Heredopatia atática polineuritiforme

Spina-França, A.; Anghinah, A.; Mattosinho-França, L. C.

doi:10.1590/S0004-282X1968000200011

Resumos

Registro de caso de paciente com quadro mórbido relacionável ao da heredopatia atática polineuritiforme (doença de Refsum). O diagnóstico é discutido frente aos aspectos clínicos, laboratoriais e histopatológicos encontrados e sua relação com os achados referidos na literatura como próprios a essa moléstia.

The case of a patient with many of the clinical characteristics commonly referred to in Refsum's disease is reported. Ichthyosis was noted in the patient and in other members of the family. Cerebrospinal fluid proteins were normal. Serum copper and caeruloplasmin concentrations were hight, as well as transaminases. Histological findings common to neuritis interstitialis hypaertrophica were found on examination of a peripheric nerve segment obtained by biopsy. Studies on the occurrence of phytanic acid could not be carried out. The relationship between the case reported and Refsum's syndrome is discussed.

REGISTRO DE CASOS

Heredopatia atática polineuritiforme

Heredopathia atactica polyieuritiformis

A. Spina-França^I; A. Anghinah^II; L. C. Mattosinho-França^III

^IClínica Neurológica da Fac. Medicina da Univ. de São Paulo (Prof. A. Tolosa): Professor assistente e Docente Livre

^IIClínica Neurológica da Fac. Medicina da Univ. de São Paulo (Prof. A. Tolosa): Assistente

^IIIMédico-Chefe do Serviço de Anatomia Patológica do Hospital do Servidor Público Estadual de São Paulo

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RESUMO

Registro de caso de paciente com quadro mórbido relacionável ao da heredopatia atática polineuritiforme (doença de Refsum). O diagnóstico é discutido frente aos aspectos clínicos, laboratoriais e histopatológicos encontrados e sua relação com os achados referidos na literatura como próprios a essa moléstia.

SUMMARY

The case of a patient with many of the clinical characteristics commonly referred to in Refsum's disease is reported. Ichthyosis was noted in the patient and in other members of the family. Cerebrospinal fluid proteins were normal. Serum copper and caeruloplasmin concentrations were hight, as well as transaminases. Histological findings common to neuritis interstitialis hypaertrophica were found on examination of a peripheric nerve segment obtained by biopsy. Studies on the occurrence of phytanic acid could not be carried out. The relationship between the case reported and Refsum's syndrome is discussed.

Clínica Neurológica Faculdade de Medicina da Universidade de São Paulo Caixa Postal 3461 São Paulo, SP, Brasil.

1. ALEXANDER, W. S. Phytanic acid in Refsunm's syndrome. J. Neurol. Neurosurg. Psychiat. 29:412-416, 1966.
2. BONDUELLE, M.; BOUYGUES, P.; LORMEAU, G.; DELOUX, D.; LAUDAT, P. & WOLF, L. M. Maladie de Refsum: étude des lipides du sérum et des urines. Rev. Neurol. 115:933-942, 1966.
3. CAMMERMEYER, J. Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. J. Neuropath. exp. Neurol. 15:340-361, 1956.
4. ELDJARN, L.; TRY, K.; STOKKE, O.; MUNTHE-KAAS, A. W.; REFSUM, S.; STEINBERG, D.; AVIGNAN, J. & MIZE, C. Dietary effects on serum phytanic acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet i :691-693, 1966.
5. HALLGREN, B. Retinitis pigmentosa combined with congenital deafness, with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetic-statistical study. Acta psychiat. neurol. Scand. suppl. 138, 1959.
6. KLČNK, E. & KAHLKE, W. Ueber das Vorkommen der 3,7,11,15-tetramethylhexadecansaure (phytansaure) in dem Cholesterin estern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannten Genese (Verdacht auf Heredopathia atactica polyneritiformis: Refsum syndrome). Hoppe-Seyler Z. Phys. Chem. 333:133-139, 1963.
7. NEVIN, N. C.; CUMINGS, J. N. & McKEOWN, F. Refsum's syndrome: heredopathia atactica polyneurtiformis. Brain 90(11):419-428, 1967.
8. OLESEN, T. B. A case of heredopathia atactica polyneuritiformis (morbus Refsum). Acta psychiat. neurol. scand. 32:83-88, 1957.
9. REFSUM, S. Heredopathia atactica polyneuritiformis. Wld. Neurol. 1:334-372, 1980.
10. RICHTERICH, R.; van MECHELEN, P. & ROSSI, E. Refsum's disease (heredopathia atactica polyneuritiformis): an inborn error of lipid metabolism with storage of 3,7,11,15-tetramethyl hexadecanoic acid. Amer. J. Med. 39: 230-236, 1965.
11. RICHTERICH, R.; MOSER, H. & ROSSI, E. Refsum's disease (heredopathia atactica polyneuritiformis): an inborn error of metabolism with storage of 3,7,11,15-tetramethyl hexadecanoic acid. Humangenetik 1:322-332, 1965.
12. ROSENBERG, R. N. & CHUTORIAN, A. Familial optoacoustic nerve degeneration and polyneuropathy. Neurology (Minneapolis) 17:827-832, 1967.
13. THIEBAUT, F.; LEMOYNE, J. & GUILLAUMAT, L. Maladie de Refsum. Rev. Neurol. 104:152-154, 1961.
14. Van BOGAERT, L.; MECHELEN, P.; MARTIN, J. J. & GUAZZI, G. C. Sur la neuropathologie de la maladie de Refsum-Thiébaut. Rev. Neurol. 116: 229-240, 1967.
15. VELTEMA, A. N. & VERJAAL, A. Sur un cas d'hérédopathie ataxique polyneuritiforme: maladie de Refsum. Rev. Neurol. 104:15-23, 1961.
16. WELLS, R. S. & KERR, C. B. Genetic classification of ichthyosis. Arch. Dermat. 92:1-6, 1965.

