Doença de Lafora: Uma possibilidade diagnóstica das demências juvenis

Dias-Tosta, Elza; Vieira, Lea Fátima; Alves, Adriana; Miziara, Helcio L.

doi:10.1590/S0004-282X1995000300015

Resumos

Cinco casos de doença de Lafora são relatados, dando-se ênfase à sequência de eventos clínicos que permitiram a suspeita do diagnóstico e o posterior método de comprovação através de exames histopatológicos da pele e fígado. Todos os pacientes iniciaram o quadro clínico com diminuição do rendimento escolar ou distúrbio de memória, a que se seguiram crises convulsivas e mioclonias. Ressalta-se o caráter familiar da doença, a idade de início entre os 12 e 16 anos e a impossibilidade de se atingir um controle adequado das crises, mesmo se utilizando múltiplos esquemas terapêuticos. São discutidos os diagnósticos diferenciais do ponto de vista clínico e laboratorial mostrando que casos que se apresentem com esta evolução devem ser submetidos inicialmente a biópsia de pele e, se não se lograr a caracterização dos corpos de Lafora nas glândulas sudoríparas, proceder-se-á ao exame do fígado, que foi positivo em quatro das cinco biópsias.

demência juvenil; epilepsia mioclônica; corpos de Lafora; biópsia de pele; biópsia de fígado

Five patients aged 12 to 16 years old were admitted between 1987 and 1994 at the neurological unit because of uncontrolled epilepsy. They had had a normal development until the adolescence, when a history of poor school performance and memory difficulty started. It is emphasized the clinical sequence of dementia followed by tonic-clonic seizures and myoclonus, the positive family history and the difficult therapeutic management, in spite of multiple anticonvulsant combinations, including sodium valproate and clonazepam. The clinical and laboratory differential diagnosis were discussed to show that similar cases should be submitted to skin biopsy looking for Lafora bodies in apocrine and eccrine glands. However, the liver is considered as the most reliable site for the biopsy, which in our study showed positivity in four out of the five cases.

juvenile dementia; seizures; myoclonus; Lafora bodies; skin biopsy; liver biopsy

Doença de Lafora. Uma possibilidade diagnóstica das demências juvenis

Lafora's disease: a possible diagnosis of juvenile dementia

Elza Dias-Tosta^I; Lea Fátima Vieira^I; Adriana Alves^I; Helcio L. Miziara^II

Hospital de Base do Distrito Federal: ^IUnidade de Neurologia

Hospital de Base do Distrito Federal: ^IIUnidade de Anatomia Patológica e Citologia

RESUMO

Cinco casos de doença de Lafora são relatados, dando-se ênfase à sequência de eventos clínicos que permitiram a suspeita do diagnóstico e o posterior método de comprovação através de exames histopatológicos da pele e fígado. Todos os pacientes iniciaram o quadro clínico com diminuição do rendimento escolar ou distúrbio de memória, a que se seguiram crises convulsivas e mioclonias. Ressalta-se o caráter familiar da doença, a idade de início entre os 12 e 16 anos e a impossibilidade de se atingir um controle adequado das crises, mesmo se utilizando múltiplos esquemas terapêuticos. São discutidos os diagnósticos diferenciais do ponto de vista clínico e laboratorial mostrando que casos que se apresentem com esta evolução devem ser submetidos inicialmente a biópsia de pele e, se não se lograr a caracterização dos corpos de Lafora nas glândulas sudoríparas, proceder-se-á ao exame do fígado, que foi positivo em quatro das cinco biópsias.

Palavras-chave: demência juvenil, epilepsia mioclônica, corpos de Lafora, biópsia de pele, biópsia de fígado.

SUMMARY

Five patients aged 12 to 16 years old were admitted between 1987 and 1994 at the neurological unit because of uncontrolled epilepsy. They had had a normal development until the adolescence, when a history of poor school performance and memory difficulty started. It is emphasized the clinical sequence of dementia followed by tonic-clonic seizures and myoclonus, the positive family history and the difficult therapeutic management, in spite of multiple anticonvulsant combinations, including sodium valproate and clonazepam. The clinical and laboratory differential diagnosis were discussed to show that similar cases should be submitted to skin biopsy looking for Lafora bodies in apocrine and eccrine glands. However, the liver is considered as the most reliable site for the biopsy, which in our study showed positivity in four out of the five cases.

