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Author Topic:   Gallbladder Agenesis with multiple malformations
posted 03-09-2007 05:46 AM     Click Here to See the Profile for cooperjd   Click Here to Email cooperjd     Edit/Delete Message Reply w/Quote
I am seeking insight and/or advice in managing the diagnostic process for my son.

Currently awaiting chomosome analysis results(about 10 day away).

Here's what we know/have been told over the last five years.

Cooper= 5 years old
Born 3 weeks early

Has been in the 1 to 5th percentile in height and weight since birth.

At birth had a sizable umbilical hernia, micro-penis, and breathing difficulty.

Also showed sindactyly of toes on left and right feet. And very mild hint of sindactly of fingers. Head size was a little over sized as well. APGAR score was fine.

Later his breathing difficulty was diagnosed as tracheomalacia(sp?). He also has been determined to have cryptochordism, a narrow urethra, and a shawl scrotum. Additionally he has a hypo-pigmentation abnormality on his torso. It's fairly mild yet still evident.

His ears are slightly low set, and there's a little point right in the middle of the upper helix, yet overall his ear malformation is mild. His beautiful eyes are also slanted down mildly.

Two weeks ago after a stint of very painful stomach cramps we took him to his pediatric dr. They did a CBC and found him to have an elevated white count of 16,000. Two days later the white count was 13,900. In addition he was found to be anemic in both CBC's. His sedimentation rate was high as well.

In addition they scheduled an ultra-sound and were unable to locate a gallbladder. They spent a great deal of time looking, and brought in a doctor who the geneticist believes would have found it if it was in fact present. They used multiple attachments to the US equipment and placed him in every possible position to view his organs. Every other organ was quite visible.

Cooper by most respects appears to be a perfectly handsome little boy. He has some developmental delays that we had already been working to overcome. In addition the geneticist told us today that he felt that Cooper had low muscle tone for a 5 year old boy based on some of his observations and tests.

In some areas Cooper is quite intelligent. For instance he'll play an X-box game that is too complex and difficult for his 8 year old brother to figure out and he'll count into the hundreds.... yet he'll often forget the difference between and N and an M in the alphabet, even when seeing and repeating them moments earlier. He can be very forgetful. Often asking the same question many many times. Getting frustrated with not being able to remember the answer he was just given.

He walked and talked late by all accounts, but now runs and laughs and plays much like any boy.

The other odd thing that we've noticed with him is that he loves the taste of salt apparently. As a 3 & 4 year old we would repeatedly find him licking his little brothers hair. When asked why he would say that he liked the way it tasted. He became embarrassed when he could read our alarmed expressions, and has since stopped this(we think).

We are most interested in confirming that we're on the right track. The current geneticist has never worked with a case of Gallbladder Agenesis. He seems intent to go through all the proper steps to diagnose, yet we want to make sure that we have all of our bases covered. In some respects this sounds like a mosaic trisomy presented in many mild expressions of malformations. Yet in some ways it also sounds like Aarskog Syndrome. The Gallbladder and Tracheomalacia don't really fit with Aarskog though. I've found some speculation/case studies that Tracheomalacia is associated with the Esophogeal Atresia and/or Esophogeal Fistula that points to a few different trisomy's. Wondering if it's possible that his Tracheomalacia could in fact be a mild case of fistula as well. He's still a laborious breather and can only hold down very small meals. If he eats alot he will sometimes vomit back part of his meal. In addition his stomach is very sensitive and he will often have mild tummy aches that bother him, but he deals with them quite pluckily.

Thanks so much for any information/help.


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