Tuesday, December 18, 2007

Down right charming, so why another potential syndrome?

The results of Elliot’s MRI, MRA, and MRV are in. It seems, albeit as charming and perfect as Elliot is, that he may indeed have another syndrome. Two possibilities, one familial, were mentioned in the report. Needless to say, what the doctors were looking for: a possible venous malformation causing what they keep referring to as “prominent head veins,” poses no threat. His head is just his head – containing a prominent vein structure! What does concern doctors is this:

Elliot has a potential for having Dandy-Walker syndrome: "Dandy-Walker syndrome is a congenital malformation involving cerebellum and the cavity in the brain called fourth ventricle. The disease is characterized by the abnormal widening of fourth ventricle, one of the cavities which Central Nervous system fluid (liqour cerebri) takes place and congenital agenezis of vermis (mid-portion of both cerebellar hemispheres). And consequently a cystic dilatation of fourth ventricle towards the posterior cranial fossa occurs. In addition a clinical situation known as hydrocephalus (increased CNS-fluid and abnormal enlargement of head circumference) may be present. It has been proposed that disease is due to generalized dysembriogenesis involving fourth ventricle's upper wall (during foetal development in pregnancy). Cerebellar hemispheres are also hypoplastic and placed towards cerebral margins. Hydrocephalus occurs in 70 percent of patients because of congenitally obstructed Luschka and Magendie foramens which provide CNS-fluid drainage in normal humans. That obstruction leads an abnormal increase in CNS fluid and head circumference."

Technical junk, huh?

What I find to be interesting is that Elliot does not exhibit a great deal of the clinical symptoms of the syndrome, with the exception of hydrocephalus – which, until further evaluation, may or may not even be hydrocephalus. He is hypotonic, but hell, most kids with the presence of an extra chromosome are. Additionally, thyroid disorder, which Elliot has dealt with since birth because of ME, can present with hydrocephalus. Perhaps he has had it all along and it is getting better as his thyroid antibodies are now gone (it may have never been seen before - his head circ. is spot on normal). Who knows!

What scares me is the fact that this disorder, unlike the other one mentioned (namely “Joubert Syndrome”) is familial, meaning that the likelihood of Isaac developing the condition is 25%. Until we visit the dreaded neurology office (which could be months on down the road), we will know nothing…nothing at all.

So, you ask, what are the clinical symptoms of this condition?

"The symptoms of the disease begin in the early childhood. The major clinical symptoms are neuromotor retardation (delay in normal neural and muscle tonus development), mental retardation and hyrocephalus. That means delayed development of Central Nervous System and locomotor system resulting in abnormal muscle tonus called "spasticity." Mental and intellectual functions are depressed in half of patients. The other 50% may have normal cognitive functions. Degree of symptoms depends on gravity of congenital disease. If the child has severe malformations from birth the signs may appear at early ages. But sometimes disease may be unnoticed until adult ages. Sometimes the only symptom can be the abnormal enlargement of head. Some children may also present with the signs of increased intracranial pressure such as vomiting, convulsions, agitation or signs of impaired cerebellar function such as equilibrium problems, dizziness and abnormal eye movements named nistagmus."

Long story short, all of this scares the living daylights out of me. I won’t bother to divulge much regarding the other syndrome mentioned. And, you know, they were just mentioned from a radiologist’s standpoint. It is, as a dear friend pointed out to me, a radiologist’s job to uncover “potentials.” Right? Gosh, I certainly hope so, because, as I noted, I am a basket case. Does wonders for my Fibromyalgia!

I love you, my Wee E, no matter what!

Please continue praying for my dear boy.


Kari said...

I read you blog occasionally and wanted to unlurk to let you know your in my prayers. Hopefully when you see neurology you will get good news. I'll keep your sweet boy in my prayers!!

Stephanie said...

Ok, ummm, questions? If E is MR from the T21, how would they (the doctors) determine MR from this new diagnosis? And how is this diagnosis determined? Is there a blood test? But a lot of these sypmtoms are also characteristics of T21, so hmmmmmmmm. Anyhoo, HUGS to you.

Tamara said...

Michelle -

Having a hard time understanding all about this one - but wanted you to know you're both in our thoughts and prayers --

Tamara & Shawen

Nicole said...

Praying for Elliott honey..and YOU! Love, Nicole

mum2brady said...

Praying for Elliot! And - I have a local friend who's little girl has both DS and Dandy Walker... If you want to email me, I can put her in touch with you! Her little girl is darling and so dang smart. Let me know!

Praying for your cute boy and sending lots of positive thoughts!

Christina said...

Keeping you guys in our thoughts! Hang in there momma, E will be just fine, just look at him, SO cute!

~Melissa~ said...

Oh Michelle - that is a lot of overwhelming information. I hope you get some answers quickly and it turns out to be nothing of too much concern. Sweet E is in my prayers. YOU are too!

Michelle said...

I hope you don't actually have to wait that long for an appt with the neuro, seems they would get you in sooner to go over the results. And it also seems like it would be hard to dx DW if he has some of those symptoms anyway due to either Ds or the thyroid...all so much to take in! Praying for you and Elliot!

amy flege said...

michelle... alot of that is all greek to me!! all i know is that elliot is elliot and we love him no matter what. I wouldnt worry to much. i think he has things in his favor because so many symptoms he has are also related to his DS. hang in there honey!! hugs!

Michelle said...

I can't imagine having to digest all of this informaiton. I hope you get answers soon. Keeping Elliot, you and your dear family in my prayers.

Love, Michelle