Suspected Mitochondrial disorder with basal ganglia lesions and ataxia

[Guest guest]

Lucas is 14 months old and an only child. He has shown greater

symptoms of ataxia, lack of balance and movement disorders from 10

months old, following a viral infection. He became very ataxic after

a viral infection lasting 3 days, having no food just milk.

He had shown some forms of ataxia from 5 months old.

Test Results / Symptoms

• Lucas's M.R.I showed bilateral damage lesions to Basal

Ganglia (known at 10 months).

• He also had bouts (noticed at 7 months) where his eyes would

roll to the back of his head for periods of 5 to 10 seconds up to 5

times daily.

• Ataxia

He has shown negative for most neurological tests and we are waiting

for results of a study on mitochondrial DNA.

A skin biopsy and possible muscle biopsy are to be done soon.

Blood testing

The only tests that came back slightly out of range are:-

• Alpha feto-proteins slightly raised at 13 (range is 0-10)

• Immunoglobins – slightly decreased in IgA 0.19 g/l & IgM 0.5

g/l

Tested negative to AT

• Glutamate - Slightly raised in the amino acids

• No sign of raised lactic acid levels during normal periods

or during deterioration.

• Metabolic Acidosis following a viral infection [cold] 1 week

ago.

• Ketones levels were raised after a metabolic acidosis.

He recently was rushed to intensive care where they diagnosed a

metabolic acidosis during a `cold' and is now having a very slow

recovery in hospital. He currently has very low energy levels, which

he uses to control his eyes which flicker, swallow, move fingers.

We would like to know about similar cases. Suggestions?

We are also curious to know of the best specialist in the world on

these mitochondrial disorders.

martin & patricia london uk

[Guest guest]

I do not Have much information for you except that the symptoms you have

described are very similar to my girls. My story is very long but for

details you can visit my daughter's memorial website at www.samyahaddad.com

Both my girls have mito (specifically leigh's) with the point mutation at

T8993C. My older one died at age 8 about 2 years ago and my only other

child, Leanna is now 7 with the same exact diagnosis. The specific mutation

was found via mitochondrial DNA blood test on Leanna after Samya was

diagnosed post autopsy and muscle/nerve biopsy while dying in the ICU. Both

girls had the same MRI findings as your son and had ataxia following virus

infections. No other neurological tests ever showed anything else and the

actual diagnosis for either one only came after Samya's death. Both girls

had slight unexplained abnormal symptoms and blood test results that were

always inconclusive. Samya had reflux, balance problems, ataxia, slow

development, short stature, hypotonia, Renal tubular acidosis, ADD, learning

difficulties and hormone inbalance and yet she was so " normal " looking and

still went undiagnosed. Neither girl ever had a seizure. Both were late

walkers. Leanna was very similar to Samya as an infant but no RTA or hormone

problems. When they got sick (not every sickness), they would lose energy,

sleep a lot, unable to walk , barely able to eat, and lose skills they had

achieved up until then. Samya developed respiratory problems during the last

virus that took her life, was intubated and died 33 days later. Leanna is

thus far doing well, but has asthma and looks very good, but thereality is

that things can change just s quick as they did for her sister. Our mutation

is maternally inherited. As for experts, in our case specifically, I do not

know of any that know much about it.There is no real treatment and leanna is

on a vitamin cocktail of B-complex, coQ10, and L-carnitine. She also takesa

liquid Arginine daily to help blood flow through her brain. I hope this

helps. I answered this e-mail because the symptoms seem so similar to ours.

Good luck,

 

 

Suhad Haddad  --  Mom to Samya (Died 12-10-02 of Leigh's Synd.) & Leanna

with same disease.

Samya's Memorial Site: www.samyahaddad.com/.org/.net

Email: Suhad1970@...

Alt Email: Suhad@...

AiM Chat: Suhad1970

Suspected Mitochondrial disorder with basal ganglia lesions

and ataxia

Lucas is 14 months old and an only child. He has shown greater

symptoms of ataxia, lack of balance and movement disorders from 10

months old, following a viral infection. He became very ataxic after

a viral infection lasting 3 days, having no food just milk.

He had shown some forms of ataxia from 5 months old.

Test Results / Symptoms

• Lucas's M.R.I showed bilateral damage lesions to Basal

Ganglia (known at 10 months).

• He also had bouts (noticed at 7 months) where his eyes would

roll to the back of his head for periods of 5 to 10 seconds up to 5

times daily.

• Ataxia

He has shown negative for most neurological tests and we are waiting

for results of a study on mitochondrial DNA.

A skin biopsy and possible muscle biopsy are to be done soon.

Blood testing

The only tests that came back slightly out of range are:-

• Alpha feto-proteins slightly raised at 13 (range is 0-10)

• Immunoglobins – slightly decreased in IgA 0.19 g/l & IgM 0.5

g/l

Tested negative to AT

• Glutamate - Slightly raised in the amino acids

• No sign of raised lactic acid levels during normal periods

or during deterioration.

• Metabolic Acidosis following a viral infection [cold] 1 week

ago.

• Ketones levels were raised after a metabolic acidosis.

He recently was rushed to intensive care where they diagnosed a

metabolic acidosis during a `cold' and is now having a very slow

recovery in hospital. He currently has very low energy levels, which

he uses to control his eyes which flicker, swallow, move fingers.

We would like to know about similar cases. Suggestions?

We are also curious to know of the best specialist in the world on

these mitochondrial disorders.

martin & patricia london uk

Please contact mito-owner with any problems or questions.