Table 2.

Features of Sphingosine Phosphate Lyase Insufficiency Syndrome

Feature# of PersonsComment
Steroid-resistant nephrotic syndrome37/46
EndocrinePrimary adrenal insufficiency31/465 who also had mineralocorticoid deficiency 1
Testicular insufficiency8/26 w/cryptorchidism &/or micropenis
Hypothyroidism6/46
Immunodeficiency31/46
Neurologic abnormalities22/46
  • Cranial nerve deficits (11/46)
  • Strabismus (6/46)
  • Ptosis (2/46)
  • Developmental delay (9/46)
  • Regression/progressive neurologic involvement (6/46)
  • Peripheral motor & sensory neuropathy (5/46)
  • Spasticity
Sensorineural hearing loss8/45
Ichthyosis/acanthosis13/46

From: Sphingosine Phosphate Lyase Insufficiency Syndrome

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