Re: Does this ring any bells with anyone? Relevant (?) features re my son

March 28, 2011

Hi Margaret,you don't mention when he started the B6 and how this related to the Vigabatrin and steroids. I ask for clarification as some conditions like Landau-Kleffner can show dramatic paradoxical improvements on steroids with recovery of language after regression. Has he been checked for LKS?There are pyridoxine responsive seizure disorders ( Baxter's book on this is quite thorough). Give the matrilineal history there could be either a heteroplasmic mitochondriopathy or a maternally transmitted nuclear DNA problem (assuming that the issues in MGM, mum and child are all related. MELAS, MERFF etc are all possibilities if thefe is a significant neuromuscular component.I think Prof Clayton would be a good person to see.Hope this

helps.Ken Subject: Does this ring any bells with anyone? Relevant (?) features re my sonTo: Autism-Biomedical-Europe Date: Monday, 28 March, 2011, 6:16

I posted this on another list yesterday but thought I might get a good response from some list mates here, as you know a lot between you: Does any of this ring a bell and suggest whether H might have a genetic factor, perhaps mitochondrial re his autism and other diabilities?

His maternal grandmother had schizophrenia;

Mother is hypothyroid (auto-immune cause) and suffers from depression and has always tended to run out of energy - mother became pretty ill as she reached middle age;

He twice suffered severe adverse reaction to whole cell DTP Hib given in infancy;

Had Infantile spasms with Hypsarrythmia (West syndrome), diagnosed at 7 1/2 months corrected age. I suspect the whooping cough vaccine but of course all the doctors say this is rubbish;

Atypical reaction to steroids given for Infantile Spasms - instead of his getting angry and irritable, which was what we were told would happen, he became virtually comatose and slept all the time except for feeds. (He was also on Vigabatrin - had been on this for 2 weeks before the steroids were added in);

Seizures were stopped and his EEG became normal when he was given 10mg/kg of B6 (pyridoxine hydrochloride). I could see with hours he was getting much better and waking up. (His system was still full of Vigabatrin and steroids at that point, too)

He stopped the B6 before he was five and he seemed fine; however we are now seeing night time seizures which need to be investigated, Currently these are untreated. It's possible he has been having undected seizures at night for years;

Severe autism and learning disability;

Problems with gut motility; when younger also evidence of malabsorbtion - but he's improved;

Has a lot of energy, but is often tired in the morning, although he still gets up very early;

Ligamentous laxity (not considered severe on the whole);

Had one dose of MMR aged 2 1/2 (already diagnoised with autisn before he had it)-

led to mini mumps one side of jaw, calcified lymph node. Also 2 episodes of

petechiae and 6 weeks of diarrhoea. No seizures or regression noticed, however.

No vaccines since then. He's now 11 1/2;

Doctors disagree whether he has unusual facial features or not - 3 say he has,the neuro says he hasn't.

As well as a proper neuro investigation I should like him investigated by a UK metabolic specialist but it may be difficult to argue the case for the referral. His neurologist says he is the only patient he's ever had who responded so completely to vitamin B6 for Infantile Spasms. This indicates to me that my son has something particular and unusual with his biochemistry. Also an indication of unusual biochemistry may be his atypical reaction to steroids.

We see the neuro on Tuesday - and it took a lot of pushing to get this appointment. NICE guidelines say a child should be seen within 2 weeks of the second seizure. It's taken 4 1/2 months. I know the neuro won't want to investigate but to start on drugs. This is because H was investigated when he was an infant (June 2000) and having Infantile Spasms. Well his MRI for a start (Dec. 2000) was of a baby brain and he ought I think to have another now. The report then said it was possible that there where white matter abnormalities but that what was shown was within normal limits for his age. His brain is much more developed now so an MRI might yield a lot more. Addenbrooke's have no facilities for overnight EEG or video telemetry. He needs a sleep EEG. Their attempt to do one in the afternoon (Doh!) with 2mg melatonin was a complete failure.

Thanks,

Margaret

One list mate suggested we try to contact Prof Clayton at GOS. I need somewhere that will invesitagte him properly and be curious to look into possible genetic.mito issues. Any ideas about where to go would be very welcome.

March 28, 2011

Hello Ken,

H was diagnosed with Infantile Spasms when he was 9 months old (7 1/2 months

corrected age). His EEG showed hypsarrythmia. They started him at once on

Vigabatrin - he was enrolled in the UKISS which was aiming to see whether

steroids or Vigabatrin was the better first line treatment, and was written up

in the BMJ, I think. At the same time, the neuro prescribed 100mg a day of B6

for 5 days.

