14 month old basal ganglia, acidosis

[Guest guest]

my 14 month old son Lucas is currently being investigated for a

mitochondrial disorder his symtoms are:-

basal ganglia lesions

ataxia

loss of cordination

he is currently in a serious state in hospital having just suffered

a bout of metabolic acidosis

his lactate levels are fine

has anyone heard of any child with these problems and what was the

diagnosis.

also does anyone know of an expert based in the uk

martin & patricia

[Guest guest]

You just described my son...

when he was 13 months old he was hospitalized with a severe bout of

ataxia, balance issues etc (after 4 months of good walking, he just

stopped... couldnt support his weight anymore, almost overnight)...

over the past year they have found liesons on his basal ganglia, as

well as lactic acidosis, elevated CK enzymes, low blood sugar, and a

handful of other issues (very high fevers etc, im sure im forgetting

stuff too).

He had a muscle biopsy done on October, and the results in January

showed he has a Complex 1 deficiency.

Overall he is doing VERY well... he has some bouts of ataxia, mostly

when he gets sick... his balance is a little off, and he is very

speech delayed (the muscles in his mouth are not strong enough

yet... he undestands EVERYTHING though, and has learned over 50

signs in the past few months, so is very communicative). Other than

the balance troubles, intermittent leg weakness/pain, and having to

be sure he sleeps and eats enough, he is really not affected that

badly so far, we are very thankful.

Im sorry I dont know of anyone in the UK, but if you check

www.umdf.org they will likely have info, or be able to provide you

with some...

Keely (mom to , 26 months, Complex 1, and Tyler, 5 days old!)

>

>

>

> my 14 month old son Lucas is currently being investigated for a

> mitochondrial disorder his symtoms are:-

>

> basal ganglia lesions

> ataxia

> loss of cordination

>

> he is currently in a serious state in hospital having just

suffered

> a bout of metabolic acidosis

>

> his lactate levels are fine

>

> has anyone heard of any child with these problems and what was the

> diagnosis.

>

> also does anyone know of an expert based in the uk

>

> martin & patricia

[Guest guest]

Elijah was extreamly dehidrated(poor sucking ability), elevated

lactate levels, elevated liver enzyms and damage to the basal

ganglia and thalamus regions of the brain. Oh yah and acidosis. He

looked like he hadn't eated in weeks. Had dystonia. He couldn't fix

and follow with his eyes and wasn't hitting developmental

milestones. Diagnosed with Leigh's that (5months old)week from the

MRI. They said it was textbook Leigh's. The picture of his brain

could have come from a medical discription of Leigh's. The worst

week in our lives so far. With Elijah he had blood tests, a skin and

muscle biopsy and nothing came back abnormal. Still to date we don't

know his breakdown. He just celebrated his 2nd birthday last week.

Elijah was damage was extream(worse now) and the doctors that see

him to date say that even though the would not tell us life

expectancy they never thought he would still be here. See!!! our

kids are too cool and more stregth than we can imagine.

I think many of the metabolic/Mitochondrial illnesses show up this

way. A little girl I know with GA1(metabolic) developed normal until

she was 12months old and then fell down and couldn't walk. That is

when they found out what she had. Now her mother is an advocate for

newborn screening as it would have saved her daughter from a life of

physical impariments. It is just so hard to diagnose specific

breakdowns.

I pray they are able to diagnose you child. God Bless

http://www.caringbridge.org/co/elijahkurtz

Ann (mother to Elijah-Leigh's now 2years old)

>

>

>

> my 14 month old son Lucas is currently being investigated for a

> mitochondrial disorder his symtoms are:-

>

> basal ganglia lesions

> ataxia

> loss of cordination

>

> he is currently in a serious state in hospital having just

suffered

> a bout of metabolic acidosis

>

> his lactate levels are fine

>

> has anyone heard of any child with these problems and what was the

> diagnosis.

>

> also does anyone know of an expert based in the uk

>

> martin & patricia

[Guest guest]

My daughter Asenath is thought to have a Mitochondrial disorder as well

and displays the same issues your child has. She had a basal ganglia

infarct (stroke), ataxia issues, coordination issues, metabolic acidosis

frequently though under control most of the time with meds, no lactic

acidosis seen in her (although my other daughter has this issue frequently),

along with multiple other issues as you can read below. We are still

struggling to diagnose them as their frozen biopsies revealed only hints of

Mito rather than a firm diagnosis. Our metabolic doc believes them to have

it though and treats them with the Mito cocktail. There are other

conditions that can mimic Mito and it can be very difficult to sort through

all these conditions. Often docs have to rule out everything else to be

able to " rule in " Mito. It can be a long and frustrating process. Best

wishes on your child's diagnosis and welcome to the group.

See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see

a photo look into what Mito looks like

Darla: mommy to

Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomia, SID, global delays, asthma, cyclic vomiting,

bladder issues, wheelchair for distances, eye issues, autistic behaviors,

gastric emptying issues...

Zipporrah (16 months) Mito, strokes, neuro-motor planning dys., SID, GERD,

dysphasia, 100% G-tube fed, speech delays, extreme fatigue, excessive

phlegm, asthma, trach issues, aberrant subclavian artery, disautonomia,

hypertonicity, migraines, possible seizures, dumping syndrome, iron

deficiency, ...

Luke (16), Leah (14), Rachael (13), Isaac (11), Tirzah (8), Kezia (4), &

Marquis (3), Joey & (14 months) (some with Mito symptoms)

[Guest guest]

how do yyou tell that? I have had an mri that shows that i have calcium on my basal ganglia and that they're blowing it off that it is related to my hypoparathyroidism. I swear sometimes at night or at rest i have some sort of seizure activity or jerks that they blow off as due to tetany. I'm tempted to get a recheck of it.

Darla Klein wrote:

My daughter Asenath is thought to have a Mitochondrial disorder as well and displays the same issues your child has. She had a basal ganglia infarct (stroke), ataxia issues, coordination issues, metabolic acidosis frequently though under control most of the time with meds, no lactic acidosis seen in her (although my other daughter has this issue frequently), along with multiple other issues as you can read below. We are still struggling to diagnose them as their frozen biopsies revealed only hints of Mito rather than a firm diagnosis. Our metabolic doc believes them to have it though and treats them with the Mito cocktail. There are other conditions that can mimic Mito and it can be very difficult to sort through all these conditions. Often docs have to rule out everything else to be

able to "rule in" Mito. It can be a long and frustrating process. Best wishes on your child's diagnosis and welcome to the group.See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see a photo look into what Mito looks likeDarla: mommy toAsenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube, hypotonicity, disautonomia, SID, global delays, asthma, cyclic vomiting, bladder issues, wheelchair for distances, eye issues, autistic behaviors, gastric emptying issues...Zipporrah (16 months) Mito, strokes, neuro-motor planning dys., SID, GERD, dysphasia, 100% G-tube fed, speech delays, extreme fatigue, excessive phlegm, asthma, trach issues, aberrant subclavian artery, disautonomia, hypertonicity, migraines, possible seizures, dumping syndrome, iron deficiency, ...Luke (16), Leah (14), Rachael (13), Isaac (11), Tirzah (8), Kezia (4), & Marquis (3), Joey & (14

months) (some with Mito symptoms) Please contact mito-owner with any problems or questions. __________________________________________________