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Re: So many symptoms, so little help!

Posted By Ray on August 03, 1999 at 09:10:38
Hello Doctor,
Over Christmas vacation our 15 yr. old did a lot of things, finished his Hepatitis B series, went scuba diving, got a terrible headache he never had before, and found he could not stand up with his eyes closed. He would lunge backwards or forwards and could not put out his leg to stop himself. It is like he is standing sideways on a balance beam and can only catch himself with his arms. This increased to a couple hours a day with his eyes open and then to full time. For 6 months now he has been in a wheelchair or hanging onto walls. These are his symptoms: (Capitals happened full time, small are things that come and go.)
BALANCE: Feb.- needed help to get up out of chair and stand
     Aug.- can walk 2 steps from one support to another unaided
FATIGUE: Feb.- slept 14 hrs. Straight, stayed in bed most of day.
   Aug.- sleeps 12 hr. straight, up most of the day
SHORT TERM MEMORY LOSS - 3/17 to 7/5 did not know what day it was or that he had eaten or that what he was eating was hot - kept burning himself, couldn't remember to wait till it cooled.
Confusion- 3/20 to 6/10 didn't know where he was part of the time - even at home.
COGNITIVE PROBLEMS- 3/1 - present - Can't multiply, takes time to add to 15 (hard to play cribbage), and does not understand what he has read in the newspaper. (Was in advanced Math before this.)
Stares off into space- 2/20- 4/20 couldn't get his attention; he just sat, mostly in evening.
Weakness of right side- 2/1- 5/1 couldn't crawl, right side would crumple.
Shivering- 5/1-6/15 got cold and couldn't control his movements. Also had neck pain with this.
Numbness in right thigh- 5/1 -6/1 Usually when watching TV, lasted a couple hours each time.  
Spills liquids while pouring- 7/14- present (also dribbles and right hand drops things).
Anxiety- 4/1- present - Can't get to sleep, feels antsy, and gets up and down for over an hour. Also doesn't want to be touched, needs to be alone during daytime. Gets over loaded with stimuli.
Stuttering 3/1 - present - Can't get past first letter of some easy words when tired or stressed.
Tremor 4/1 - present - intention tremor in right hand - (not as bad as it was).
JERK- 4/15 - present- (not as bad as it was) Whole body will jerk when he closes his eyes. It happens every 10 seconds for 20 to 40 min. each night as soon as he closes his eyes.
Checking out- 5/1 - present His whole body goes limp and collapses for 10 seconds to 4 min. Most of the time he can hear what is going on but just can't move. Sometimes he wakes up and doesn't know what went on. (This started out only while sitting, now it happens while standing.) Has happened 15 times a day.
Light Headed 7/1-present -Happens while already sitting down, complains of it while we are in traffic.
Blurry Vision 7/21- present - Right eye reads 4th line of eye chart, left reads seventh. Also color washed out.
There was a MRI in Jan. (normal), a child nuero in March who said Conversion Disorder because the kid was not too concerned about it. (He has been on Zoloft for depression for 3 yrs.) Blood work for March appt.: CBC, ALT SERUM, & SED RATE WEST. (22)
An EEG in May (no electrical seizures). A lyme titer in June (negative)- we live in Or. and they think it is too rare although he is a Boy Scout and camped a lot. An Adult Nuero tested for Cushings in July (neg.) and has scheduled a sleep test next week. Nuero says it is not MS because of the way the balance problem happens. Opthomoligist  ordered MRI, it was neg, (there was a little swelling of the optic nerve - doing field of vision test next week.) All this is so slow and the kid has been out of school since March, do you have any idea of what is going on? What would you be looking for? Help PLEASE!

3 Responses
Avatar universal
Posted By CCF Neuro[P] MD, RPS on August 05, 1999 at 13:26:25
Dear Ray:
Sorry to hear about your son.  Frankly it is very difficult to evaluate someone over the internet.  So, what I have to say may not be too accurate.  The sudden onset is alittle uncommon with a normal EEG and MRI studies.  It sounds like there are multiple normal lab values and I am assuming that the LP was normal.  If I put everything together it might be a couple of things.  First is a mitochondrial disorder, another would be a metabolic disorder both of which can give you myoclonic jerks and a psychiatric break.  We are currently studying several patients that had such events.  To rule these things out, I would order serum and urine organic and amino acids, serum and urine carnitines and acylcarnitines, lactate, pyruvate, and ammonia.  I may be way off the course but these things should be ruled out.
Let us know what happens, and we'll do some more reading and see if anything clicks.
CCF Neuro MD

Avatar universal
Posted By Ray on August 05, 1999 at 15:03:15
We have had a lot of trouble getting anything started with this HMO because of the conversion disorder dx. There has not been an LP. We have an adult nuero now that at least is willing to talk about something actually being wrong. What all should they check for in an LP - wouldn't want to have to redo it later.

Avatar universal
Posted By CCF Neuro[P] MD, RPS on August 05, 1999 at 17:09:08
Dear Ray:
I guess the usual labs of cell count, cell differential, protein, glucose, then I would look at lactate, pyruvate, ammonia, atypical cells, oligoclonal bands, myelin basic protein, IgG synthesis, opening pressure, and ACE level.
CCF Neuro MD

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