Heredopathia atactica polyneuritiformis: Refsum's disease
Corresponding Author
F. B. Gibberd
Department of Neurology, Westminster Hospital and Medical School, London, United Kingdom
F. B. Gibberd, M. D. Westminster Hospital London SWIP 2 AP United KingdomSearch for more papers by this authorJ. D. Billimoria
Department of Lipid Biology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorJ. M. Goldman
Department of Neurology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorM. E. Clemens
Department of Lipid Biology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorR. Evans
Departments of Dietetics, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorM. N. Whitelaw
Department of Neurology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorS. Retsas
Departments of Lawson Leukaphaeresis Unit, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorR. M. Sherratt
Department of Neurology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorCorresponding Author
F. B. Gibberd
Department of Neurology, Westminster Hospital and Medical School, London, United Kingdom
F. B. Gibberd, M. D. Westminster Hospital London SWIP 2 AP United KingdomSearch for more papers by this authorJ. D. Billimoria
Department of Lipid Biology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorJ. M. Goldman
Department of Neurology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorM. E. Clemens
Department of Lipid Biology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorR. Evans
Departments of Dietetics, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorM. N. Whitelaw
Department of Neurology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorS. Retsas
Departments of Lawson Leukaphaeresis Unit, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorR. M. Sherratt
Department of Neurology, Westminster Hospital and Medical School, London, United Kingdom
Search for more papers by this authorAbstract
ABSTRACT – Seven patients with Heredopathia Atactica Polyneuritiformis are described. There were 3 groups of clinical characteristics: first, congenital abnormalities such as skeletal deformities, unrelated to phytanic acid levels; second, signs and symptoms such as retinitis pigmentosa which come on slowly and are not directly related to the plasma phytanic acid level; third, lesions such as the neuropathy, rash and cardiac arrhythmias which can change quickly and are linked to the plasma phytanic acid level. Exacerbations of the signs in the third group are precipitated by a low calorie intake and mobilisation of phytanic acid from the adipose tissue. Poor vision is due not only to retinitis but also to small pupils which fail to dilate in the dark. The use of plasma exchange is discussed. With good dietary supervision it is possible to produce a considerable clinical recovery for the neuropathy.
References
- 1 Thiebaut M, Lemoyne J, Guillaumat L. Deux syndromes otoneuro-oculistiques d'origine congenitale Leurs rapports avec les phacomatoses de van der Hoeve et autres dys-phasies neuro-ecodermiques. Revue Neurologique 1939: 72: 71–75.
- 2 Thiebaut M, Lemoyne J, Guillaumat L. Maladie de Refsum. Revue Neurologique 1961: 104: 152–154.
- 3 Refsum S. Heredoataxia Hemeralopica Polyneuritiformis -et tidligere ikke beskrevet familiaert syndrom. Nordisk Me-dicin 1945: 28: 2682–2685.
- 4 Refsum S. Heredopathia Atactica Polyneuritiformis: A familial syndrome not hitherto described. A contribution to the clinical study of the hereditary disorders of the nervous system. Acta Psychiatr Scand 1946: suppl 38.
- 5 Klenk E, Kahlke W. Uber das Vorkommen der 3.7.11.15-Tetramethyl-hexadecansaure (Phytansaure) in den Cholesterinestern und anderen Lipoidfraktionen der organe bei einem Krankheitsfall unbekannter Genese (Verdact auf Heredopathia Atactica Polyneuritiformis Refsumsyn-drome). Hoppe-Seyler Zeits Physiol Chem 1963: 333: 133–139.
- 6 Stokke O, Try K, Eldjarn L. Alpha-oxidation as an alternative pathway for the degradation of branched-chained fatty acids in man, and its failure in patients with Refsum's Disease. Biochim Biophys Acta 1967: 144: 271–284.
- 7 Stokke O, Eldjarn L. Biochemical and dietary aspects of Refsum's disease. In: Dyck et al, eds. Peripheral neuropathy. Philadelphia : W. B. Saunders, 1975: 872–881.
- 8 Steinberg D. Phytanic acid storage disease: Refsum's syndrome. In: Steinberg et al, eds. Metabolic basis of inherited disease, 4th ed. New York : McGraw-Hill 1978: 687–706.
- 9 Eldjarn L, Stokke O, Try K. Biochemical aspects of Refsum's disease and principles for the dietary treatment. In: Vinken et al, eds. Handbook of clinical neurology: Metabolic and deficiency diseases of the nervous system, vol 27. Amsterdam : North Holland 1976: 519–541.
- 10 Baxter J H. Absorption of chlorophyll and phytol in normal man and in patients with Refsum's disease. J Lip Res 1968: 9: 636–641.
- 11 Gibberd F B, Billimoria J D, Page N G R, Retsas S. Heredopathia Atactica Polyneuritiformis treated by diet and plasma exchanges. Lancet 1979: i: 575–578.
- 12 Billimoria J D, Clemens M E, Gibberd F B, Whitelaw M N. Metabolism of phytanic acid in Refsum's disease. Lancet 1982: i: 194–196.
- 13 Steinberg D, Mize C E, Herndon J H, Fales H M, Engel W K, Vroom F. Phytanic acid in patients with Refsum's syndrome and response to dietary treatment. Arch Int Med 1970: 125: 75–87.
