Participant 102

Participant 102

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

Date of Report

Description

Multi-organ involvement.
Prolonged jaundice with unconjugated hyperbilirubinemia in newborn period. 
Persistently elevated transaminase and muscle enzymes AST, ALT, LDH, CK and myoglobin. 
Positive muscle biopsy showed autopagic vacoules. P62 immuostaining surgestive of autophagic vaoules. T2-high signal of white matter periventricular, LV-apical heart trabecuale, liver-fibrosis.
Developing normally until 2 years except for speech delay, then started showing signs of muscle weakness, motor delay with balance and coordination difficulties. 
Progressive hypermobility (ankle-contratures), progressive hypomobility in DIP-joints, MCP-joints and elbows. 
Pain in his back, heels and calfs, especially in the morning. Initially walked normally but is now toe-walking frequently. Frequent falling, chronic fatigue and exercise intolerance. 
Non progressive intellectual impairment.

 


Symptoms / Signs

  • Multi-organ involvement
  • Progressive joint hypomobility, hypermobility
  • Coordination- and balance difficulties
  • Chronic fatigue
  • Exercise intolerance
  • Myopathy
  • Tongue weakness
  • Eye drusen
  • Mild cognitive impairment, delayed cognitive development
  • Kidney stones

Current Treatments

  • None

Prior Treatments

  • None

Considered treatments

  • None

Previously Considered Diagnoses

  • Muscular dystrophy, mitochondrial disease, lysosomal disorders, glycogen storage diseases, for e g Danon disease, Pompe disease.

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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