Table 5.

IDEDNIK Syndrome: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Enteropathy Dietary modification & potential parenteral supplementation (e.g., thickened 3232A formula [Mead Johnson] or RCF formula [Abbott Nutrition])
Poor weight gain
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval &/or radiographic swallowing study when showing clinical signs or symptoms of dysphagia
Skin manifestations Treatment options:
  • Low-dose oral acitretin
  • Skin emollients & topical lactic acid (2%)
  • Frequent emollient applications & short courses of topical corticosteroids or pimecrolimus ointment
  • 50% urea ointments on palmoplantar skin can result in modest benefit.
These treatments may lead to some improvement of skin manifestations.
Developmental delay /
Intellectual disability /
Neurobehavioral issues 		See Developmental Delay / Intellectual Disability Management Issues.
Sensorineural hearing loss Hearing aids may be helpful, per otolaryngologist.Community hearing services through early intervention or school district
Seizures Standardized treatment w/ASM by experienced neurologist
  • Many ASMs may be effective; phenobarbital has been demonstrated effective in 2 persons w/this disorder.
  • Education of parents/caregivers 1
Peripheral neuropathy Supportive treatments as indicated
Liver disease Supportive treatment as needed
Recurrent infections Standard treatment per ENT, immunologist, &/or infectious disease specialist
Hematologic
  • Supportive treatment as indicated
  • Occasionally, transfusion may be necessary.
Eyes Standard treatment of cataracts & other ocular manifestations per ophthalmologist
Genitourinary Treatment of cryptorchidism per urologist
Endocrine Treatment of hypothyroidism & growth hormone deficiency per endocrinologist
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement &/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

ASM = anti-seizure medication; OT = occupational therapy; PT = physical therapy; RCF = Ross carbohydrate free

1.

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

From: IDEDNIK Syndrome

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.