Table 3. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Consultation w/neurologist	Due to risk for central & peripheral demyelination, seizures, & hydrocephalus
Consideration of brain imaging	To assess for hydrocephalus w/↑ intracranial pressure Consider urgent head imaging for any rapid neurologic changes.
EEG	If seizures are suspected
Musculoskeletal	Consideration of spine imaging (radiographs &/or MRI), incl C-spine images	To assess for spine instability or stenosis leading to cord compression Consultation w/neurosurgeon as indicated
Assessment of overall bone health w/consideration of 25(OH) vitamin D levels	If clinical concerns, addl testing (e.g., DXA scan) can be obtained.
Ophthalmologic	Consultation w/ophthalmologist for eval of eye complications & measurement of intraophthalmic pressure	To assess for glaucoma, corneal clouding, retinopathy, strabismus, optic nerve abnormalities, & cataracts
Cardiovascular	Consultation w/cardiologist for baseline EKG & echocardiogram	To assess for presence of cardiac hypertrophy, cardiac valve issues, arrhythmias, & hypertension
Otolaryngologic	Audiologic evaluation, w/consideration of brain stem auditory-evoked response testing	To assess for hearing loss
Consultation w/otolaryngologists if neck manipulation &/or anesthesia is needed	Consideration of direct airway visualization & C-spine imaging due to progressive airway obstruction (particularly w/neck hyperextension)
Skin	Consider consultation w/dermatologist.	For those w/severe skin involvement or concerns for secondary infections
Dental	Consider consultation w/pediatric dentist.	To assess for tooth enamel abnormalities &/or hyperplastic gums
Gastrointestinal	Assessment of growth parameters & feeding ability	Many persons w/MSD are unable to safely & efficiently meet caloric needs by mouth; consider alternate routes (e.g., gastrostomy tubes).
Consideration of baseline swallowing study	To assess for swallowing dysfunction
Abdominal ultrasound & serum liver enzyme testing ¹	To assess for hepatosplenomegaly & liver dysfunction
Respiratory	Consideration of baseline sleep study	To assess for obstructive sleep apnea
Consideration of pulmonary function assessment, end tidal CO₂, &/or bronchoscopy	To assess for obstructive &/or restrictive airway disease, central &peripheral apneas, recurrent pneumonia, & tracheomalacia
Renal/metabolic	As the renal dysfunction is under-characterized at this time, labs should be obtained as clinically indicated.	Consider consultation w/nephrologist for those w/metabolic acidosis.
Developmental	Developmental assessment	To incl assessment of age-appropriate motor, speech/language, cognitive skills
Miscellaneous/ Other	Baseline measurement of sulfatase activity, urinary extretion of sulfatide, & GAGs	Measurement of levels not needed for clinical monitoring
Consultation w/clinical geneticist &/or genetic counselor

System/Concern

Evaluation

Comment

Neurologic

Consultation w/neurologist

Due to risk for central & peripheral demyelination, seizures, & hydrocephalus

Consideration of brain imaging

To assess for hydrocephalus w/↑ intracranial pressure
Consider urgent head imaging for any rapid neurologic changes.

EEG

If seizures are suspected

Musculoskeletal

Consideration of spine imaging (radiographs &/or MRI), incl C-spine images

To assess for spine instability or stenosis leading to cord compression
Consultation w/neurosurgeon as indicated

Assessment of overall bone health w/consideration of 25(OH) vitamin D levels

If clinical concerns, addl testing (e.g., DXA scan) can be obtained.

Ophthalmologic

Consultation w/ophthalmologist for eval of eye complications & measurement of intraophthalmic pressure

To assess for glaucoma, corneal clouding, retinopathy, strabismus, optic nerve abnormalities, & cataracts

Cardiovascular

Consultation w/cardiologist for baseline EKG & echocardiogram

To assess for presence of cardiac hypertrophy, cardiac valve issues, arrhythmias, & hypertension

Otolaryngologic

Audiologic evaluation, w/consideration of brain stem auditory-evoked response testing

To assess for hearing loss

Consultation w/otolaryngologists if neck manipulation &/or anesthesia is needed

Consideration of direct airway visualization & C-spine imaging due to progressive airway obstruction (particularly w/neck hyperextension)

Skin

Consider consultation w/dermatologist.

For those w/severe skin involvement or concerns for secondary infections

Dental

Consider consultation w/pediatric dentist.

To assess for tooth enamel abnormalities &/or hyperplastic gums

Gastrointestinal

Assessment of growth parameters & feeding ability

Many persons w/MSD are unable to safely & efficiently meet caloric needs by mouth; consider alternate routes (e.g., gastrostomy tubes).

Consideration of baseline swallowing study

To assess for swallowing dysfunction

Abdominal ultrasound & serum liver enzyme testing ¹

To assess for hepatosplenomegaly & liver dysfunction

Respiratory

Consideration of baseline sleep study

To assess for obstructive sleep apnea

Consideration of pulmonary function assessment, end tidal CO₂, &/or bronchoscopy

To assess for obstructive &/or restrictive airway disease, central &peripheral apneas, recurrent pneumonia, & tracheomalacia

Renal/metabolic

As the renal dysfunction is under-characterized at this time, labs should be obtained as clinically indicated.

Consider consultation w/nephrologist for those w/metabolic acidosis.

Developmental

Developmental assessment

To incl assessment of age-appropriate motor, speech/language, cognitive skills

Miscellaneous/
Other

Baseline measurement of sulfatase activity, urinary extretion of sulfatide, & GAGs

Measurement of levels not needed for clinical monitoring

Consultation w/clinical geneticist &/or genetic counselor

From: Multiple Sulfatase Deficiency

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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