Description
Sammy has Multi- organ involvement.
Prolonged jaundice with unconjugated hyperbilirubinemia in the newborn period.
At three weeks bilirubin, AST and ALT normal. At 12 months elevated transaminases AST, ALT, myoglobin and CK.
Suspected left ventricular hypotrophy.
At three years of age Sammy has similar clinical picture as older brother Samson. Until approximately 2 years normal psychomotor development except for speech delay. Now symptoms of balance and coordination difficulties. Very clumsy and falls frequently. Symptoms of weaknesss.
Symptoms / Signs
- Delayed speech
- Mild delayed cognitive development
- Coordination and balance disturbance
Current Treatments
- None
Prior Treatments
- None
Considered treatments
- None
Previously Considered Diagnoses
- Not completely evaluated
Genetic Variants of Interest
- SPNS1
Contact
If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org
