PArticipant 103

Participant 103

He and older brother are compound heterozygous for two variants in SPNS1 (autophagy).

Date of Report

Description

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


More pictures 

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