Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Sphingosine Phosphate Lyase Insufficiency Syndrome

System/ConcernEvaluationComment
Steroid-resistant
nephrotic
syndrome 		Referral to nephrologist
  • Serum creatinine/BUN; urine protein/creatinine; renal ultrasound
  • May require kidney biopsy
Primary adrenal
insufficiency 		Endocrinology referral
  • Early morning ACTH & cortisol
  • Serum electrolytes
  • Plasma renin activity
  • Adrenal ultrasound; ACTH stimulation test if baseline results borderline
Hypothyroidism Serum TSH & free T4
Testicular
insufficiency 		Age-related lab investigations: luteinizing hormone, follicle-stimulating hormone, testosterone, serum inhibin B, anti-müllerian hormone
Immunodeficiency 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 teamInitiation of tube feeding if needed
Neurologic
involvement 		Neurologic exam
  • Assess for UMN involvement (spasticity, ↑ DTRs) & LMN involvement (strength, sensation, DTRs); if abnormal consider EMG & NCV.
  • Consider EEG if seizures are a concern.
  • Brain MRI if not previously performed
Musculoskeletal Orthopedics / physical medicine & rehab / PT & OT evalTo incl assessment of:
  • 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)
Hearing Audiologic evalFor sensorineural hearing loss
Speech Speech & language pathology assessmentFor those w/DD &/or hearing loss
Development Developmental assessmentTo incl:
  • Motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Ichthyosis/
Acanthosis 		Dermatology referral if skin abnormalities
Genetic
counseling 		By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of SPLIS to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ACTH = adrenocorticotropic hormone; ADL = activities of daily living; DD = developmental delay; DTRs = deep tendon reflexes; EEG = electroencephalogram; EMG = electromyogram; LMN = lower motor neuron; MOI = mode of inheritance; NCV = nerve conduction velocity; OT = occupational therapy; PT = physical therapy; TSH = thyroid stimulating hormone; UMN = upper motor neuron

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Sphingosine Phosphate Lyase Insufficiency Syndrome

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