How to Manage?

To establish the extent of disease and needs in an individual diagnosed with sphingosine phosphate lyase insufficiency syndrome (SPLIS), several evaluations are recommended.

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Referral to nephrologist

• Serum creatinine/BUN; urine protein/creatinine; renal ultrasound
• May require kidney biopsy

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Endocrinology referral

• Early morning ACTH & cortisol
• Serum electrolytes
• Plasma renin activity
• Adrenal ultrasound; ACTH stimulation test if baseline results borderline

Developmental assessment

• Motor, adaptive, cognitive, & speech/language eval
• Eval for early intervention / special education

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Consider referral to immunologist

• T-, B-, & NK-cell subset analysis
• Serum immunoglobulins
• T-cell proliferation assays
• Antibody titers to vaccinations; poor weight gain; failure to thrive; eval by gastroenterology, nutrition, feeding team; initiation of tube feeding if needed.

Orthopedics / physical medicine & rehab

• Gross motor & fine motor skills
• Contractures & kyphoscoliosis
• Mobility, ADL, & need for adaptive devices
• Need for PT (to improve gross motor skills) &/or OT (to improve fine motor skills)

Neurologic exam

•Audiology/hearing test
•Consider EEG if seizures are a concern.
•Brain MRI if not previously performed.
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For the details on the treatment of manifestations, surveillance, agents/circumstances to avoid, evaluation of relatives at risk, and therapies under investigation, click "Access Article".

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