Levi

August 26 2006

 
 
Signs & Symptoms
 
Birth
- Born full term at 6lbs 5 oz.
- NICU for RDS for 3 days 02and r/o sepsis
- CXR patchy infiltrates that resolved.
- All labs normal.
- Thrush and bilateral conjunctivitis/
- After discharge thrush (with proper treatment) failed to improve as well as the conjunctivitis.
- Failed to regain birth weight at 2 weeks and he was re-admitted.
- Diagnosed with hyper calculi hyper calcemia with poor weight gain and poor feeding as well as oral mucosal abnormalities and persistent conjunctivitis.
- Was on Ca depleted TPN and the hyper calcemia resolved. Over time, the hypocalcaemia has resolved completely.
 
Build / Stature
- Weight 17lbs at 2 years of age
 
Ears
- Hearing loss and wears hearing aids
 
Eyes
- Impaired vision
- Extreme photophobia
- Corneal cloudy
- His eyes are always red and cause him a great deal of pain
- A conjunctival biopsy was done which showed inflammatory cells in all layers of the conjunctiva.
 
Mouth
- Continued oral leukoplakia and oral aversion. At this point, he drinks from a sippy cup and eats pureed foods. We've had him off the feeding tube for a couple of months.
 
Laboratory Test and Findings
- Tested negative for Williams syndrome and his micro array analysis has been normal.
 
Considered diagnosis are :
Hereditary benign intra-epithelial dyskeratosis
Dyskeratosis Congenita
 

Contact: Lily mom to Levi at nineofus@ymail.com

Website:  www.caringbridge.org/visit/leviwahl

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