Table 6.

Treatment of Manifestations in Individuals with Sphingosine Phosphate Lyase Insufficiency Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
Steroid-resistant nephrotic syndrome
  • Medical mgmt of kidney failure per nephrologist
  • Kidney replacement therapy if refractory to medical mgmt
Outcomes of kidney transplant are largely unknown.
Primary adrenal insufficiency By pediatric endocrinologist
  • Glucocorticoid replacement
  • Mineralocorticoid replacement as required ± sodium supplementation
  • Appropriate counseling for sick days; emergency & perioperative mgmt
Hypothyroidism Thyroxine replacement as required
Testicular
insufficiency
  • Infants w/micropenis: consider testosterone Rx to ↑ penile length & allow for urination standing up.
  • At puberty: consider need for testosterone Rx.
  • Consider counseling re potential ↓ spermatogenesis & possible sperm banking.
Immunodeficiency Care by immunologistMonitor absolute lymphocyte count over time. If proliferation is abnormal, consider avoiding live vaccines. Most affected persons have normal or near-normal T-cell function despite ↓ absolute levels. To consider: supportive therapy (e.g., IVIG) to prevent infection based on history & lab testing.
Poor weight gain /
Failure to thrive 		Search for underlying etiology, e.g., renal or endocrine problem.Consider input from nutritionist, parenteral feeding.
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Neurologic
involvement 		Seizure management
  • Rule out electrolyte disturbances & hypoglycemia.
  • Information is insufficient re specific antiseizure mgmt. Consider pyridoxine trial.
Mobility/ADL Orthopedics / physical medicine & rehab / PT & OTConsider need for positioning & mobility devices, disability parking placard.
Hearing Hearing aids may be helpful; per audiologist.Community hearing services through early intervention or school district
Speech Speech therapy
Ichthyosis Topical emollients
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Ongoing assessment of need for palliative care involvement &/or home nursing

ADL = activities of daily living; DD = developmental delay; ID = intellectual disability; OT = occupational therapy; PT = physical therapy

From: Sphingosine Phosphate Lyase Insufficiency Syndrome

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