Table 4.

Treatment of Manifestations in Individuals with Multiple Sulfatase Deficiency

Manifestation/ConcernTreatmentConsiderations/Other
Progressive hydrocephalus Standard management by neurosurgeryUrgent head imaging should be considered in anyone w/sudden changes in neurologic status (e.g., altered mental status, ↑ vomiting)
Seizures Standard anti-seizure medication 1
Spasticity Standard therapeutic options may incl baclofen &/or botulinum toxin type A.Physical therapy & physiatry consultations for optimization of mobility & tone
Spine instability or stenosis Referral to orthopedist &/or neurosurgeon
Poor bone health Supplementation w/vitamin DConsider referral to endocrinology
Encourage weight-bearing exercise as tolerated.Physical therapy & physiatry consultations for optimization of mobility & tone
Glaucoma, strabismus, corneal clouding, &/or cataracts Standard treatment per ophthalmologist
Cardiac hypertrophy, cardiac valve issues, arrhythmias, & hypertension Standard therapy per cardiologist
Hearing loss Treatment of SNHL & conductive hearing loss per ENT/audiologist 2
Anesthesia precautions Safe airway maintenance particularly during procedures that may require neck hyperextensionDue to progressive upper-airway obstruction & risk for cervical spine instability
Assessment of airway constriction so that if required, appropriate-size devices (e.g., endotracheal tubes) are used
Poor growth Standard treatment per nutrition specialists
Feeding difficulties Consideration of alternative routes for nutrition (e.g., NG or G-tube)Speech therapy consultation if concerns re efficiency or safety of oral feeding; GI or surgery consultation as clinically indicated
Tooth & gum anomalies Standard treatment per pediatric dentist
Obstructive sleep apnea Many children w/MPS receive an adenoidectomy &/or tonsillectomy, although a higher complication rate should be noted.Consider referral to sleep medicine specialist &/or pulmonologist.
Some children may benefit from ventilatory support (CPAP, BiPAP).Advanced testing such as PFTs & sleep studies can be considered.
Respiratory issues Standard treatment per pulmonologist

G = gastrostomy; NG = nasogastric; PFTs = pulmonary function tests

1.

Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

2.

See Hereditary Hearing Loss and Deafness Overview for details about treatment options.

From: Multiple Sulfatase Deficiency

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.