- 14 Masters-Thomas A, Bailes J, Billimoria J D, Clemens M E, Gibberd F B, Page N G R. Heredopathia Atactica Polyneuritiformis 2. Estimation of phytanic acid in food. J Hum Nutr 1980: 34: 251–254.
- 15
Brenton D P,
Krywawych S.
3-methyladipate excretion in Refsum's disease.
Lancet
1982: i: 624.
10.1016/S0140-6736(82)91780-9 Google Scholar
- 16 Diengott D, Kerpel S. New type of needle for obtaining large samples of human adipose tissue. J Lip Res 1967: 8: 58–60.
- 17 Durnin J V G A, Womersley J. Body fat assessed from total body density and its estimation from skinfold thickness measured in 481 men and women aged 16 to 72 years. Br J Nutr 1974: 32: 77–97.
- 18 Womersley J, Durnin J V G A. A comparison of the skinfold method with extent of overweight and various weight-height relationships in the assessment of obesity. Br J Nutr 1977: 38: 271–284.
- 19 Masters-Thomas A, Bailes J, Billimoria J D, Clemens M E, Gibberd F B, Page N G R. Heredopathia Atactica Polyneuritiformis. 1. Clinical features and dietary management. J Hum Nutr 1980: 34: 245–250.
- 20 Gordon N, Hudson R E B. Refsum's syndrome. Heredopathia Atactica Polyneuritiformis. A report of three cases, including a study of the cardiac pathology. Brain 1959: 82: 41–55.
- 21 Richterich R, Moser H, Rossi E. Refsum's disease (Heredopathia Atactica Polyneuritiformis). An inborn error of lipid metabolism with storage of 3, 7, 11, 15, tetramethyl hexadecanoic acid. A review of the clinical findings. Hu-mangenetik 1965: 1: 322–332.
- 22 Richterich R, Rosin S, Rossi S. Refsum's disease (Heredopathia Atactica Polyneuritiformis). An inborn error of lipid metabolism with storage of 3, 7, 11, 15, tetramethyl hexadecanoic acid. Formal genetics. Humangenetik 1965: 1: 333–336.
- 23 Wall W J H, Worthington B S. Skeletal changes in Refsum's disease. Clinical radiology 1979: 30: 657–659.
- 24 Refsum S. Clinical and genetic aspects of Refsum's disease. In: Dyck et al, eds. Peripheral neuropathy. Philadelphia : W. B. Saunders, 1975: 868–872.
- 25 Fleming R. Refsum's syndrome. An unusual hereditary neuropathy. Neurology 1957: 7: 476–479.
- 26 Ashenhurst E M, Millar J H D, Milliken T G. Refsum's syndrome affecting a brother and two sisters. Br Med J 1958: 2: 415–479.
- 27 Campbell A M, Williams E R. Refsum's syndrome in a Gloucestershire family. BrMed J 1967: 3: 777–779.
- 28 Quinlan C D, Martin E A. Refsum's syndrome: Report of three cases. J Neurol Neurosurg Psychiatry 1970: 33: 817–823.
- 29 Dykes P J, Marks R, Davies M G, Reynolds D J. Epidermal metabolism in Heredopathia Atactica Polyneuritiformis (Refsum's disease). J Invest Dermatol 1978: 70: 126–129.
- 30
Blanchet-Bardon C,
Anton-Lamprecht I,
Puissant A,
Schnyder U W.
Ultrastructural features of ichthyotic skin in Refsum's syndrome. In: The Ichthyoses. Lancaster MTP Press, 1978: 65–69.
10.1007/978-94-010-9851-9_9 Google Scholar
- 32 Kahlke W, Richterich R. Refsum's disease (Heredopathia Atactica Polyneuritiformis). An inborn error of metabolism with storage of 3, 7, 11, 15, Tetramethyl Hexadecanoic Acid II. Isolation of the storage product. Am J Med 1965: 39: 237–241.
- 33 Lundberg A, Lilja L G, Lundberg P O, Try K. Heredopathia Atactica Polyneuritiformis (Refsum's disease). Experience of dietary treatment and plasmapheresis. Eur Neurol 1972: 8: 309–324.
- 34 Penvich P E, Hollander J, Nusbacher J A, Griggs R C, MacPherson J. Note on plasma exchange therapy in Refsum's disease. In: Kark et al, eds. Advances in neurology. New York : Raven Press, 1978: 21: 151–153.
- 35 Moser H W, Braine H, Pyeritz R E, Ullman D, Murray C, Ashbury A K. Therapeutic trial of plasmapheresis in phytanic acid Refsum's disease. Birth defects. Original Article Series 1980: 16: 491–497.
- 36 Pabico R C, Gruebel B J, McKenna B A, et al. Renal involvement in Refsum's disease. Am J Med 1981: 70: 1136–1143.
- 37 Gibberd F B. Heredopathia Atactica Polyneuritiformis and its management with plasma exchange. Plasma Ther 1980: 1: 17–26.
- 38 Eldjarn L, Try K, Stokke O, et al. Dietary effects on serum phytanic acid and on clinical manifestations in heredopathia Atactica Polyneuritiformis. Lancet 1966: i: 691–693.
- 39 Dry J, Pradalier A, Delporte M-P, Leynadier F. Apropos de deux nouveaux cas de maladie de Refsum. Sem Hôpi-taux Paris 1976: 52: 1675–1681.
