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

Any troubles with e-mails send to swanusa@undiagnosed-usa.org