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The effect of prednisolone in refsum’s disease
Irish Journal of Medical Science, 1989A 16 year old schoolgirl with an established peripheral neuropath (motor conduction velocity in peroneal nerve of 5 metres/sec., absent sural nerve potential and CSF protein of 160 mg%) presented with a progressive worsening to the point of physical incapacitation over the course of 23 days. Serum phytanic acid was 33 mg/100 ml.
H, Staunton, S, Murphy, P, Dervan
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Renal involvement in Refsum's disease
The American Journal of Medicine, 1981Renal hemodynamic and tubular functions were measured in a patient with Refsum's disease before and after 12 weeks of twice-weekly plasmaphereses. Percutaneous renal biopsy was performed before initiation of plasmapheresis. These studies were performed to (1) define the nature of the renal lesions and the effects of phytanic acid accumulation on renal ...
R C, Pabico +6 more
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Refsum's disease. A unique case
Journal of the American Podiatric Medical Association, 1998Refsum's disease, or heredopathia atactica polyneuritiformis, is a peroxisomal disorder leading to the accumulation of phytanic acid throughout the body. It affects sensory and motor neurons and the skeletal system. Peripheral neuropathy, ataxia, blindness, deafness, and skeletal hyperostosis are significant findings used in the diagnosis of the ...
D F, Jaffe +4 more
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La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris, 1977
Refsum's disease although rare is of great interest for it may benefit at least partially from treatment. Its clinical diagnosis depends on the association of pigmented retinitis, polyneuritis and cerebellar syndrome. It is confirmed beyond doubt by the increased C.S.F. protein and phytanemia.
J, Dry, M P, Delporte, A, Pradalier
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Refsum's disease although rare is of great interest for it may benefit at least partially from treatment. Its clinical diagnosis depends on the association of pigmented retinitis, polyneuritis and cerebellar syndrome. It is confirmed beyond doubt by the increased C.S.F. protein and phytanemia.
J, Dry, M P, Delporte, A, Pradalier
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Epidermal abnormalities in Refsum's disease
British Journal of Dermatology, 1977A female patient with severe Refsum's disease is described. She had striking ichthyosis and detailed investigations into the structure of the epidermis were performed. Light microscopy and transmission electron microscopy revealed lipid-containing vacuoles in the epidermis.
M G, Davies +3 more
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Cochlear Implantation in Siblings With Refsum’s Disease
Annals of Otology, Rhinology & Laryngology, 2017Objectives: Whether the origin of severe hearing loss in Refsum’s syndrome is caused by cochlear impairment or retrocochlear degeneration remains unclear. This case report aims to investigate hearing performance before and after cochlear implantation to shed light on this question.
Stähr, Kerstin +6 more
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Plasma exchange for Refsum's disease
Transfusion Science, 1993Five patients with Refsum's disease were treated by plasma exchange. Lowering the plasma phytanic acid by plasma exchange in patients acutely ill with Refsum's disease produced clinical improvement. Plasma exchange is indicated in Refsum's disease when there is a worsening clinical condition.
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