Dopa-sensitive progressive dystonia of childhood with diurnal fluctuations of symptoms: a case report

Gherpelli, José Luiz Dias; Nagae, Lídia Mayumi; Diament, Aron

doi:10.1590/S0004-282X1995000200022

Abstracts

Progressive dystonia with diurnal fluctuations sensitive to levodopa, also known as Segawa's disease, is a rare form of autosomal dominant extrapyramidal disease in the pediatric age group. The dystonic and Parkinson-like symptoms are the main clinical features of the disease and, characteristically but not in all cases, show a diurnal variation. They are absent or present to a lesser extent in the morning, worsening during the day. Treatment with small doses of levodopa results in remission or marked improvement of the symptomatology. We present the case of a 11 years old female patient that developed a dystonic posture in her feet that led her to a tip-toe walking pattern, since the age of 2. Diurnal fluctuations of the symptomatology were noticed by her mother. At 7 years of age she developed a left deviation of the head and an abnormal flexor posture of the left arm. In the next years the symptoms progressed and the fluctuations became less evident. At the age of 10, they were present soon after she woke up in the morning. The neurological examination disclosed a dystonic posturing of the head and left arm, a generalized rigidity of the extremities and a palpebral tremor. Laboratory examinations, including copper and ceruloplasmin, and neuro-imaging studies were negative. She was started on levodopa 150 mg/day with prompt disappearance of the symptomatology. After one-year follow-up she is symptom-free with only 100 mg/day of levodopa. No adverse effect was observed so far.

dystonia; Segawa's disease; fluctuating dystonia; levodopa

A distonia progressiva da infância responsiva à levodopa, também conhecida como doença de Segawa, é uma forma rara de doença extrapiramidal de herança autossômica dominante na faixa etária pediátrica. As principais características clínicas da doença são as manifestações distônicas e parkinsonianas que, na maioria dos casos, apresentam variação diurna, sendo ausentes ou de pequena magnitude pela manhã e piorando com o transcorrer do dia. O tratamento com pequenas doses de levodopa resulta na melhora completa ou significativa da sintomatologia. Relata-se o caso de uma criança de 11 anos de idade, do sexo feminino, que a partir dos 2 anos de idade apresentava postura distônica dos pés levando a assumir posição equina à marcha. A flutuação da postura durante o decorrer do dia foi observada pela mãe desde o início.Aos 7 anos, ela desenvolveu desvio lateral da cabeça para a esquerda associado a postura flexora do membro superior ipsolateral. Houve piora progressiva dos sintomas até que aos 10 anos de idade a sintomatologia era observada ao despertar. O exame neurológico permitiu detectar postura distônica da cabeça e do membro superior esquerdo, rigidez generalizada nas extremidades e leve tremor palpebral. Os exames laboratoriais, incluindo dosagens de cobre e ceruloplasmina, foram normais ou negativos, bem como os exames de neuro-imagem. O tratamento com levodopa foi iniciado com dosagem de 150 mg/dia, com melhora completa e imediata da sintomatologia. Após 1 ano de seguimento, ela está assintomática, tomando levodopa na dose de 100 mg/dia. Nenhum efeito colateral devido à terapêutica foi observado nesse período.

distonia; doença de Segawa; distonia flutuante; levopa

Dopa-sensitive progressive dystonia of childhood with diurnal fluctuations of symptoms: a case report

Distonia progressiva da infância com flutuação sintomatológica diurna sensível a levodopa: relato de caso

José Luiz Dias Gherpelli^I; Lídia Mayumi Nagae^II; Aron Diament^III

^IMédico Assistente-Doutor

^IIMédica Residente

^IIIChefe do Serviço

SUMMARY

Progressive dystonia with diurnal fluctuations sensitive to levodopa, also known as Segawa's disease, is a rare form of autosomal dominant extrapyramidal disease in the pediatric age group. The dystonic and Parkinson-like symptoms are the main clinical features of the disease and, characteristically but not in all cases, show a diurnal variation. They are absent or present to a lesser extent in the morning, worsening during the day. Treatment with small doses of levodopa results in remission or marked improvement of the symptomatology. We present the case of a 11 years old female patient that developed a dystonic posture in her feet that led her to a tip-toe walking pattern, since the age of 2. Diurnal fluctuations of the symptomatology were noticed by her mother. At 7 years of age she developed a left deviation of the head and an abnormal flexor posture of the left arm. In the next years the symptoms progressed and the fluctuations became less evident. At the age of 10, they were present soon after she woke up in the morning. The neurological examination disclosed a dystonic posturing of the head and left arm, a generalized rigidity of the extremities and a palpebral tremor. Laboratory examinations, including copper and ceruloplasmin, and neuro-imaging studies were negative. She was started on levodopa 150 mg/day with prompt disappearance of the symptomatology. After one-year follow-up she is symptom-free with only 100 mg/day of levodopa. No adverse effect was observed so far.

