Infantile Refsum Disease Treatment in India
About Infantile Refsum Disease
Key Highlights
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Focuses on halting the accumulation of toxic phytanic acid in the body.Aims to preserve existing vision and hearing for as long as possible.Slows the progression of neurological damage and developmental delays.Improves overall quality of life and functional abilities through multidisciplinary support.Provides a structured, lifelong care plan tailored to the individual's needs.
Who is this surgery for?
- Diagnosis of Infantile Refsum Disease based on clinical presentation and confirmed by genetic testing or elevated blood phytanic acid levels.
- Presence of key symptoms: severe visual impairment (retinitis pigmentosa), hearing loss, developmental delays, low muscle tone (hypotonia), and liver dysfunction.
- Progressive neurological deterioration or failure to meet developmental milestones in infancy or early childhood.
- Identification through newborn screening (where available) showing abnormal very-long-chain fatty acid profiles.
How to prepare
- Comprehensive diagnostic evaluation including blood tests for phytanic acid, genetic counseling, and metabolic panel.
- Baseline assessments: detailed neurological exam, vision and hearing tests, and liver function tests.
- Consultation with a metabolic dietitian to plan a strict phytanic acid-restricted diet.
- Formation of a multidisciplinary care team (neurologist, ophthalmologist, audiologist, physiotherapist).
- Education for parents/caregivers about the disease, dietary management, and long-term care requirements.
Risks & possible complications
- Progressive and irreversible vision loss (retinitis pigmentosa) despite management.
- Progressive sensorineural hearing loss leading to deafness.
- Neurological complications including seizures, intellectual disability, and peripheral neuropathy.
- Liver dysfunction and potential for cirrhosis over time.
- Growth failure and nutritional deficiencies due to restrictive dietary management.
- Bone abnormalities (osteoporosis) and skeletal issues.
Recovery & hospital stay
- Management is lifelong, with no cure; 'recovery' refers to stabilization and supportive care.
- Strict, lifelong adherence to a specialized diet low in phytanic acid (avoiding dairy, beef, lamb, and certain fish).
- Regular follow-ups with the neurologist and multidisciplinary team for monitoring of vision, hearing, neurology, and nutrition.
- Ongoing physical, occupational, and speech therapy to maximize motor function and communication skills.
- Use of supportive devices like hearing aids, visual aids, and mobility assistance as needed.
- Psychological and social support for the patient and family to cope with a chronic condition.
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Typical hospital stay:
3-7 days (for initial diagnostic workup and care planning)
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Expected recovery time:
Lifelong management (no recovery period in the traditional sense)
Frequently Asked Questions
If you are considering infantile refsum disease in India, these questions and answers can help you make a confident, informed decision.
Popular choices for infantile refsum disease in India include Medanta The Medicity, Manipal Hospital Gurgaon, Manipal Hospital Jayanagar, Manipal Hospital Kharadi, KMC Hospital Mangalore, known for experienced specialists and advanced surgical infrastructure.
Look at the doctor’s years of experience, hospital association, patient reviews, and how often they perform infantile refsum disease. MediFyr helps you compare neurologists and book consultations online.
The overall cost depends on hospital category, surgeon’s experience, room type, implant or device used (if any), length of stay, tests, and post-operative care. Our team can help you get cost estimates from multiple hospitals before you decide.
Procedure cost in other countries
Here is an overview of how the estimated cost, hospital stay, and recovery time for infantile refsum disease compare across other countries where we have data.
| Country | Estimated cost range | Typical stay | Recovery time | View details |
|---|---|---|---|---|
| India | USD 544 – USD 2,175 | 3-7 days (for initial diagnostic workup and care planning) | ~ Lifelong management (no recovery period in the traditional sense) | Know More |
| Turkey | USD 4,026 – USD 16,105 | 3-7 days (for initial diagnostic workup and care planning) | ~ Lifelong management (no recovery period in the traditional sense) | Know More |
Top hospitals for Infantile Refsum Disease in India
These partner hospitals in India have dedicated neurology teams and experience managing patients undergoing infantile refsum disease.
Gurgaon, India
60 Doctors
Had my gallbladder out last week....
Had my gallbladder out last week. The surgery itself was fine, but the first two days after were rough. Dr. Madhumitha was really on top of my pain meds, adjusting them a few times until it was manageable. She checked on me every morning and evening at MGM, which helped a lot. I'm home now and the recovery is going okay, just taking it slow.
Neurologists for Infantile Refsum Disease
Explore experienced neurologists who regularly perform infantile refsum disease and provide pre- and post-operative care in India.
- 21 Years Experience
- Neurologist
Medanta Hospital Gurgaon
- 20 Years Experience
- Neurologist
Manipal Hospital Old Airport Road
- 20 Years Experience
- Neurologist
Medanta Hospital Gurgaon
- 16 Years Experience
- Neurologist
Manipal Hospital Old Airport Road
- 15 Years Experience
- Neurologist
Manipal Hospital Old Airport Road
- 14 Years Experience
- Neurologist
Metro Hospital Noida Sector 11
- 13 Years Experience
- Neurologist
Metro Hospital Noida Sector 11
- 10 Years Experience
- Neurologist
Medanta Hospital Gurgaon
- 10 Years Experience
- Neurologist
Medanta Hospital Gurgaon
- 10 Years Experience
- Neurologist
Medanta Hospital Gurgaon
- 10 Years Experience
- Neurologist
Medanta Hospital Gurgaon
- 8 Years Experience
- Neurologist
Miot Hospital Chennai
- 6 Years Experience
- Neurologist
Metro Hospital Faridabad
- 6 Years Experience
- Neurologist
Miot Hospital Chennai
- 38 Years Experience
- Neurologist
Manipal Hospital Dwarka
- 26 Years Experience
- Neurologist
Manipal Hospital Mukundapur
- 12 Years Experience
- Neurologist
Manipal Hospital Mukundapur
- 25 Years Experience
- Neurologist
Manipal Hospital Dhakuria
- 11 Years Experience
- Neurologist
Manipal Hospital Kharadi
- 15 Years Experience
- Neurologist
Manipal Hospital Dwarka