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

1995 ◽  
Vol 53 (2) ◽  
pp. 298-301 ◽  
Author(s):  
José Luiz Dias Gherpelli ◽  
Lídia Mayumi Nagae ◽  
Aron Diament

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.

2009 ◽  
Vol 78 (5) ◽  
pp. 317-319 ◽  
Author(s):  
Almut Zeeck ◽  
Stefanie Weber ◽  
Angelika Sandholz ◽  
Edda Wetzler-Burmeister ◽  
Michael Wirsching ◽  
...  

1999 ◽  
Vol 50 (10) ◽  
pp. 1326-1330 ◽  
Author(s):  
Theresa Wilberg ◽  
Øyvind Urnes ◽  
Svein Friis ◽  
Torill Irion ◽  
Geir Pedersen ◽  
...  

2011 ◽  
Vol 26 (S2) ◽  
pp. 1353-1353
Author(s):  
L. Bankovská Motlová ◽  
E. Dragomirecká ◽  
A. Blabolová ◽  
J. Ĉermák ◽  
D. Holub

IntroductionWe introduce clinically-based 6-week structured group day-treatment programme for out-patients with schizophrenia-spectrum disorders in the stabilization phase of the treatment. It consists of family psychoeducation, lifestyle improvement intervention, social skills training and art therapy.Objectives and aimsTo assess relapse frequency, psychopathology (PANSS) and quality of life (Schwartz Outcomes Scale-10, WHO-QOL BREF and Social Integration Survey) we designed one-year prospective follow-up field study.MethodsAfter informed consent procedure 144 patients entered the project. Psychopatology and Quality of life were assessed at the entry of the programme, at the end of the programme and at one-year follow-up (N = 86).ResultsPsychopathology decreased after programme significantly and PANSS scores remained low in one-year follow-up. Quality of life assessed by SOS-10 improved after programme significantly. Scores of WHOQOL-BREF raised significantly in Subjective health domain and Psychological health. In one-year follow-up Environment domain improved significantly. Social quality of life (SIS) improved in Behaviour to strangers, Communication, Activities of daily living and Empathy. Quality of life in patients was lower compared to common population, improved after the programme and this improvement was stable in one-year follow-up. One-year relapse rate in participants was 12%.ConclusionsWe conclude that participation at the group day-treatment programme early after discharge is beneficial as it improves quality of life, prevents social isolation and early non-compliance and ensures continuity of care.AcknowledgementThis project was supported by Ministry of Education and Youth, CR: CNS 2005–2009 1M0517; Ministry of Health, CR: IGA MZ CR, NS 1036-3 and VZCR MZ0PCP 2005.


1988 ◽  
Vol 102 (6) ◽  
pp. 546-548 ◽  
Author(s):  
Mufid H. Abdu ◽  
Joseph G. Feghali

Abstract Uvulopalotopharyngoplasty (UPPP) has been recently popularized for the treatment of snoring and sleep apnea syndrome (SAS). All reported cases so far have been adults and the use of this procedure in the pediatric age group has not as yet been reported. Obstructive sleep apnea in children has been classically treated previously either medically or by adeno-tonsillectomy. The case of a three year old child with obstructive sleep apnea secondary to a large uvula and a redundant soft palate is reported. The child was successfully treated by UPPP, and remained free of symptoms for a follow-up period of one year.


2003 ◽  
Vol 1 (2) ◽  
pp. 73-77
Author(s):  
I. Christova ◽  
R. Komitova

The rate of seroconversion before treatment and antibody kinetics after treatment were analyzed and possible interpretations of serologic findings was proposed. Serum samples from 219 patients with Erythema migrans were tested by ELISA for antibodies against B. burgdorferi. Twenty-eight (28 %) to 55 % of the patients showed isolated IgM antibody response, 3–5 % showed isolated IgG response, 6–16 % showed concomitant IgM and IgG responses, and 24–63 % tested seronegative depending on number of days passed after the onset of Lyme borreliosis. One year after treatment, 38 % of the patients still had IgG response and 10% had IgM antibodies against B. burgdorferi. Furthermore, 4 of 106 seronegative patients revealed IgM response three months after treatment despite lack of signs or symptoms of active Lyme borreliosis. We concluded that persistence of antibody response is not indicative of treatment failure, although regular clinical and laboratory examinations, including PCR, should follow successful treatment.


2007 ◽  
Vol 177 (4S) ◽  
pp. 614-614
Author(s):  
Thorsten Bach ◽  
Thomas R.W. Herrmann ◽  
Roman Ganzer ◽  
Andreas J. Gross

2006 ◽  
Vol 175 (4S) ◽  
pp. 110-110 ◽  
Author(s):  
Robert D. Moore ◽  
John Miklos ◽  
L. Dean Knoll ◽  
Mary Dupont ◽  
Mickey Karram ◽  
...  

2006 ◽  
Vol 175 (4S) ◽  
pp. 332-333
Author(s):  
Jacques Hubert ◽  
Maṅo Chammas ◽  
Benoit Feillu ◽  
Eric Mourey ◽  
Usha Seshadri-Kreaden

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