Mirriam

July 2 2000

 
 

Diagnosed on November 2005
"Smith-Magenis Syndrome"
http://www.prisms.org

Growth
- Normal growth up to 6th months old (25th%)
- Growth dropped by 9 months, (height and weight recovered to 10th%)
Head
- Microcephaly (under 2nd percentile)
Ears
- Hearing difficulty resolved by ear tubes 9/02
Eyes
- One eye tracks behind the other
Teeth
- Under bite
Skin
- Nevous sebacious on scalp
- Some abnormal skin pigmentation on torso
 
Limb
- Mild hyperextendability and laxity of all major joints
Respitory System
- Chronic upper respiratory infections prior to 2 years old
- Possible disrupted breathing while sleeping.
Vascular
- Possible poor circulation in legs, feet and hands sometimes very cold and/or purple
Hematological System
- Hemoglobin E trait
Neurological Structural
- Possible seizure as infant. (unconfirmed, to er as choking incident. EEG found no signs of abnormality)
- Occasional tremors, usually in the morning (uncontrollable shaking, unable to hold things, sometimes unable to stand)
 
Neurological Functional
- Global developmental delays
- Pervasive mild hypotonia
- Speech & Fine Motor 15m, Cognitive/Social 18m, Gross Motor 20m
- Periods of severe self-injury. Head banging, hand and arm biting
- Possible decreased pain sensitivity, does not react consistently to pain.
- Interrupted sleep pattern, screams herself to sleep, and wakes up often
 
Personality
- Hyperkinetic, constant activity
- Very social
Misc.
- Sticks things in nose to point of injury
- Laughing causes hiccups
- Grinds teeth & pops jaw
- Compulsively carries things. Not like a 'lovie', more like she doesn't like having her hands empty.
- Occasional high fevers at night prior to 2 years old
 
Laboratory Test and Findings
Negative test results:
- MRI
- EEG
- Lead screen
- Xrays
- Newborn metabolic screen (except for Hemoglobin E)
- Thalassemia
- Eye exam
- Biotinidase deficiency
- Tuberous sclerosis
- Urine metabolic screen
- Serologic amino acid screen
- Glucose levels
- Normal Chromosome map and FISH for VCFS & Smith-Magenis
- Ruled out: Rett Syndrome

Contact: Charlene mom to Mirriam charham@gmail.com
Mirriam's Page:
http://miri.tezhme.net/

Any troubles with e-mails send to amy76jo@yahoo.com