Infantile Refsum Disease Treatment in Turkey
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 Turkey, these questions and answers can help you make a confident, informed decision.
Popular choices for infantile refsum disease in Turkey include Istinye Üniversitesi Hastanesi Liv, VM Medical Park Pendik Hastanesi, Medical Park Gaziosmanpaşa, Medical Park Bahçelievler, Liv Hospital Ankara, 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 551 – USD 2,202 | 3-7 days (for initial diagnostic workup and care planning) | ~ Lifelong management (no recovery period in the traditional sense) | Know More |
| Turkey | USD 4,098 – USD 16,391 | 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 Turkey
These partner hospitals in Turkey have dedicated neurology teams and experience managing patients undergoing infantile refsum disease.
Instabul, Turkey
150 Doctors
Saanvi Malhotra is a 10-month-old girl,...
Saanvi Malhotra is a 10-month-old girl, the first child of young parents who immigrated from India. Her parents first noticed something was wrong when she was 4 months old; she wasn't reaching for toys, her eyes seemed to wander, and she was unusually floppy. By 8 months, she had lost the few motor skills she had gained. Her pediatrician referred her to a neurologist after noticing her poor growth and abnormal eye movements. The neurologist, suspecting a peroxisomal disorder, recommended genetic testing and specific biochemical tests for Infantile Refsum Disease (IRD). The diagnostic process was a long wait for blood and urine tests, followed by a confirmatory genetic panel. The experience was stressful, involving multiple clinic visits and blood draws that distressed Saanvi and her parents. The post-diagnosis outcome was a confirmed IRD diagnosis. There is no cure, but the treatment plan involved a strict diet very low in phytanic acid (found in dairy and certain meats), vitamin supplements, and physical therapy. The emotional journey was devastating. Her parents grappled with grief, guilt, and fear for their daughter's future. After the diagnosis, while heartbroken, they found a direction. They connected with a support group and focused on managing her diet and therapy, finding strength in advocacy and small improvements in her alertness.