Hepatolenticular degeneration: analysis of neurological manifestations under treatment in 76 patients

Barbosa, Egberto R.; Scaff, Milberto; Canelas, Horácio M.

doi:10.1590/S0004-282X1991000400005

Abstracts

A series of 76 patients with hepatolenticular degeneration (HLD) followed up at the Hospital of the University of São Paulo Medical School between 1963 and 1988 have been studied focusing the evolution under treatment of neurological features. The assessment of neurological symptoms included 12. specific items, and it was made by a scoring system ranging from 0 to 3 (absent, mild, moderate and severe). Global score varied between 0 to 36. A functional disability scale (0, normal; 1, mild; 2, moderate; 3, severe) was also adopted. All patients received D-penicillamine but three of them developed serious renal toxic side-effects, and this drug was replaced by zinc (sulphate or acetate). Fifty-nine patients (77.6%) improved, 8 (10.6%) remained unchanged, and 9 (11.8%) got worse. The main features related to bad results were poor compliance, predominance of dystonic symptoms, and short time treatment (death due hepatic complications). Eight patients (10.5%) developed transient worsening of neurological symptoms during the first weeks of treatment. Three patients who have D-penicillamine replaced by zinc salts presented satisfactory evolution. From them, only one had neurological symptoms. Death due to infectious complications related to severe motor disability occurred in three patients, representing only 10.7% of fatal evolution.

Foi avaliada a evolução neurológica, sob tratamento, de 76 casos de degeneração hepatolenticular. Dos 76 casos, 59 (77,6%) apresentariam melhora do quadro neurológico ou mantiveram-se assintomáticos, 8 (10,6%) permaneceram inalterados e 9 (11,8%) pioraram. Os principais fatores relacionados a resultados insatisfatórios foram: duração de tratamento insuficiente para permitir reversão de distúrbios neurológicos, uso irregular da medicação e predomínio de manifestações distônicas no quadro neurológico.

CONTENTS CONTEÚDO

Egberto R. Barbosa^I; Milberto Scaff^II; Horácio M. Canelas^II

^IMédico Assistente - Grupo de Estudo de Distúrbios do Movimento da Divisão de Clínica Neurológica do Hospital das Clínicas (HC) da Faculdade de Medicina da Universidade de São Paulo (FMUSP)

^IIProfessor Titular - Grupo de Estudo de Distúrbios do Movimento da Divisão de Clínica Neurológica do Hospital das Clínicas (HC) da Faculdade de Medicina da Universidade de São Paulo (FMUSP)

RESUMO

Foi avaliada a evolução neurológica, sob tratamento, de 76 casos de degeneração hepatolenticular. Dos 76 casos, 59 (77,6%) apresentariam melhora do quadro neurológico ou mantiveram-se assintomáticos, 8 (10,6%) permaneceram inalterados e 9 (11,8%) pioraram. Os principais fatores relacionados a resultados insatisfatórios foram: duração de tratamento insuficiente para permitir reversão de distúrbios neurológicos, uso irregular da medicação e predomínio de manifestações distônicas no quadro neurológico.

SUMMARY

A series of 76 patients with hepatolenticular degeneration (HLD) followed up at the Hospital of the University of São Paulo Medical School between 1963 and 1988 have been studied focusing the evolution under treatment of neurological features. The assessment of neurological symptoms included 12. specific items, and it was made by a scoring system ranging from 0 to 3 (absent, mild, moderate and severe). Global score varied between 0 to 36. A functional disability scale (0, normal; 1, mild; 2, moderate; 3, severe) was also adopted. All patients received D-penicillamine but three of them developed serious renal toxic side-effects, and this drug was replaced by zinc (sulphate or acetate). Fifty-nine patients (77.6%) improved, 8 (10.6%) remained unchanged, and 9 (11.8%) got worse. The main features related to bad results were poor compliance, predominance of dystonic symptoms, and short time treatment (death due hepatic complications). Eight patients (10.5%) developed transient worsening of neurological symptoms during the first weeks of treatment. Three patients who have D-penicillamine replaced by zinc salts presented satisfactory evolution. From them, only one had neurological symptoms. Death due to infectious complications related to severe motor disability occurred in three patients, representing only 10.7% of fatal evolution.

