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

Abstract

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 followup 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. Distonia progressiva da infância com flutuação sintomatológica diurna sensível a levodopa: relato de casoRESUMO -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 ...

A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS‐ES Task Force

“…A class IV trial performed on a small sample of dopa‐responsive dystonia patients showed no differences in the short‐ and long‐duration responses [88]. Many uncontrolled studies reported improvement of Parkinsonism and dystonia with variable doses of levodopa, from 100 mg daily [89] to 750 mg daily [90]. In a case series of 20 patients, clinical benefit was observed at a mean dose of 343.8 mg daily for patients with dyskinesias, and 189.1 mg daily for patients without dyskinesias; in addition, there was an inverse correlation between the daily dose of levodopa and duration of treatment [91].…”

Dopa-Responsive Dystonia with Diurnal Fluctuation: A Case Report of an 18 Year Old Nigerian

“…De la Fuente-Fernandez reported adequate control with a daily dose of 250 mg of levodopa [26] while Wang et al suggested an optimal dose of 10 mg/kg [27]. Others have reported control with 20 mg/kg (28) or 100 mg/d (29). Early treatment can prevent complications such as contracture formation and fixed equinovarus foot deformity.…”

DOPA-sensitive dystonia-plus syndrome

“…Later studies found that the typical diurnal fluctuation is not constant (Deonna 1986, Rondot et al 1992, Segawa et al 2003). Treatment with low-dose levodopa usually brings about a dramatic improvement, which is often maintained over periods ranging from 1 to 10 years with no adverse effects (Segawa et al 1990, Nygaard et al 1992, Gherpelli et al 1995. Recurrence of symptoms on withdrawal was observed in all patients in whom low-dose levadopa was administered.…”