Doença de Niemann-Pick forma do adulto associada a sindrome de Osler-Rendu-Weber: registro de um caso

Assis, J. Lamartine de; Scaff, Milberto; Takahashi, Walter

doi:10.1590/S0004-282X1979000100010

Resumos

É relatada a doença de Niemann-Pick forma de adulto em uma mulher de 28 anos de idade. A doença começou aos 22 anos de idade. Foram discutidas as características atualmente estabelecidas para essa forma clínica de lipidose. A visão foi comprometida desde o início mas exames clínico e neurológico repetidos foram sempre normais. A fundoscopia ocular mostrou mancha vermelho-cereja na mácula. Foram encontradas as células espumosas na medula óssea. No presente caso ocorreu associação incomum da esfingolipidose com a doença de Osler-Rendu-Weber. A evolução, até o momento, tem sido extraordinariamente benigna, com pobre participação cerebral representada por moderada atrofia cortical localizada e vista ao pneumencefalograma.

The case of a a 28-year-old female with an adult form of Niemann-Pick disease is described. The illness started at the age of 22 years. The characteristics actually established in the adult form of this lipidosis were discussed. Vision was impaired but there was no clinical evidence of important visual involvement. Neurologic and psychiatric examinations were always normal. The bone marrow contained foam cells. A cherry red spot was present in the macula. An uncommon association with Osler-Rendu-Weber disease was discribed. The patient maintained normal clinical and neurological conditions, that is, she continues to show an extraordinarily benign course with poor cerebral participation represented by a moderate localized cortical atrophy seen at the pneumoencephalogram.

Doença de Niemann-Pick forma do adulto associada a sindrome de Osler-Rendu-Weber: registro de um caso

The adult form of Neimann-Pick disease associated with Osler-Rendu-Weber syndrome: a case report

J. Lamartine de Assis^I; Milberto Scaff^I; Walter Takahashi^II

^IDo Departamento de Neuropsiquiatria (Prof. Horácio Martins Canelas) da Faculdade de Medicina da USP

^IIDo Departamento de Oftalmologia (Prof. Paulo Braga Magalhães) da Faculdade de Medicina da USP

RESUMO

É relatada a doença de Niemann-Pick forma de adulto em uma mulher de 28 anos de idade. A doença começou aos 22 anos de idade. Foram discutidas as características atualmente estabelecidas para essa forma clínica de lipidose. A visão foi comprometida desde o início mas exames clínico e neurológico repetidos foram sempre normais. A fundoscopia ocular mostrou mancha vermelho-cereja na mácula. Foram encontradas as células espumosas na medula óssea. No presente caso ocorreu associação incomum da esfingolipidose com a doença de Osler-Rendu-Weber. A evolução, até o momento, tem sido extraordinariamente benigna, com pobre participação cerebral representada por moderada atrofia cortical localizada e vista ao pneumencefalograma.

SUMMARY

The case of a a 28-year-old female with an adult form of Niemann-Pick disease is described. The illness started at the age of 22 years. The characteristics actually established in the adult form of this lipidosis were discussed. Vision was impaired but there was no clinical evidence of important visual involvement.

Neurologic and psychiatric examinations were always normal. The bone marrow contained foam cells. A cherry red spot was present in the macula. An uncommon association with Osler-Rendu-Weber disease was discribed. The patient maintained normal clinical and neurological conditions, that is, she continues to show an extraordinarily benign course with poor cerebral participation represented by a moderate localized cortical atrophy seen at the pneumoencephalogram.

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Departamento de Neuropsiquiatria, Divisão de Neurologia - Faculdade de Medicina, Universidade de São Paulo - Caixa Postal 3461 - 01000 São Paulo, SP - Brasil.