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Dr. Egberto Reis Barbosa - Clínica Neurológica, Hospital das Clínicas, FMUSP - Caixa Postal 3461 - 01060 São Paulo SP - Brasil.

1. Barbosa ER. Degeneração hepatolenticular: aspectos clínicos e laboratoriais de 89 casos. Dissertação de Mestrado, Faculdade de Medicina da Universidade de São Paulo. São Paulo, 1983.
2. Barbosa ER. Degeneração hepatolenticular: aspectos terapêuticos em 76 casos. Tese de Doutorado, Faculdade de Medicina da Universidade de São Paulo. São Paulo, 1990.
3. Barbosa ER, Comerlatti LR, Scaff, Canelas HM. Degeneração hepatolenticular: aspectos diagnósticos em 95 casos. Arq Neuro-Psiquiat (São Paulo) 1985, 43:284-242.
4. Barros NG, Barbosa ER, Canelas HM. The CT-scan for evaluation of Wilson's disease. VI European Congress of Radiology, Lisboa, June, 1987 (abstr).
5. Berry WR, Aronson AE; Darley FL, Goldstein NP. Effects of penicillamine therapy and low-copper diet on dysarthria in Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc 1974, 48:405-408.
6. Brewer GJ, Terry CA, Aisen AM, Gretchen MH. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 1987, 44:490-493.
7. Canelas HM. Degeneração hepatolenticular: a propósito de 102 casos. Arq Neuro-Psiquiat (São Paulo) 1987, 45:197-212.
8. Canelas HM, Scaff M, Barbosa ER, Marchiori PE. Degeneração hepatolenticular: considerações a propósito de 81 casos. In Barraquer-Bordas L (ed): Centenário de la Neurologia en Espana. Barcelona: Servicio de Neurologia dei Hospital de la Santa Creu i Sant Pau, 1983, p 839-862.
9. Denny-Brown D. Hepatolenticular degeneration (Wilson's disease): two different components. N Engl J Med 1964, 270:1149-1156.
10. Emery P, Mackay IR. Compliance and Wilson's disease Lancet 1986, 1:1388.
11. Hoogenraad T, Rothhuizen J. Compliance in Wilson's disease and in copper toxicosis of bedlington terriers. Lancet 1986, 2:170.
12. Patten BM. Wilson's disease. In Jankovic J, Tolosa E (eds): Parkinson's Disease and Movement Disorders. Baltimore: Urban and Schwarzenberg 1988, p 179-190.
13. Pfeiffer CC, Camo B. Wilson's disease (Letter). Arch Neurol 1988, 45:247.
14. Scheinberg IH, Sternlieb I. Wilson's disease. Philadelphia: Saunders, 1984.
15. Shoulson I, Goldblatt D, Plassche W, Wilson G. Some therapeutic observations in Wilson's disease. In Fahn S, Calne DB, Shoulson I (eds): Advances in Neurology, Vol 37. New York: Raven Press, 1983, p 239-246.
16. Staratosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, Brewer GJ. Clinical assesment of 31 patients with Wilson's disease: correlations with structural changes on magnetic resonance imaging. Arch Neurol 1987, 44:365-370.
17. Sternlieb ,1 Giblin Dr, Scheinberg IH. Wilson's disease. In Marsden CD, Fahn S (eds): Movement Disorders 2. London: Butterworths, 1987, p 228-302.
18. Walshe JM, Dixon AD. Dangers of non-compliance in Wilson's disease. Lancet 1986, 1:845.
19. Williams FIB, Walshe JM. Wilson's disease: an analysis of the cranial computerized tomographic appearances found in 60 patients and the changes in response to treatment with chelating agents. Brain 1981, 104:735-752.

