Table 5.

Surveillance to Consider for Individuals with Multiple Sulfatase Deficiency

System/ConcernEvaluationFrequency
Neurologic Head circumference measurementAt each visit
Serial brain/spine imaging 1As needed based on symptoms
Musculoskeletal Vitamin D level 2Annually or as needed
C-spine imaging (radiographs &/or MRI)Prior to any procedure (incl intubation) that requires neck extension
Ophthalmologic Eye exam & intraocular pressure assessmentAt least annually or as needed
Cardiovascular Serial EKG & echocardiography 3At least annually
Otolaryngologic Audiology evalAt least annually, or as needed
Gastrointestinal/
Nutrition 		Weight & height measurementsW/all clinical assessments
Serial abdominal ultrasound eval 4As clinically indicated
Respiratory Consideration of sleep study& PFTsPeriodically
Renal/Metabolic Monitoring of blood & urine acid-base balanceAs clinically indicated & w/episodes of physiologic stress
Developmental Assessment of developmental milestones & current developmental levelAt each visit
Neuropsychiatric testingAs clinically indicated

PFT = pulmonary function test

1.

To screen for progressive hydrocephalus and/or cord compression

2.

To monitor bone health

3.

To monitor for cardiac hypertrophy, progressive valvular abnormalities, arrhythmia, and hypertension

4.

With special attention to the liver, gallbladder, and spleen

From: Multiple Sulfatase Deficiency

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