| Signs & Symptoms
- Significant
hypotonia of the trunk
- Intermittent hyper/hypotonia of extremities
- Mild deep philtrum (similar to her
father’s)
- Pectus Excavatum
- Ear pits ~ hearing tested normal
- Slightly high arched palate (like mother’s
~ docs say it is not too high & not too
narrow & so is considered normal
- Intention tremors/spasticity
- Early eruption of teeth
- Long eyelashes (not curled)
- Synophris (confluent eyebrows)
- High forehead (like maternal
grandfather’s)
- Pointing of toes Frog legged Delayed speech (no
vocabulary at 22 months)
- Babbling well though
- Can identify 11 body parts
- Significant delay of fine & gross motor
skills
- Has fairly good pincer grasp ~ Hand transfers
well
- Can tripod unassisted for a few seconds
- Not able to sit unassisted though can sit for a
few minutes with minimal support on legs and
bottom of trunk
- Tends to arch/lean/fall forward
- Dystonic,
spastic, tremor, hypotonia at rest, hypertonia
with effort
- Manipulates her body to roll ~ right side
(using legs & anchoring with 1 hand)
- Failure to thrive (due to cold, last episode
July 2001 3 episodes in total 1st was just before
1st birthday)
- Feeding issues ~ thicken fluids, small
portions, tends to gag if too much in mouth
- Reflux ~ Zantac ~ not controlled if upset ~
otherwise controlled for the most part
- Not yet able to weight bare
- Is very expressive, good eye contact, smiles,
stranger anxiety, happy disposition
- Bridge of nose slightly dips (like her mother)
- Small hands & feet but not disproportionate
- She does have strength in hands and (less in
legs)
- Legs have no coordination ~ she can kick out
(down if told) but can not bring legs to chest if
asked. She can move her legs but toes are usually
pointed and legs are usually spread wide.
- Weak shoulder girdle
- Clenched fists. Hands are open when sleeping,
and she is usually able to open her hands when
asked
- She struggles with a Cheerio size but can feed
it to herself with some patience.
- Perspires often when sleeping or being fed the
bottle while asleep (drinks out of a Habermann
bottle & perspiration is out of the norm. She
drips.) Good reflexes but they do seem a bit
jerky
Test:
-
MRI presented within normal ~ slightly enlarged
ventricles
- CAT Scann ~ normal
- EEG ~ normal
- Some Chrom#15 Prader Willi Syndrome
investigation done ~ normal
- Metabolic ~ normal
"Despite
Megan's various tests done of the brain
having normal results ~ doctors believe that
Megan's condition is cerebral in origin"
Contact:
Nidia mom to Megan
nid_kid@yahoo.ca
Megan's Page:
http://ca.geocities.com/nid_kid/meginha.html
Any
troubles with e-mails send to
swanusa@undiagnosed-usa.org
|