Degeneração hepatolenticular avaliação da evolução neurológica em 76 casos tratados

Hepatolenticular degeneration: analysis of neurological manifestations under treatment in 76 patients

Publication Dates

Publication in this collection
22 Feb 2011
Date of issue
Dec 1991

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

[1] 1. Barbosa ER. Degeneração hepatolenticular: aspectos clínicos e laboratoriais de 89 casos. Dissertação de Mestrado, Faculdade de Medicina da Universidade de São Paulo. São Paulo, 1983.

[2] 2. Barbosa ER. Degeneração hepatolenticular: aspectos terapêuticos em 76 casos. Tese de Doutorado, Faculdade de Medicina da Universidade de São Paulo. São Paulo, 1990.

[3] 3. Barbosa ER, Comerlatti LR, Scaff, Canelas HM. Degeneração hepatolenticular: aspectos diagnósticos em 95 casos. Arq Neuro-Psiquiat (São Paulo) 1985, 43:284-242.

[4] 4. Barros NG, Barbosa ER, Canelas HM. The CT-scan for evaluation of Wilson's disease. VI European Congress of Radiology, Lisboa, June, 1987 (abstr).

[5] 5. Berry WR, Aronson AE; Darley FL, Goldstein NP. Effects of penicillamine therapy and low-copper diet on dysarthria in Wilson's disease (hepatolenticular degeneration). Mayo Clin Proc 1974, 48:405-408.

[6] 6. Brewer GJ, Terry CA, Aisen AM, Gretchen MH. Worsening of neurologic syndrome in patients with Wilson's disease with initial penicillamine therapy. Arch Neurol 1987, 44:490-493.

[7] 7. Canelas HM. Degeneração hepatolenticular: a propósito de 102 casos. Arq Neuro-Psiquiat (São Paulo) 1987, 45:197-212.

[8] 8. Canelas HM, Scaff M, Barbosa ER, Marchiori PE. Degeneração hepatolenticular: considerações a propósito de 81 casos. In Barraquer-Bordas L (ed): Centenário de la Neurologia en Espana. Barcelona: Servicio de Neurologia dei Hospital de la Santa Creu i Sant Pau, 1983, p 839-862.

[9] 9. Denny-Brown D. Hepatolenticular degeneration (Wilson's disease): two different components. N Engl J Med 1964, 270:1149-1156.

[10] 10. Emery P, Mackay IR. Compliance and Wilson's disease Lancet 1986, 1:1388.

[11] 11. Hoogenraad T, Rothhuizen J. Compliance in Wilson's disease and in copper toxicosis of bedlington terriers. Lancet 1986, 2:170.

[12] 12. Patten BM. Wilson's disease. In Jankovic J, Tolosa E (eds): Parkinson's Disease and Movement Disorders. Baltimore: Urban and Schwarzenberg 1988, p 179-190.

[13] 13. Pfeiffer CC, Camo B. Wilson's disease (Letter). Arch Neurol 1988, 45:247.

[14] 14. Scheinberg IH, Sternlieb I. Wilson's disease. Philadelphia: Saunders, 1984.

[15] 15. Shoulson I, Goldblatt D, Plassche W, Wilson G. Some therapeutic observations in Wilson's disease. In Fahn S, Calne DB, Shoulson I (eds): Advances in Neurology, Vol 37. New York: Raven Press, 1983, p 239-246.

[16] 16. Staratosta-Rubinstein S, Young AB, Kluin K, Hill G, Aisen AM, Gabrielsen T, Brewer GJ. Clinical assesment of 31 patients with Wilson's disease: correlations with structural changes on magnetic resonance imaging. Arch Neurol 1987, 44:365-370.

[17] 17. Sternlieb ,1 Giblin Dr, Scheinberg IH. Wilson's disease. In Marsden CD, Fahn S (eds): Movement Disorders 2. London: Butterworths, 1987, p 228-302.

[18] 18. Walshe JM, Dixon AD. Dangers of non-compliance in Wilson's disease. Lancet 1986, 1:845.

[19] 19. Williams FIB, Walshe JM. Wilson's disease: an analysis of the cranial computerized tomographic appearances found in 60 patients and the changes in response to treatment with chelating agents. Brain 1981, 104:735-752.