Key words:juvenile dementia, seizures, myoclonus, Lafora bodies, skin biopsy, liver biopsy.

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Agradecimentos - Os autores agradecem aos Drs. Riccardo Pratesi e Carlos Eduardo Tosta pela revisão crítica deste trabalho.

Aceite: 16-janeiro-1995.

Dra. Elza Dias-Tosta - SHIS QL 16 Conj.5 Casa 17, Lago Sul - 71640-255 Brasília DF - Brasil.

1. Adams RD, Victor M. Principles of neurology Ed 4. New York: McGraw-Hill, 1989 (The inherited metabolic diseases of the nervous system).
2. Berkovic SF, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis. N Eng J Med, 1986, 315: 296-305.
3. Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia 1993, 34 (Suppl 3): S19-S30.
4. Cafferty MS, Lovelace RE, Hays AP et al. Polyglucosan body disease. Muscle Nerve 1991, 14:102-107.
5. Coker SB. The diagnosis of childhood neurodegenerative disorders presenting as dementia in adults. Neurology 1991, 41:794-798.
6. Cukiert A, Vilela MM, Scapolan HB, Lefrève BHW, Marques-Assis L. Mental deterioration in Lafora's disease. Arq Neurpsiquiatr 1990, 48:236-240.
7. Dias-Tosta E. Citopatias mitocondriais: aspectos clínicos. Rev Bras Neurol 1994, 30:3-8.
8. Dreifuss FE. Pediatric epileptology: classification and management of seizures in the child. Boston: John Wright, 1983, p 121-127.
9. Drury I, Blaivas M, Abou-Khalil BW, Beydoun A. Biopsy results in a kindred with Lafora disease. Arch Neurol 1993, 50:102-105.
10. Koskiniemi M, Hyyppa M, Sainio K, Salmi T, Sama S, Uotila. Transient effect of L-tryptophan in progressive myoclonus epilepsy without Lafora bodies: clinical and electrophysiological study. Epilepsia 1980, 21:351-357.
11. Henry TR, Leppik IE, Gumnit RJ, Jacobs M. Progressive myoclonus epilepsy treated with zonisamide. Neurology 1988, 38:928-931.
12. Loiseau H, Marchai C, Vital A, Vital C, Rougier A, Loiseau P. Occurrence of polyglucosan bodies in temporal lobe epilepsy. J Neurol Neurosurg Psychiatry 1992, 55:1092-1093.
13. Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, Abramsky O, Steiner I. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 1991, 30:655-662.
14. Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 1990, 28:113.
15. Paulus W, Ried S, Stodieck SRG, Schmidt D. Abolition of photoparoxysmal response in progressive myoclonus epilepsy. Eur Neurol 1991, 31:388-390.
16 Robitaille Y, Carpenter S, Karpati G, DiMauro S. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal aging. Brain 1980, 103:315-336.
17. Roger J. Les epilepsies-myoclonies progressives du grand enfant et de l'adolescent. In Roger J, Dravet C, Bureau M, Dreifuss FE, Wolf P. (ed) Les syndromes epileptiques de l'enfant et de l'adolescent. London: John Libbey Eurotextl984, p 313.
18. Rosemberg S, Campos C. Estudo ultrastrutural de biópsias de conjuntiva em doenças metabólicas do sistema nervoso. Arq Neuropsiquiatr 1987, 45:7-15.
19. Rubio G, Guijo CG, Mallada JJ, Cabello A, Garcia Merino A. Diagnosis by axila skin biopsy in an early case of Lafora's disease. J Neurol Neurosurg Psychiatry 1992, 55:1084-1085.
20. Yokota T, Ishihara T, Yoshida H, Takahashi M, Uchino F, Hamanaka S. Monoclonal antibody against polyglucosan isolated from the myocardium of a patient with Lafora's disease. J Neuropathol Exper Neurol 1988, 47:572-577.
21. Weiss J, Schroder JM. Adult polyglucosan body myopathy with subclinical neuropathy: case report and review of diseases associated with polyglucosan body accumulation. Clin Neuropathol 1988, 7:271-279.