Key words:dystonia, Segawa's disease, fluctuating dystonia, levodopa.

RESUMO

A distonia progressiva da infância responsiva à levodopa, também conhecida como doença de Segawa, é uma forma rara de doença extrapiramidal de herança autossômica dominante na faixa etária pediátrica. As principais características clínicas da doença são as manifestações distônicas e parkinsonianas que, na maioria dos casos, apresentam variação diurna, sendo ausentes ou de pequena magnitude pela manhã e piorando com o transcorrer do dia. O tratamento com pequenas doses de levodopa resulta na melhora completa ou significativa da sintomatologia. Relata-se o caso de uma criança de 11 anos de idade, do sexo feminino, que a partir dos 2 anos de idade apresentava postura distônica dos pés levando a assumir posição equina à marcha. A flutuação da postura durante o decorrer do dia foi observada pela mãe desde o início.Aos 7 anos, ela desenvolveu desvio lateral da cabeça para a esquerda associado a postura flexora do membro superior ipsolateral. Houve piora progressiva dos sintomas até que aos 10 anos de idade a sintomatologia era observada ao despertar. O exame neurológico permitiu detectar postura distônica da cabeça e do membro superior esquerdo, rigidez generalizada nas extremidades e leve tremor palpebral. Os exames laboratoriais, incluindo dosagens de cobre e ceruloplasmina, foram normais ou negativos, bem como os exames de neuro-imagem. O tratamento com levodopa foi iniciado com dosagem de 150 mg/dia, com melhora completa e imediata da sintomatologia. Após 1 ano de seguimento, ela está assintomática, tomando levodopa na dose de 100 mg/dia. Nenhum efeito colateral devido à terapêutica foi observado nesse período.

Palavras-chave: distonia, doença de Segawa, distonia flutuante, levopa.

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Full text available only in PDF format.

Aceite: 24-novembro-1994.

Serviço de Neurologia Infantil da Clínica Neurológica do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP): Dr. José Luiz Dias Gherpelli - Serviço de Neurologia Infantil da Clínica Neurológica do Hospital das Clínicas FMUSP - Caixa Postal 8091 - 01065-970 São Paulo SP - Brasil.

1. Araújo A Q-C, Miranda SBM. Doença de Segawa: distonia progressiva sensível ŕ L-DOPA-relato de caso. Arq Neuropsiquiatr 1993, 51: 532-536.
2. Costeff H, Gadoth N, Mendelson L, Harel S, Lavie P. Fluctuating dystonia responsive to levodopa. Arch Dis Child 1987, 62: 801-804.
3. Deonna T. Dopa-sensitive progressive dystonia of childhood with fluctuations of symptoms: Segawa syndrome and possible variants. Neuropediatrics 1986, 17: 81-85.
4. Fink JK, Ravin PD, Killing-Kantz M, Argoff CE, Hallet M. Clinical and genetic analysis of progressive dystonia with diurnal variation. Arch Neurol 1991, 48: 908-911.
5. Golbe LI. Young-onset Parkinson's disease. Neurology 1991, 41: 168-173.
6. Gordon N. Fluctuating dystonia and allied syndromes. Neuropediatrics 1982, 13: 152-154.
7. Görke W, Bartholomé K. Biochemical and neurophysiological investigations in two forms of Segawa's disease. Neuropediatrics 1990, 21: 3-8.
8. Kaiser R, Ziegler G. Hereditary progressive dystonia with diurnal fluctuation (Segawa syndrome): an unusual case. Neuropediatrics 1992, 23: 268-271.
9. Müller K, Hömberg V, Lenard HG. Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome). Neuropediatrics 1989, 20: 185-191.
10. Nygaard TG, Duvoisin RC. Hereditary dystonia parkinsonism syndrome of juvenile onset. Neurology 1986, 36: 1424-1428.
11. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1988, 50: 377-384.
12. Nygaard TG, Marsden D, Kahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991, 41: 174-181.
13. Ouvrier RA. Progressive dystonia with marked diurnal fluctuation. Ann Neurol 1978, 4: 412-417.
14. Puel O, Rontam D, Hehunstre JP, Güillard JM. Dystonie musculaire fluctuante: syndrome de Segawa-intéręt du traitment par la L-Dopa. Arch Fr Pediatr 1990, 47: 511-512.
15. Segawa M, Hosaka A, Miyagawa K, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976, 14: 215-233.
16. Segawa M, Nomura Y, Kase M. Hereditary progressive dystonia with marked diurnal fluctuation: clinicopathophysiological identification in reference to juvenile Parkinson's disease. Adv Neurol 1986,45: 227-234.
17. Segawa M, Nomura Y, Tanaka S, Hakamada S, Nagata E, Soda M, Kase M. Hereditary progressive dystonia with marked diurnal fluctuation: consideration on its pathophysiology based on the characteristics of clinical and polysomnographies findings. Adv Neurol 1988, 50: 367-376.
18. Yokochi M, Narahayashi H, Tizuka R, Nagatsu T. Juvenile parkinsonism: some clinical, pharmacological and neuropathological aspects. Adv Neurol 1984, 40: 407-413.

