Description
Parents noted that he was not sensitive to burns since about age 2-3 years. He burned himself and broken his legs several times without feeling pain. He became stubborn, and wasn’t afraid of being beaten. He has had many mutilations in the toes.
Symptoms / Signs
- Many scars on the whole body
- Sequelae of broken legs
- Mutilated right toe, absent sensitivity to pin-prick and heat but hypersensitive to cold and normal light touch.
- Abnormal teething and eye pigmentation.
- Nerve conduction studies normal.
Current Treatments
- No medication
Prior Treatments
- No medication
Considered treatments
- Life style change and dietetic measures.
Previously Considered Diagnoses
- Congenital insensitivity to Pain
Genetic Variants of Interest
- SCN9A
Siblings, age & gender
Two unaffected sisters and one unaffected brother, aged of 14, 12, 10-year old, respectively.
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
Bio
Aliou is 16-year-old young boy from a small village in Mali. He is happy and kind, and creates lot of energy around him. He loves taking care of and playing with his goats.
