Refsum’s Disease and Cochlear Implantation

@article{Nogueira2014RefsumsDA,
  title={Refsum’s Disease and Cochlear Implantation},
  author={Cl{\'a}udia Nogueira and Thomasina Meehan and Gerard M. O'Donoghue},
  journal={Annals of Otology, Rhinology \& Laryngology},
  year={2014},
  volume={123},
  pages={425 - 427}
}
Objectives: The objective was to describe a case of bilateral cochlear implantation in a 59-year-old man with hearing and visual impairment due to Refsum’s disease. Method: A retrospective case review was performed. Results: After cochlear implantation, the patient demonstrated much improved audiometric performance and reported improved sound localization. Conclusions: Bilateral cochlear implantation is an important strategy in the improvement of hearing and quality of life in individuals with… 
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Cochlear Implantation in Siblings With Refsum’s Disease
TLDR
Cochlear implantation in case of severe hearing loss leads to an improvement in speech perception and should be recommended for patients with Refsum’s disease, especially when the hearing loss is combined with a severe loss of vision.
Cochlear Implantation in Refsum Disease with Facial Nerve Enlargement.
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A 58-year-old man with debilitating manifestations of Refsum disease was referred to the authors' department with severely impaired speech comprehension despite hearing aid use and elected to receive a cochlear implant in the left ear.
Audiological findings in Infantile Refsum disease.
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  • Saransh Jain, V. Narne
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    Emerging Trends in the Diagnosis and Intervention of Neurodevelopmental Disorders
  • 2019
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In this chapter, the authors highlight the possible relationship between underlying cause and the resultant audiological symptoms in some of the rare neurodevelopmental disorders.
Auditory Profile of Children With Some Rare Neurodevelopmental Disorders
  • Saransh Jain, V. Narne
  • Medicine, Psychology
    Research Anthology on Pediatric and Adolescent Medicine
  • 2022
TLDR
In this chapter, the authors highlight the possible relationship between underlying cause and the resultant audiological symptoms in some of the rare neurodevelopmental disorders.
Refsum Disease (Heredopathia Atactica Polyneuritiformis)

References

SHOWING 1-10 OF 10 REFERENCES
Cochlear implantation in Refsum's disease
TLDR
Two patients with Refsum's disease who underwent successful cochlear implantation had good audiological outcomes after implantation and were overall very satisfied, suggesting Bilateral implantation should be considered with patients with severe dual sensory loss.
The site of the hearing loss in Refsum's disease.
Hearing loss in adult Refsum's disease.
TLDR
Patients with Refsum's disease who report hearing difficulties should have full audiometric investigations in order to provide appropriate audiological rehabilitation, according to the site of origin of the hearing loss.
Tinnitus suppression in cochlear implant patients.
  • J. Ito
  • Medicine
    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
  • 1997
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
TLDR
Dietary modification with regular reinforcement in Adult Refsum Disease can significantly reduce phytanic acid levels with time.
Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene
TLDR
Biochemically, the finding that Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase (PhyH), a peroxisomal protein catalyzing the first step in the α-oxidation ofphytanic acid is confirmed.
Identification of PEX7 as the second gene involved in Refsum disease.
TLDR
The data show that mutations in the PEX7 gene may result in a broad clinical spectrum ranging from severe rhizomelic chondrodysplasia punctata to relatively mild RD and that clinical diagnosis of conditions involving retinitis pigmentosa, ataxia, and polyneuropathy may require a full screen of peroxisomal functions.
A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARalpha-dependent and -independent pathways.
TLDR
Findings are especially relevant for disorders in which branched-chain fatty acids accumulate, such as Refsum disease and peroxisome biogenesis disorders, because PPARalpha is likely involved in the regulation of carnitine homeostasis.
Heredopathia atactica polyneuritiformis.
  • S. Refsum
  • Biology, Medicine
    Acta genetica et statistica medica
  • 1957
TOXIC AMBLYOPIA DURING ANTIDEPRESSANT TREATMENT WITH PHENIPRAZINE (CATRAN®)
  • E. Frandsen
  • Psychology
    Acta psychiatrica Scandinavica
  • 1962