Datas de Publicação

Publicação nesta coleção
09 Dez 2010
Data do Fascículo
Set 1995

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

[1] 1. Adams RD, Victor M. Principles of neurology Ed 4. New York: McGraw-Hill, 1989 (The inherited metabolic diseases of the nervous system).

[2] 2. Berkovic SF, Andermann F, Carpenter S, Wolfe LS. Progressive myoclonus epilepsies: specific causes and diagnosis. N Eng J Med, 1986, 315: 296-305.

[3] 3. Berkovic SF, Cochius J, Andermann E, Andermann F. Progressive myoclonus epilepsies: clinical and genetic aspects. Epilepsia 1993, 34 (Suppl 3): S19-S30.

[4] 4. Cafferty MS, Lovelace RE, Hays AP et al. Polyglucosan body disease. Muscle Nerve 1991, 14:102-107.

[5] 5. Coker SB. The diagnosis of childhood neurodegenerative disorders presenting as dementia in adults. Neurology 1991, 41:794-798.

[6] 6. Cukiert A, Vilela MM, Scapolan HB, Lefrève BHW, Marques-Assis L. Mental deterioration in Lafora's disease. Arq Neurpsiquiatr 1990, 48:236-240.

[7] 7. Dias-Tosta E. Citopatias mitocondriais: aspectos clínicos. Rev Bras Neurol 1994, 30:3-8.

[8] 8. Dreifuss FE. Pediatric epileptology: classification and management of seizures in the child. Boston: John Wright, 1983, p 121-127.

[9] 9. Drury I, Blaivas M, Abou-Khalil BW, Beydoun A. Biopsy results in a kindred with Lafora disease. Arch Neurol 1993, 50:102-105.

[10] 10. Koskiniemi M, Hyyppa M, Sainio K, Salmi T, Sama S, Uotila. Transient effect of L-tryptophan in progressive myoclonus epilepsy without Lafora bodies: clinical and electrophysiological study. Epilepsia 1980, 21:351-357.

[11] 11. Henry TR, Leppik IE, Gumnit RJ, Jacobs M. Progressive myoclonus epilepsy treated with zonisamide. Neurology 1988, 38:928-931.

[12] 12. Loiseau H, Marchai C, Vital A, Vital C, Rougier A, Loiseau P. Occurrence of polyglucosan bodies in temporal lobe epilepsy. J Neurol Neurosurg Psychiatry 1992, 55:1092-1093.

[13] 13. Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, Abramsky O, Steiner I. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients. Ann Neurol 1991, 30:655-662.

[14] 14. Marseille Consensus Group. Classification of progressive myoclonus epilepsies and related disorders. Ann Neurol 1990, 28:113.

[15] 15. Paulus W, Ried S, Stodieck SRG, Schmidt D. Abolition of photoparoxysmal response in progressive myoclonus epilepsy. Eur Neurol 1991, 31:388-390.

[16] 16 Robitaille Y, Carpenter S, Karpati G, DiMauro S. A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal aging. Brain 1980, 103:315-336.

[17] 17. Roger J. Les epilepsies-myoclonies progressives du grand enfant et de l'adolescent. In Roger J, Dravet C, Bureau M, Dreifuss FE, Wolf P. (ed) Les syndromes epileptiques de l'enfant et de l'adolescent. London: John Libbey Eurotextl984, p 313.

[18] 18. Rosemberg S, Campos C. Estudo ultrastrutural de biópsias de conjuntiva em doenças metabólicas do sistema nervoso. Arq Neuropsiquiatr 1987, 45:7-15.

[19] 19. Rubio G, Guijo CG, Mallada JJ, Cabello A, Garcia Merino A. Diagnosis by axila skin biopsy in an early case of Lafora's disease. J Neurol Neurosurg Psychiatry 1992, 55:1084-1085.

[20] 20. Yokota T, Ishihara T, Yoshida H, Takahashi M, Uchino F, Hamanaka S. Monoclonal antibody against polyglucosan isolated from the myocardium of a patient with Lafora's disease. J Neuropathol Exper Neurol 1988, 47:572-577.

[21] 21. Weiss J, Schroder JM. Adult polyglucosan body myopathy with subclinical neuropathy: case report and review of diseases associated with polyglucosan body accumulation. Clin Neuropathol 1988, 7:271-279.