Publication Dates

Publication in this collection
20 Jan 2011
Date of issue
June 1995

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

[1] 1. Araújo A Q-C, Miranda SBM. Doença de Segawa: distonia progressiva sensível ŕ L-DOPA-relato de caso. Arq Neuropsiquiatr 1993, 51: 532-536.

[2] 2. Costeff H, Gadoth N, Mendelson L, Harel S, Lavie P. Fluctuating dystonia responsive to levodopa. Arch Dis Child 1987, 62: 801-804.

[3] 3. Deonna T. Dopa-sensitive progressive dystonia of childhood with fluctuations of symptoms: Segawa syndrome and possible variants. Neuropediatrics 1986, 17: 81-85.

[4] 4. Fink JK, Ravin PD, Killing-Kantz M, Argoff CE, Hallet M. Clinical and genetic analysis of progressive dystonia with diurnal variation. Arch Neurol 1991, 48: 908-911.

[5] 5. Golbe LI. Young-onset Parkinson's disease. Neurology 1991, 41: 168-173.

[6] 6. Gordon N. Fluctuating dystonia and allied syndromes. Neuropediatrics 1982, 13: 152-154.

[7] 7. Görke W, Bartholomé K. Biochemical and neurophysiological investigations in two forms of Segawa's disease. Neuropediatrics 1990, 21: 3-8.

[8] 8. Kaiser R, Ziegler G. Hereditary progressive dystonia with diurnal fluctuation (Segawa syndrome): an unusual case. Neuropediatrics 1992, 23: 268-271.

[9] 9. Müller K, Hömberg V, Lenard HG. Motor control in childhood onset dopa-responsive dystonia (Segawa syndrome). Neuropediatrics 1989, 20: 185-191.

[10] 10. Nygaard TG, Duvoisin RC. Hereditary dystonia parkinsonism syndrome of juvenile onset. Neurology 1986, 36: 1424-1428.

[11] 11. Nygaard TG, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1988, 50: 377-384.

[12] 12. Nygaard TG, Marsden D, Kahn S. Dopa-responsive dystonia: long-term treatment response and prognosis. Neurology 1991, 41: 174-181.

[13] 13. Ouvrier RA. Progressive dystonia with marked diurnal fluctuation. Ann Neurol 1978, 4: 412-417.

[14] 14. Puel O, Rontam D, Hehunstre JP, Güillard JM. Dystonie musculaire fluctuante: syndrome de Segawa-intéręt du traitment par la L-Dopa. Arch Fr Pediatr 1990, 47: 511-512.

[15] 15. Segawa M, Hosaka A, Miyagawa K, Nomura Y, Imai H. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976, 14: 215-233.

[16] 16. Segawa M, Nomura Y, Kase M. Hereditary progressive dystonia with marked diurnal fluctuation: clinicopathophysiological identification in reference to juvenile Parkinson's disease. Adv Neurol 1986,45: 227-234.

[17] 17. Segawa M, Nomura Y, Tanaka S, Hakamada S, Nagata E, Soda M, Kase M. Hereditary progressive dystonia with marked diurnal fluctuation: consideration on its pathophysiology based on the characteristics of clinical and polysomnographies findings. Adv Neurol 1988, 50: 367-376.

[18] 18. Yokochi M, Narahayashi H, Tizuka R, Nagatsu T. Juvenile parkinsonism: some clinical, pharmacological and neuropathological aspects. Adv Neurol 1984, 40: 407-413.