Megan

May 14 2000

 
 
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