Datas de Publicação

Publicação nesta coleção
14 Maio 2013
Data do Fascículo
Jun 1968

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[1] 1. ALEXANDER, W. S. Phytanic acid in Refsunm's syndrome. J. Neurol. Neurosurg. Psychiat. 29:412-416, 1966.

[2] 2. BONDUELLE, M.; BOUYGUES, P.; LORMEAU, G.; DELOUX, D.; LAUDAT, P. & WOLF, L. M. Maladie de Refsum: étude des lipides du sérum et des urines. Rev. Neurol. 115:933-942, 1966.

[3] 3. CAMMERMEYER, J. Neuropathological changes in hereditary neuropathies: manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. J. Neuropath. exp. Neurol. 15:340-361, 1956.

[4] 4. ELDJARN, L.; TRY, K.; STOKKE, O.; MUNTHE-KAAS, A. W.; REFSUM, S.; STEINBERG, D.; AVIGNAN, J. & MIZE, C. Dietary effects on serum phytanic acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet i :691-693, 1966.

[5] 5. HALLGREN, B. Retinitis pigmentosa combined with congenital deafness, with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases. A clinical and genetic-statistical study. Acta psychiat. neurol. Scand. suppl. 138, 1959.

[6] 6. KLČNK, E. & KAHLKE, W. Ueber das Vorkommen der 3,7,11,15-tetramethylhexadecansaure (phytansaure) in dem Cholesterin estern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannten Genese (Verdacht auf Heredopathia atactica polyneritiformis: Refsum syndrome). Hoppe-Seyler Z. Phys. Chem. 333:133-139, 1963.

[7] 7. NEVIN, N. C.; CUMINGS, J. N. & McKEOWN, F. Refsum's syndrome: heredopathia atactica polyneurtiformis. Brain 90(11):419-428, 1967.

[8] 8. OLESEN, T. B. A case of heredopathia atactica polyneuritiformis (morbus Refsum). Acta psychiat. neurol. scand. 32:83-88, 1957.

[9] 9. REFSUM, S. Heredopathia atactica polyneuritiformis. Wld. Neurol. 1:334-372, 1980.

[10] 10. RICHTERICH, R.; van MECHELEN, P. & ROSSI, E. Refsum's disease (heredopathia atactica polyneuritiformis): an inborn error of lipid metabolism with storage of 3,7,11,15-tetramethyl hexadecanoic acid. Amer. J. Med. 39: 230-236, 1965.

[11] 11. RICHTERICH, R.; MOSER, H. & ROSSI, E. Refsum's disease (heredopathia atactica polyneuritiformis): an inborn error of metabolism with storage of 3,7,11,15-tetramethyl hexadecanoic acid. Humangenetik 1:322-332, 1965.

[12] 12. ROSENBERG, R. N. & CHUTORIAN, A. Familial optoacoustic nerve degeneration and polyneuropathy. Neurology (Minneapolis) 17:827-832, 1967.

[13] 13. THIEBAUT, F.; LEMOYNE, J. & GUILLAUMAT, L. Maladie de Refsum. Rev. Neurol. 104:152-154, 1961.

[14] 14. Van BOGAERT, L.; MECHELEN, P.; MARTIN, J. J. & GUAZZI, G. C. Sur la neuropathologie de la maladie de Refsum-Thiébaut. Rev. Neurol. 116: 229-240, 1967.

[15] 15. VELTEMA, A. N. & VERJAAL, A. Sur un cas d'hérédopathie ataxique polyneuritiforme: maladie de Refsum. Rev. Neurol. 104:15-23, 1961.

[16] 16. WELLS, R. S. & KERR, C. B. Genetic classification of ichthyosis. Arch. Dermat. 92:1-6, 1965.