Refsum’s disease: management
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Refsum’s disease: management. Serum phytanic acid, Magnetic resonance imaging (MRI) brain, Cerebrospinal fluid (CSF). Fully referenced neurology checklist.
Investigations
- Serum phytanic acid
- Magnetic resonance imaging (MRI) brain
- Cerebrospinal fluid (CSF)
- Nerve conduction studies (NCS)
- Nerve biopsy
Treatment
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References
- Ruether K, Baldwin E, Casteels M, et al. Adult Refsum's disease: a form of taporetinal dystrophy accessible to therapy. Surv Ophthalmol 2010; 55:531-538.
- Jayaram H, Downes SM. Midlife diagnosis of Refsum's disease in siblings with retinitis pigmentosa-the footprint is the clue: a case report. J Med Case Reports 2008; 2:80.
- Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
- Poll-The BT, Gärtner J. Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders. Biochim Biophys Acta 2012; 1822:1421-1429.
- Fogel BL, Perlman S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 2007; 6:245-257.
