Table 14. [Treatment of Manifestations in Individuals with MPS IVB]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Cloudy corneas	Keratoplasty when corneal clouding causes vision impairment	Results may be temporary.
Mobility	Orthopedics / physical medicine & rehab / PT & OT	To optimize mobility & autonomy
Upper- extremity disability	External wrist splints Wrist fusion to stabilize wrist range of motion
Lower- extremity misalignment	Realignment osteotomies Surgical tethering of growth plate if detected before growth plate closure Distal femoral & proximal tibial osteotomies if misalignment detected after growth plate closure Distal tibial osteotomy for ankle misalignment
Hip dysplasia	Hip reconstruction to optimize mobility & ↓ pain	Consider intervention if refractory pain, ↓ walking or endurance.
Odontoid hypoplasia	Occipitocervical decompression & fusion may be indicated if upper cervical spine instability or cervical cord compression	Decompression vs spinal stabilization w/cervical or occipital-cervical fusion should be considered based on imaging.
Kyphosis	Bracing to delay surgical intervention Spinal fusion if stenosis occurs	Consider surgical intervention if intractable pain.
Respiratory	Adenoidectomy & tonsillectomy to treat upper-airway obstruction	Adenoidectomy & tonsillectomy are recommended as early as possible after diagnosis for persons w/otitis media, snoring, &/or OSA.
Tracheostomy, CPAP, BiPAP if diffuse airway narrowing	Consider early sleep study to determine if CPAP or BiPAP is appropriate.
Bronchodilators to manage lower-airway obstruction
Cardiac involvement	Standard care as directed by cardiologist	Valve replacement if clinically necessary
Anesthetic risk ¹	Preoperative eval to incl: history of complications w/previous anesthetics; assessment of upper & lower airway anatomy; cardiac & respiratory function Use preoperative sedative premedication w/caution & appropriate monitoring, due to risk of upper-airway obstruction. Anterior tongue placement, intubation w/video laryngoscope or fiber-optic bronchoscopy, & smaller-than-expected endotracheal tubes are often required. For procedures lasting >45 min, intraoperative spinal cord monitoring may be needed to detect exacerbation of preexisting spinal stenosis. Post-operative management may be complicated by preexisting sleep apnea &/or pulmonary edema.	Review flexion/extension radiographs of lateral cervical spine prior to anesthesia to evaluate for cervical spine instability. Maintain cervical spine stabilization & neutral neck position at all times during all surgeries. Maintain mean arterial pressure to ↓ risk of spinal cord injury. Care by experienced pediatric anesthesiologist capable of inspecting the airway before extubation & performing reintubation if necessary
Psychosocial	Educational supports to optimize learning (See Developmental Delay / Intellectual Disability Management Issues.) Psychological support to optimize coping skills & quality of life Occupational counseling
Family support	Home care for those w/multiple medical equipment needs

Manifestation/
Concern

Treatment

Considerations/Other

Cloudy
corneas

Keratoplasty when corneal clouding causes vision impairment

Results may be temporary.

Mobility

Orthopedics / physical medicine & rehab / PT & OT

To optimize mobility & autonomy

Upper-
extremity
disability

External wrist splints
Wrist fusion to stabilize wrist range of motion

Lower-
extremity
misalignment

Realignment osteotomies
Surgical tethering of growth plate if detected before growth plate closure
Distal femoral & proximal tibial osteotomies if misalignment detected after growth plate closure
Distal tibial osteotomy for ankle misalignment

Hip dysplasia

Hip reconstruction to optimize mobility & ↓ pain

Consider intervention if refractory pain, ↓ walking or endurance.

Odontoid
hypoplasia

Occipitocervical decompression & fusion may be indicated if upper cervical spine instability or cervical cord compression

Decompression vs spinal stabilization w/cervical or occipital-cervical fusion should be considered based on imaging.

Kyphosis

Bracing to delay surgical intervention
Spinal fusion if stenosis occurs

Consider surgical intervention if intractable pain.

Respiratory

Adenoidectomy & tonsillectomy to treat upper-airway obstruction

Adenoidectomy & tonsillectomy are recommended as early as possible after diagnosis for persons w/otitis media, snoring, &/or OSA.

Tracheostomy, CPAP, BiPAP if diffuse airway narrowing

Consider early sleep study to determine if CPAP or BiPAP is appropriate.

Bronchodilators to manage lower-airway obstruction

Cardiac
involvement

Standard care as directed by cardiologist

Valve replacement if clinically necessary

Anesthetic
risk ¹

Preoperative eval to incl: history of complications w/previous anesthetics; assessment of upper & lower airway anatomy; cardiac & respiratory function
Use preoperative sedative premedication w/caution & appropriate monitoring, due to risk of upper-airway obstruction.
Anterior tongue placement, intubation w/video laryngoscope or fiber-optic bronchoscopy, & smaller-than-expected endotracheal tubes are often required.
For procedures lasting >45 min, intraoperative spinal cord monitoring may be needed to detect exacerbation of preexisting spinal stenosis.
Post-operative management may be complicated by preexisting sleep apnea &/or pulmonary edema.

Review flexion/extension radiographs of lateral cervical spine prior to anesthesia to evaluate for cervical spine instability.
Maintain cervical spine stabilization & neutral neck position at all times during all surgeries.
Maintain mean arterial pressure to ↓ risk of spinal cord injury.
Care by experienced pediatric anesthesiologist capable of inspecting the airway before extubation & performing reintubation if necessary

Psychosocial

Educational supports to optimize learning (See Developmental Delay / Intellectual Disability Management Issues.)
Psychological support to optimize coping skills & quality of life
Occupational counseling

Family
support

Home care for those w/multiple medical equipment needs

From: GLB1-Related Disorders

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

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