Henry's seizures stopped within 24 hours. After a week we were discharged with

the Vigabatrin but with no B6. The neuro went on holiday.

Within a day or 2 the seizures were back and we went to A$E. The junior doc

spoke to the neuro on the phone and he increased the Vigabatrin. The seizures

got worse, After 2 weeks of Vigabatrin we went back and the neuro had ordered

injected steroids to be given along with the Vigabatrin - a massive dose.

After two more weeks – during this period H was comatose – back to see the

neuro.

I said what about those first days when there were no seizures? He added back

the B6. The seizures stopped after 12 hours – I knew he was getting better

within a couple of hours. A new EEG after 2 weeks was normal.

The steroids were tapered off along with the Vigabatrin. IN all he took

Vigabatrin for 2 months and a bit and steroids for about a month to 6 weeks. (I

have the record somewhere, along with his hospital notes.)

He hasn't been checked for LKS. He had no language at all until he was five and

still prefers to use single words or shout. His receptive language is thought to

be at around the three year old level.

He hasn't been checked for any genetic condition.

They did do one lumbar puncture (think they were looking for meningitis – he

didn't have it) and one organic acids test – both during the acute phase of

illness. They say nothing much showed up. There was one biotinidase test – they

say it was okay.

He has some coffee- coloured patches on his skin – so do I, so do my sisters and

their children but a dermatologist looked at him under a Woods light and said

there was nothing remarkable. (A certain number and size may indicate

neurofibromatosis, I think.)

I don't know Dr Baxter's book and shall have to try to track it down. We saw him

twice when H was little. A lovely man and I had confidence in him as a doctor.

It may be necessary to try to go back to see him if we can't get to GOS to Prof.

Clayton.

I'll have to look up what MELAS and MERFF are!

BTW the report of the UKISS misrepresented Henry's response to B6 – they

reported it as probable pyridoxine dependency. It wasn't and it was known at the

time that it wasn't, had anyone bothered to check! I rang the researchers in

Bristol while the study was still ongoing to express my concern that they hadn't

included B6 in the trial. So babies who could be helped by it still aren't

getting B6….

Margaret

>

> Subject: Does this ring any bells with anyone?

Relevant (?) features re my son

> To: Autism-Biomedical-Europe

> Date: Monday, 28 March, 2011, 6:16

>

> Â

>

> I posted this on another list yesterday but thought I might get a good

response from some list mates here, as you know a lot between you: Does any of

this ring a bell and suggest whether H might have a genetic factor, perhaps

mitochondrial re his autism and other diabilities?

>

> His maternal grandmother had schizophrenia;

>

> Mother is hypothyroid (auto-immune cause) and suffers from depression and has

always tended to run out of energy - mother became pretty ill as she reached

middle age;

>

> He twice suffered severe adverse reaction to whole cell DTP Hib given in

infancy;

>

> Had Infantile spasms with Hypsarrythmia (West syndrome), diagnosed at 7 1/2

months corrected age. I suspect the whooping cough vaccine but of course all the

doctors say this is rubbish;

>

> Atypical reaction to steroids given for Infantile Spasms - instead of his

getting angry and irritable, which was what we were told would happen, he became

virtually comatose and slept all the time except for feeds. (He was also on

Vigabatrin - had been on this for 2 weeks before the steroids were added in);

>

> Seizures were stopped and his EEG became normal when he was given 10mg/kg of

B6 (pyridoxine hydrochloride). I could see with hours he was getting much better

and waking up. (His system was still full of Vigabatrin and steroids at that

point, too)

>

> He stopped the B6 before he was five and he seemed fine; however we are now

seeing night time seizures which need to be investigated, Currently these are

untreated. It's possible he has been having undected seizures at night for

years;

>

> Severe autism and learning disability;

>

> Problems with gut motility; when younger also evidence of malabsorbtion - but

he's improved;

>

> Has a lot of energy, but is often tired in the morning, although he still gets

up very early;

>

> Ligamentous laxity (not considered severe on the whole);

>

> Had one dose of MMR aged 2 1/2 (already diagnoised with autisn before he had

it)-

>

> led to mini mumps one side of jaw, calcified lymph node. Also 2 episodes of

>

> petechiae and 6 weeks of diarrhoea. No seizures or regression noticed,

however.

>

> No vaccines since then. He's now 11 1/2;

>

> Doctors disagree whether he has unusual facial features or not - 3 say he

has,the neuro says he hasn't.

