Abstract
Chanarin-Dorfman Syndrome (CDS) is a rare health issue that builds up neutral fats in the body. It shows up not just in one way but in many forms, such as thick, scaly skin (ichthyosis), a big liver (hepatomegaly), and muscle issues (myopathy).
Its main signs show hearing loss is one part not often seen, but it is big on how well one lives. This article looks at the hearing details for CDS patients, goes over how to know if one has it, and sets out plans on how to deal with it using hearing tools, ear implants, and team-based help.
Introduction
Chanarin-Dorfman Syndrome (CDS) is a rare lipid storage disorder first described by Dorfman et al. and Chanarin et al. in the 1970s.1,2 The disease results from mutations in the ABHD5 gene, leading to defective triglyceride metabolism and lipid accumulation in multiple tissues.3 Clinical features often include non-bullous ichthyosiform erythroderma, hepatomegaly, cataracts, myopathy, and neurological abnormalities.4
Hearing loss is often not seen in people with CDS, even though other body changes are well known. Spotting these problems early, mostly in kids, is key to keep away from troubles in talking, words, and getting along with others.
Audiological profiles in chanarin-dorfman syndrome
Hearing loss in CDS is predominantly sensorineural, although conductive or mixed patterns have also been reported.1,3 The underlying mechanism is thought to involve lipid deposition in cochlear and auditory nerve structures, disrupting normal auditory transmission.5
Reported audiological features
- Type: Most patients present with sensorineural hearing loss (SNHL), ranging from mild to profound3
- Onset and progression: Hearing loss may be congenital, childhood-onset, or progressive with age2
- Asymmetry: In some cases, the severity of impairment differs between ears4
- Vestibular dysfunction: Less common, but may accompany auditory symptoms5
Diagnostic evaluations include:
- Pure-tone audiometry to determine severity
- Auditory Brainstem Response (ABR) for neural pathway assessment
- Otoacoustic Emissions (OAE) to detect cochlear hair cell function
Management strategies
Audiological monitoring
It's key to have ongoing checks to see how things are going and to make treatments better6
Hearing devices
- Hearing aids work well for small to middle hearing loss
- Cochlear implants are used when hearing loss is very bad and aids don't help much7
Rehabilitation
- Speech and language therapy aids kids in catching up where they are behind and boosts how they talk8
There are special help services made just for what each person needs.
Multidisciplinary approach
Involvement of audiologists, otolaryngologists, dermatologists, neurologists, and genetic specialists ensures holistic care9
Genetic counselling
Families benefit from counselling regarding inheritance, prognosis, and available interventions9
Discussion
- Hearing loss in CDS makes life hard for people who already have other health problems. Since CDS is not common, what we know about how it affects hearing comes from a few reports and small studies.1,4 The big differences in how bad and when hearing loss starts show why we need more careful studies
- New steps in ear implant tech and ways to find the problem early have made things better for those with this issue. Services that help people get back to normal and genetic advice are key in giving full care that focuses on both the patient and their family
Conclusion
Hearing loss in Chanarin-Dorfman Syndrome is key, but often not seen much. Most folks show up with sensorineural issues that differ in how bad they are, may get worse, or not be the same on both sides. Often, checking how they hear, fitting hearing aids soon, and helping them adjust can make things better. Since CDS is rare, every case that is written down helps doctors learn a lot. This shows why it's vital to spot it early and manage it with a team of experts.
Summary
- Hearing loss in CDS is mainly sensorineural, though variability exists
- Audiological evaluations such as audiometry, ABR, and OAE are essential
- Management includes hearing aids, cochlear implants, and rehabilitation
- Multidisciplinary care and genetic counselling are critical for holistic patient support
- Early recognition leads to better speech, language, and quality-of-life outcomes
FAQs
Is hearing loss common in CDS?
Yes, many patients with CDS experience sensorineural hearing loss, although the severity and onset vary.1,3
Can hearing loss in CDS be reversed?
Currently, it is irreversible. Management relies on hearing aids, cochlear implants, and rehabilitation strategies.6
How is hearing loss diagnosed in CDS patients?
Audiological tests, including audiometry, ABR, and OAE, are used to evaluate auditory function.5
Why is early detection important?
Timely intervention prevents speech and developmental delays, particularly in children.8
Do all patients with CDS require cochlear implants?
No, only those with severe to profound sensorineural hearing loss who do not benefit from hearing aids may need cochlear implantation.7
References
- Dorfman ML. Ichthyosiform Dermatosis With Systemic Lipidosis. Arch Dermatol [Internet]. 1974 [cited 2025 Sep 08]; 110(2):261. Available from: http://archderm.jamanetwork.com/article.aspx?doi=10.1001/archderm.1974.01630080059017.
- Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J [Internet]. 1975 [cited 2025 Sep 08]; 1(5957):553–5. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1672681/.
- Rizzo WB. Lipid storage diseases and hearing impairment: clinical spectrum and biochemical mechanisms. Am J Med Genet A. 2007;143A(17):2047-58.
- Arora S, Roy S, Arora D, Patil C, Jain AK. Chanarin-Dorfman Syndrome with Absent Jordan’s Anomaly. Indian J Dermatol [Internet]. 2017 [cited 2025 Sep 09]; 62(5):549. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618859/.
- Katz J, Chasin M, English K, Hood LJ, Tillery KL. Handbook of Clinical Audiology, 7e | Speech, Language, Hearing | Health Library [Internet]. [cited 2025 Sep 14]. Available from: https://slh.lwwhealthlibrary.com/book.aspx?bookid=1174.
- Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D’amico A, et al. Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients. Orphanet J Rare Dis [Internet]. 2017 [cited 2025 Sep 15]; 12:90. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427600/.
- Yamamoto N, Okuyama H, Hiraumi H, Sakamoto T, Matsuura H, Ito J. The Outcome of Cochlear Implantation for Mitochondrial Disease Patients With Syndromic Hearing Loss. Otology & Neurotology [Internet]. 2015 [cited 2025 Sep 15]; 36(8):e129–33. Available from: https://journals.lww.com/00129492-201509000-00013.
- Paul R, Norbury CF. Language Disorders From Infancy Through Adolescence: Listening, Speaking, Reading, Writing, and Communicating. 5th ed. Elsevier; 2019.
- Fukao T, Mitchell GA, Sass JO. Disorders of lipids and lipoproteins. In: Saudubray JM, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases. 6th ed. Springer; 2016. p. 369-87.
