Re: Biopsy results issue (/all)

[Guest guest]

Believe it or not, I don't think I ever did get a formal full report

from Asenath's biopsy. It was done February 27, 2003. I have only seen

notes on it from Dr. Whiteman. A couple times I have requested the results

and then got busy and forgot that it never came. I again asked just two

weeks ago for a copy. I have been planning on speaking to Dr. Whiteman

about this and requesting a copy, which I assume shouldn't be a problem,

but... (I think he is so busy he forgets too much!)

Anyway... his notes following the biopsy state:

The histology report shows muscle fibers from 12-35 microns in diameter

with 3 to 4 fibers (among more than 5000 examined), showing regenerating

changes. Near 1 of these regenerating fibers sparse mononucleate cells were

seen. Scattered fibers throughout the specimen are hyper-contracted.

Connective tissue elements are unremarkable. Oxidative enzyme staining

shows increased staining in the hyper-contracted fibers, which is not

abnormal. Cytochrome C oxidase-negative fibers were absent. ATPase-reacted

sections show grouping of type I fibers and 3 fascicles. There is no

grouping of type IIA of IIB fibers. Slight increases in acid phosphatase

activity are noted in the rare regenerating fibers. Myophosphorylase

activity is intact. Muscle fiber glycogen was normal. Type I fibers

contain an increased number of small lipid droplets.

These results were not enough to 100% confirm Mito. They only suggest

a strong probability of an underlying inborn error of metabolism, probable

Mitochondrial Encephalopathy. Also, the Buffalo Children's Hospital

laboratory also suggested the possibility of MNGIE (a form of Mito) was

suspected due to a pattern of general depression of all the enzyme activity

levels and due to Asenath's clinical picture. They wanted to do further

studies on her thymidine phosphorylase levels in a sample of blood. This

was to be part of a study and I don't think this was ever actually done even

though we sent the appropriate blood samples. Dr. Whiteman later told me

that this time period was a time when MNGIE was overly suggested in patients

anyway and that Asenath didn't fit the profile as well as they had

suggested. And finally, the laboratory felt her COQ10 levels might be a

secondary issue of concern and suggested blood tests be run to further check

into this. They were rechecked and she was still deficient even though

taking COQ10 and Dr. Whiteman immediately increased her dosage of the

supplement.

I would love to hear any similarities or differences in your biopsy. I

have often wondered if a fresh biopsy would have revealed more. We again

opted to do a frozen biopsy with Zipporrah and are still waiting for the

results after 6 months!!! It is starting to become quite frustrating as I

worry something might have happened to the specimen and they just aren't

bothering to communicate it. Zipporrah is more affected than Asenath so I

think I am really more hopeful than I even realized I was for confirmation

with hers.

Anyone else recognize anything similar in the biopsy? I would love to

hear what others diagnosis's are that are similar.

Darla: mommy to

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

hypotonicity, disautonomy, SID, dev. delays, asthma, cyclic vomiting...

Zipporrah (11 mon.) Mito, strokes, neuro-motor planning dysfunction, SID,

GERD, 100% G-tube fed, asthma, trach issues, aberrant subclavian artery,

disautonomy, hypo & hypertonicity, migraines, possible seizures, dumping

syndrome, iron deficiency...

Luke (16), Leah (14), Rachael (12), Isaac (10), Tirzah (8), Kezia (3), &

Marquis (2) (some with Mito symptoms)

Re: Re: -CNS vasculitis issue

> Darla,

> I menat to ask you what did Aseneths muscle biopsy show?

> just curious if we are similar there..

>

>