|Signs & Symptoms
- - 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
Hearing loss and wears hearing aids
- 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.
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
- Laboratory Test and
- - Tested
negative for Williams syndrome and his micro array analysis has been normal.
- Considered diagnosis
Hereditary benign intra-epithelial dyskeratosis
Contact: Lily mom
to Levi at
troubles with e-mails send to