Table 2.

Treatment of Manifestations in Individuals with Krabbe Disease Who Have NOT Undergone Hematopoietic Stem Cell Transplantation (HSCT)

System/ConcernManifestationTreatment
Gastrointestinal Vomiting & gastroesophageal reflux disease (GERD)
  • Maintainence of upright positioning during & after feeding
  • Consideration of proton pump inhibitors in those age >1 yr
  • Nissen fundoplication w/gastrostomy tube (G-tube) placement.
Dysphagia
  • Modifying texture & thickness of foods using commercial thickening agents can help w/swallowing difficulties.
  • Swallowing ability may be improved by providing tiny tastes of food or juice several times per day in non-feeders.
  • Consideration of nasogastric tube or gastric tube placement
Constipation
  • Maintain appropriate fluid intake.
  • Consideration of osmotic laxatives &/or use of stimulant medication in those w/refractory constipation
Neurologic Spasticity
  • Baclofen & clonazepam may improve global spasticity
  • Botox injections at specific sites may be considered; spasticity typically decreases for 3-5 mos after each injection.
Neuropathic pain; seizures
  • Standard anti-seizure medications; monotherapy is preferred, if possible.
  • Gabapentin may decrease neuropathic pain & can be used for control of seizures in some.
Musculoskeletal Contractures
  • Positioning devices (wedges, rolls, and cushions) to decrease spasticity & prevent contractures
  • Physical therapy
Respiratory Excessive airway secretions
  • Chest physiotherapy
  • Postural drainage
  • Suctioning device
Genitourinary Urinary tract infections
  • Bladder massage (Crede maneuver) to encourage complete bladder emptying
  • Intermittent catheterization
Eyes Delayed pupillary response, difficulty w/upward gaze & palpebral weakness
Corneal ulcers
  • Dark glasses to help reduce photophobia
  • Eye lubricants or protective ointments
Dental Delayed dentition

Table adapted from Escolar et al [2016]

From: Krabbe Disease

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