Síndrome de Sjögren-Larsson: estudo clínico e laboratorial de dois casos

Marques-Dias, Maria Joaquina; Lefèvre, Antonio Branco; Gonzalez, Claudete H.; Saldanha, Pedro Henrique

doi:10.1590/S0004-282X1983000400006

Resumos

São registrados dois casos, irmãos e um de cada sexo, com ictiose de aparecimento precoce, deficiência mental, diplegia espática e alterações nos fundos oculares. A associação destes sinais sem outros concomitantes levam ao diagnóstico do síndrome de Sjögren e Larsson.

Two cases of Sjögren-Larsson syndrome are reported. In analysing the clinical symptoms and laboratory data the authors established the diagnosis of this rare entity which has an autosomal recessive kind of inheritance.

Síndrome de Sjögren-Larsson: estudo clínico e laboratorial de dois casos

Syndrome of Sjögren-Larsson: clinical and laboratory study of two cases

Maria Joaquina Marques-Dias^I; Antonio Branco Lefèvre^†; Claudete H. Gonzalez^II; Pedro Henrique Saldanha^III

^INeuropediatra do Instituto da Criança do HC, FMUSP

^IIMédica assistente do Instituto da Criança do HC, FMUSP, pesquisadora do CNPq;

^IIIProfessor Adjunto do Depto. Biologia do Instituto de Ciências Biomédicas da USP; chefe do Laboratório de Genética Médica da FMUSP

RESUMO

São registrados dois casos, irmãos e um de cada sexo, com ictiose de aparecimento precoce, deficiência mental, diplegia espática e alterações nos fundos oculares. A associação destes sinais sem outros concomitantes levam ao diagnóstico do síndrome de Sjögren e Larsson.

SUMMARY

Two cases of Sjögren-Larsson syndrome are reported. In analysing the clinical symptoms and laboratory data the authors established the diagnosis of this rare entity which has an autosomal recessive kind of inheritance.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Trabalho apresentado ao 3º Congresso Pan-Americano de Neurologia.

Instituto da Criança - Hospital das Clínicas - Av. Dr. Enéas de Aguiar s/nº - 05403 São Paulo, SP - Brasil.

1. BOTERMAN, C.H. - Primary pigmentary degeneration. In VINKEN, P.J. & BRUYN, G.W. (eds.): Handbook of Clinical Neurology. 13.322, 1972. Elsevier, North Holland Biomedical Press, Amsterdam.
2. BROOKE WILLIAMS, R.D. & LING TANG, I. - Mental defect quadriplegia and icsthyosis. Am. J. Dis. Child. 100:147, 1960.
3. JAGELL, S.; GUSTAVSON, K.H. & HOLMGREN, C. - Sjõgren-Larsson syndrome in Sweden: a clinical, genetic and epidemiological study. Clin. Genetics 19:233, 1981.
4. LINK, J.K. & ROLDAS, E.C. - Mental deficiency, Spasticity and Congenital ichthyosis. J. Pediat. 52:712, 1958.
5. MEREU, T. & CAREDDU, P. - Ictiosi congenita, oligofrenia, diplegia spastica e degenerazione permaculare della retina (síndrome de Sjõgren-Larsson). Min. ped. 13:1611, 1961.
6. RICHARDS, B.W. - Sjõgren-Larsson syndrome. In VINKEN, P.J. & BRUYN, G.W. (eds.): Handbook of Clinical Neurology 13:468, 1972. Elsevier, North-Holland Biomedical Press, Amsterdam.
7. SJOGREN, T. & LARSSON, T. - Oligophrenia in combination with congenital ichthyosis and spastics disorder: a clinical and genetic study. Acta psychiat. scand. (suppl. 113) 32:1, 1957.
8. SYLVESTER, P.E. - Pathological findings in Sjõgren-Larsson syndrome. J. ment. Defic. Res. 13:267, 1967.
9. WALLIS, K. & KALUSHINER, A. - Oligophrenia in combination with congenital ichtyosis, spastic disorders and macular degeneration (Sjõgren-Larsson syndrome). Ann. paediat. 194:115, 1960.

Datas de Publicação

Publicação nesta coleção
14 Ago 2012
Data do Fascículo
Dez 1983

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

[1] 1. BOTERMAN, C.H. - Primary pigmentary degeneration. In VINKEN, P.J. & BRUYN, G.W. (eds.): Handbook of Clinical Neurology. 13.322, 1972. Elsevier, North Holland Biomedical Press, Amsterdam.

[2] 2. BROOKE WILLIAMS, R.D. & LING TANG, I. - Mental defect quadriplegia and icsthyosis. Am. J. Dis. Child. 100:147, 1960.

[3] 3. JAGELL, S.; GUSTAVSON, K.H. & HOLMGREN, C. - Sjõgren-Larsson syndrome in Sweden: a clinical, genetic and epidemiological study. Clin. Genetics 19:233, 1981.

[4] 4. LINK, J.K. & ROLDAS, E.C. - Mental deficiency, Spasticity and Congenital ichthyosis. J. Pediat. 52:712, 1958.

[5] 5. MEREU, T. & CAREDDU, P. - Ictiosi congenita, oligofrenia, diplegia spastica e degenerazione permaculare della retina (síndrome de Sjõgren-Larsson). Min. ped. 13:1611, 1961.

[6] 6. RICHARDS, B.W. - Sjõgren-Larsson syndrome. In VINKEN, P.J. & BRUYN, G.W. (eds.): Handbook of Clinical Neurology 13:468, 1972. Elsevier, North-Holland Biomedical Press, Amsterdam.

[7] 7. SJOGREN, T. & LARSSON, T. - Oligophrenia in combination with congenital ichthyosis and spastics disorder: a clinical and genetic study. Acta psychiat. scand. (suppl. 113) 32:1, 1957.

[8] 8. SYLVESTER, P.E. - Pathological findings in Sjõgren-Larsson syndrome. J. ment. Defic. Res. 13:267, 1967.

[9] 9. WALLIS, K. & KALUSHINER, A. - Oligophrenia in combination with congenital ichtyosis, spastic disorders and macular degeneration (Sjõgren-Larsson syndrome). Ann. paediat. 194:115, 1960.