédiatric case

I see cases of nutritional optic neuropathies that resemble very mild ch mitochondrial disease but neurological manifestations does not mount to myelitis really , they are related to vitamin b deficiency as it is known , may there is a compromised immunity also so just do virology labs and of course add CoQ10 and vitamin B to treatment as I always do in nutritional cases , in which I don't use steroids 

Sherif 

Sent from Yahoo Mail for iPhone

Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

I would also check biotinidase activity. I have had 2 patients from Somalia who presented with bilateral cecocentral scotoma and myelopathy who had delayed onset biotinidase deficiency.

Regards,
Kevin


Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/28/2025 9:07:00 AM
From: Kevin Chodnicki
Subject: RE: Pédiatric case

I would also check biotinidase activity. I have had 2 patients from Somalia who presented with bilateral cecocentral scotoma and myelopathy who had delayed onset biotinidase deficiency.

Regards,
Kevin


Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch

Original Message:
Sent: 6/29/2025 11:05:00 PM
From: Bart Chwalisz
Subject: RE: Pédiatric case

If B12 is below normal, it could be the cause of an optic neuropathy and/or myelopathy or peripheral neuropathy. Even in technically still low-normal levels, we sometimes see neurologic deficits develop. You can check methylmalonic acid and homocysteine levels to look for further biochemical evidence of true deficiency (in addition to a macrocytic anemia, which however doesn't need to be present in neurologic patients).

What did the spine MRI show? Was there T2/STIR brightness only, or was there also contrast enhancement? Contrast enhancement is more suggestive of an inflammatory myelopathy, which changes the differential diagnosis.

Best,

Bart

 

 

Bart K. Chwalisz, M.D.

Neuro-ophthalmology, Headache Unit, and Skull Base Disorders Clinic. Division of  Neuroimmunology, Massachusetts General Hospital/Harvard Medical School

https://www.massgeneral.org/neurology/treatments-and-services/inflammatory-neuroophthalmology-and-skull-base-disorders-clinic

Neuro-ophthalmology, Massachusetts Eye & Ear Infirmary/Harvard Medical School

Neurology, Martha's Vineyard Hospital

 

 

 

Original Message:
Sent: 6/28/2025 9:07:00 AM
From: Kevin Chodnicki
Subject: RE: Pédiatric case

I would also check biotinidase activity. I have had 2 patients from Somalia who presented with bilateral cecocentral scotoma and myelopathy who had delayed onset biotinidase deficiency.

Regards,
Kevin


Original Message:
Sent: 6/27/2025 4:22:00 AM
From: Cédric Mayer
Subject: Pédiatric case

Dear collegues
Let me present a case for you.

Young 10 YO black skin girl. She complains about reduced VA since a few months.
No headache.
She has diet problems cause she does not est any vegetables or fruits.
I objaectived reduced VA at 0.2 Snellen with coecocentral scotoma at octopus 10 degrees and Pulsar.
No spiral pattern at Goldman VF and confirmation of CC scotoma.
No RAPD and visual color déficit with Ishihara 1/17 both side.
OCT showed reduced RGCLs (caveat no data at this age)

I performed an MRI scan immediately to rule out compression ( which was ruled out) and vitamines blood test.

The vit B2, B6 and B12 were slightly under normal values. AQP4 and anti MOG négative.

2 weeks later, she developped pain in legs and ataxia so she was hospitalised and MRI of spine showed myelitis, which was treated with high dose corticoids with tapering per mouth.
Co emzyme Q10 was low and rest of laboratory is normal.

She will have auditory tests and ERG and angiography to finish the tests.

What do you think about?
Mitochondriopathy?
Other?

Best


Dr Cédric Mayer
Spécialiste FMH en ophtalmologie et ophtalmochirurgie
Sous-spécialité en neuro-ophtalmologie et ophtalmo-pédiatrie
Av. C-F Ramuz 60
1009 Pully
Tel 021/711.20.72 (70)
Fax 021/711.20.71
Natel 079/865.43.37
cedric.mayer@mayer-ophtalmologie.ch
cedric.mayer@svmed-hin.ch
Site: mayer-ophtalmologie.ch