1. CROCKER, A. C. - The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J. Neurochem. 7:69, 1961.
2. CROCKER, A. C. & FARBER, S. - Niemann-Pick disease: a review of eighteen patients. In TABOTT, J. H. ed. - Medicine. Williams & Wilkins Co., Baltimore, 1958. p. 1-95.
3. GRÜNEBAUM, M. - The röentgenographic findings in the acute neuronopathic form of Niemann-Pick disease. Brit. J. Radiol. 49:1018, 1976.
4. KAMOSHITA, S.; ARON, A. M.; SUZUKI, K. & SUZUKI, K. - Infantile Niemann-Pick disease: a chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin. Amer. J. Dis. Child. 117:379. 1969.
5. KAMPINE, J. P.; BRADY, R. O. & KANFER, J. N. - Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood. Science 155:86, 1967.
6. KNUTTI, E. R. - Niemann-Pick's disease and its relationship to the lipoidoses. Calif. Med. 72:60, 1950.
7. LYNN, R. & TERRY, R. D. - Lipid histochemistry and electron microscopy in adult Niemann-Pick disease. Amer. J. Med. 37:987. 1964.
8. LACHMAN, R.; CROCKER, A.; SHULMAN, J. & STRAND, R. - Radiological findings in Niemann-Pick disease. Pediat. Radiol. (Detroit) 108:659, 1973.
9. NAUSIEDA, P. A. & KLAWANS, H. L. - Lipid storage disorders. In VINKEN, P. J. & BRUYN, G. W. eds. - Handbook of Clinical Neurology. North Holland Publ. Co. Amsterdam, 1977. Vol. 29, III parte, p. 353-356.
10. NORMAN, R. M. - Niemann-Pick disease. In VINKEN, P. J. & BRUYN, G. W. eds. - Handbook of Clinical Neurology. North Holland Publ. Co. Amsterdam, 1970. p. 484-508.
11. NORMAN, R. M.; FORRESTER, R. M. & TINGEY, A. H. - The juvenile form of Niemann-Pick disease. Arch. Dis. Childh. (London) 42:91. 1967.
12. OPPENHEIMER, D. R.; NORMAN, R. M.; TINGEY, A. H. & AHERNE, W. A. - Histological and chemical findings in juvenile Niemann-Pick disease. J. Neurol. Sci. (Amsterdam) 5:575. 1967.
13. TERRY, R. D.; SPERRY, W. M. & BRODOFF, B. - Adult lipidosis resembling Niemann-Pick's disease. Amer. J. Path. 30:263, 1954.

Datas de Publicação

Publicação nesta coleção
27 Ago 2012
Data do Fascículo
Mar 1979

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. CROCKER, A. C. - The cerebral defect in Tay-Sachs disease and Niemann-Pick disease. J. Neurochem. 7:69, 1961.

[2] 2. CROCKER, A. C. & FARBER, S. - Niemann-Pick disease: a review of eighteen patients. In TABOTT, J. H. ed. - Medicine. Williams & Wilkins Co., Baltimore, 1958. p. 1-95.

[3] 3. GRÜNEBAUM, M. - The röentgenographic findings in the acute neuronopathic form of Niemann-Pick disease. Brit. J. Radiol. 49:1018, 1976.

[4] 4. KAMOSHITA, S.; ARON, A. M.; SUZUKI, K. & SUZUKI, K. - Infantile Niemann-Pick disease: a chemical study with isolation and characterization of membranous cytoplasmic bodies and myelin. Amer. J. Dis. Child. 117:379. 1969.

[5] 5. KAMPINE, J. P.; BRADY, R. O. & KANFER, J. N. - Diagnosis of Gaucher's disease and Niemann-Pick disease with small samples of venous blood. Science 155:86, 1967.

[6] 6. KNUTTI, E. R. - Niemann-Pick's disease and its relationship to the lipoidoses. Calif. Med. 72:60, 1950.

[7] 7. LYNN, R. & TERRY, R. D. - Lipid histochemistry and electron microscopy in adult Niemann-Pick disease. Amer. J. Med. 37:987. 1964.

[8] 8. LACHMAN, R.; CROCKER, A.; SHULMAN, J. & STRAND, R. - Radiological findings in Niemann-Pick disease. Pediat. Radiol. (Detroit) 108:659, 1973.

[9] 9. NAUSIEDA, P. A. & KLAWANS, H. L. - Lipid storage disorders. In VINKEN, P. J. & BRUYN, G. W. eds. - Handbook of Clinical Neurology. North Holland Publ. Co. Amsterdam, 1977. Vol. 29, III parte, p. 353-356.

[10] 10. NORMAN, R. M. - Niemann-Pick disease. In VINKEN, P. J. & BRUYN, G. W. eds. - Handbook of Clinical Neurology. North Holland Publ. Co. Amsterdam, 1970. p. 484-508.

[11] 11. NORMAN, R. M.; FORRESTER, R. M. & TINGEY, A. H. - The juvenile form of Niemann-Pick disease. Arch. Dis. Childh. (London) 42:91. 1967.

[12] 12. OPPENHEIMER, D. R.; NORMAN, R. M.; TINGEY, A. H. & AHERNE, W. A. - Histological and chemical findings in juvenile Niemann-Pick disease. J. Neurol. Sci. (Amsterdam) 5:575. 1967.

[13] 13. TERRY, R. D.; SPERRY, W. M. & BRODOFF, B. - Adult lipidosis resembling Niemann-Pick's disease. Amer. J. Path. 30:263, 1954.