>

> As well as a proper neuro investigation I should like him investigated by a UK

metabolic specialist but it may be difficult to argue the case for the referral.

His neurologist says he is the only patient he's ever had who responded so

completely to vitamin B6 for Infantile Spasms. This indicates to me that my son

has something particular and unusual with his biochemistry. Also an indication

of unusual biochemistry may be his atypical reaction to steroids.

>

> We see the neuro on Tuesday - and it took a lot of pushing to get this

appointment. NICE guidelines say a child should be seen within 2 weeks of the

second seizure. It's taken 4 1/2 months. I know the neuro won't want to

investigate but to start on drugs. This is because H was investigated when he

was an infant (June 2000) and having Infantile Spasms. Well his MRI for a start

(Dec. 2000) was of a baby brain and he ought I think to have another now. The

report then said it was possible that there where white matter abnormalities but

that what was shown was within normal limits for his age. His brain is much more

developed now so an MRI might yield a lot more. Addenbrooke's have no facilities

for overnight EEG or video telemetry. He needs a sleep EEG. Their attempt to do

one in the afternoon (Doh!) with 2mg melatonin was a complete failure.

>

> Thanks,

>

> Margaret

>

> One list mate suggested we try to contact Prof Clayton at GOS. I need

somewhere that will invesitagte him properly and be curious to look into

possible genetic.mito issues. Any ideas about where to go would be very welcome.

>

March 28, 2011

Dear Ken,

I already have a copy of Vitamin Responsive Conditions in Paediatric Neurology.

Is there another book?

Thanks,

Margaret

> >

> > From: Margaret <m.collins9@>

> > Subject: Does this ring any bells with anyone?

Relevant (?) features re my son

> > To: Autism-Biomedical-Europe

> > Date: Monday, 28 March, 2011, 6:16

> >

> > Â

> >

> > I posted this on another list yesterday but thought I might get a good

response from some list mates here, as you know a lot between you: Does any of

this ring a bell and suggest whether H might have a genetic factor, perhaps

mitochondrial re his autism and other diabilities?

> >

> > His maternal grandmother had schizophrenia;

> >

> > Mother is hypothyroid (auto-immune cause) and suffers from depression and

has always tended to run out of energy - mother became pretty ill as she reached

middle age;

> >

> > He twice suffered severe adverse reaction to whole cell DTP Hib given in

infancy;

> >

> > Had Infantile spasms with Hypsarrythmia (West syndrome), diagnosed at 7 1/2

months corrected age. I suspect the whooping cough vaccine but of course all the

doctors say this is rubbish;

> >

> > Atypical reaction to steroids given for Infantile Spasms - instead of his

getting angry and irritable, which was what we were told would happen, he became

virtually comatose and slept all the time except for feeds. (He was also on

Vigabatrin - had been on this for 2 weeks before the steroids were added in);

> >

> > Seizures were stopped and his EEG became normal when he was given 10mg/kg of

B6 (pyridoxine hydrochloride). I could see with hours he was getting much better

and waking up. (His system was still full of Vigabatrin and steroids at that

point, too)

> >

> > He stopped the B6 before he was five and he seemed fine; however we are now

seeing night time seizures which need to be investigated, Currently these are

untreated. It's possible he has been having undected seizures at night for

years;

> >

> > Severe autism and learning disability;

> >

> > Problems with gut motility; when younger also evidence of malabsorbtion -

but he's improved;

> >

> > Has a lot of energy, but is often tired in the morning, although he still

gets up very early;

> >

> > Ligamentous laxity (not considered severe on the whole);

> >

> > Had one dose of MMR aged 2 1/2 (already diagnoised with autisn before he had

it)-

> >

> > led to mini mumps one side of jaw, calcified lymph node. Also 2 episodes of

> >

> > petechiae and 6 weeks of diarrhoea. No seizures or regression noticed,

however.

> >

> > No vaccines since then. He's now 11 1/2;

> >

> > Doctors disagree whether he has unusual facial features or not - 3 say he

has,the neuro says he hasn't.

> >

> > As well as a proper neuro investigation I should like him investigated by a

UK metabolic specialist but it may be difficult to argue the case for the

referral. His neurologist says he is the only patient he's ever had who

responded so completely to vitamin B6 for Infantile Spasms. This indicates to me

that my son has something particular and unusual with his biochemistry. Also an

indication of unusual biochemistry may be his atypical reaction to steroids.

> >

> > We see the neuro on Tuesday - and it took a lot of pushing to get this