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J Chacón

Publications and source records attributed to J Chacón.

34 records · Page 2Linked to original sources
PubMedDate not supplied

[Sotos syndrome associated with focal dystonia].

INTRODUCTION: Sotos syndrome is a form of infantile gigantism characterized by excessive body size from the time of birth, particular facies, acromegalic changes and signs of non-progressive cerebral involvement. The etiology is unknown. Diagnosis is based on somatometric data and the particular phenotype traits. Biochemical and endocrine studies are normal. Torticollis is a focal dystonia and therefore more common in adults. CLINICAL CASE: A 20 year old woman with macrosomic features since birth presented with: weight 104 kg, height 182 cm; prognathism, hypertelorism, a broad over hanging forehead with a high hair line; large ears, hands and feet; torticollis towards the right with elevation and anteroversion of the right shoulder which caused symptomatic scoliosis. She was bradypsychic and rather slow in speech. The complementary tests done (cerebral and cervical CT and MR, bone gammography, evoked potentials, EMG-ENG, sural nerve biopsy, biopsy of skin and muscle, EEG and hormone and biochemistry studies) were normal. The torticollis was treated with botulinus toxin and improved considerably, as did the scoliosis. CONCLUSIONS: To date, dystonia has not been described in association with Sotos syndrome. This may be a causal association, or even perhaps hereditary, since the patient's mother had dystonia (in the form of blepharospasm).

Adolescent↗
PubMedDate not supplied

[Parkinson disease of juvenile onset with systemic lupus erythematosus in a pre-symptomatic stage].

INTRODUCTION: Parkinson's disease of juvenile onset is known to be rarely seen in clinical neurology. Occasionally it may be secondary to other pathological processes which have to be excluded by investigation of such cases, since the clinical, therapeutic and prognostic significance varies considerably depending on whether the condition is idiopathic or secondary. CLINICAL CASE: We present the case of a patient whose illness started when she was 16 years old. She complained of rigidity, tremor and akinesia. Her condition was studied to find whether the syndrome was secondary. Thus, on four occasions, at annual visits during a period of five years, immunological changes suggestive of systemic lupus erythematous were observed. Neuroimaging, magnetic resonance and computerized axial tomography studies were completely normal on all four occasions over the five years during which the patient had annual follow-up reviews. CONCLUSION: We considered whether the rigidity-akinesia-tremor syndrome might have been secondary to systemic lupus erythematous, due to a probable pathological focus of cerebral vasculitis, in this clinical case which we report.

Adolescent↗
PubMedDate not supplied

[Intrathecal perfusion pump with baclofen in generalized dystonia].

OBJECTIVES: We show the effectiveness of treatment with continuous intrathecal baclofen infusion in a case of hereditary generalized dystonia refractory to anticholinergics, tetrabenazine, pimozide, L-dopa, benzodiazepines and thalamotomy. CLINICAL CASE: A 26 years old female patient, when she was 11 years old began with torsion dystonia in her left feet, that progressively worsened to involve her entire body. She had painful spasms. She had four brothers, three of them with dystonia and one healthy. Her uncle grandfather had similar symptoms. Complementary explorations to reject secondary origin was negatives. She was treated with high and progressive dosages of anticholinergics, pimozide, tetrabenazine, benzodiazepines, L-dopa and thalamotomy without improvement. Underwent intrathecal baclofen test dosing, we used 25, 50, 100 micrograms/day, the last one with improvement during 10 hours. A pump was inserted with an initial dose of 220 micrograms/day. After pump insertion, baclofen dosage was gradually increased to 450 micrograms/day. She had a great improvement in right part of her body and less in her left body. Painful spasms had disappeared. CONCLUSION: We propose continuous baclofen intrathecal infusion pump for patients with severe torsion dystonia that not response to ordinal treatment.

Adult↗
PubMedDate not supplied

[Executive dysfunction in Huntington's disease].

INTRODUCTION: In the early stages of Huntington s disease (HD), there is selective vulnerability of the medium-sized spinous cells of the striate nucleus. These cells are connected with the dorsolateral prefrontal cortex, which is an area involved in cognitive processes concerning attention and executive function, forming part of one of the cortico-striatal circuits. OBJECTIVE: To analyze and interpret the executive dysfunction of a group of patients with HD at a moderately advanced stage. PATIENTS AND METHODS: We evaluated 16 patients and controls. Three clinical scales were used: the motor section of the UHDRS, the independence scale and the total functional capacity scale. For cognitive evaluation we used the study protocol of the Core Assessment Program for Intracerebral Transplantation for HD (CAPIT-HD). RESULTS: The patients with EH showed significant deterioration on the tests to evaluate cognitive function, attention and working memory. There were only two exceptions, the WEST and the direct order digit span. CONCLUSIONS: Patients with HD have executive dysfunction, probably due to dysfunction of the cortico-striatal circuits. We therefore agree with the proposal that fronto-striatal cognitive dysfunction is the most suitable name for the cognitive deterioration seen in this condition.

Adult↗
PubMedDate not supplied

[Hypothyroidism concealed by Parkinson's disease].

AIMS: Although it is commonly recognised that diseases of the thyroids can simulate extrapyramidal disorders, a review of the causes of Parkinsonism in the neurology literature shows that they are not usually mentioned or, if so, only very briefly. The development of hypothyroidism in a patient with Parkinson s disease can go undetected, since the course of both diseases can involve similar clinical features. Generally speaking there is always an insistence on the need to conduct a thyroidal hormone study in any patient with symptoms of Parkinson, but no emphasis is put on the need to continue to rule out dysthyroidism throughout the natural course of the disease, in spite of the fact that the concurrence of both pathological conditions can be high and that, in the same way hypothyroidism can simulate Parkinson s disease, the latter can also conceal hypothyroidism. CASE REPORT: We report the case of a female patient who had been suffering from Parkinson s disease for 17 years and started to present on off fluctuations that did not respond to therapy. Hypothyroidism was observed and the hormone replacement therapy used to resolve the problem allowed the Parkinsonian fluctuations to be controlled. CONCLUSIONS: We believe that it is very wise to suspect hypothyroidism in patients known to be suffering from Parkinson s disease, and especially so in cases where the clinical condition worsens and symptoms no longer respond properly to antiparkinsonian treatment. These observations stress the possible role played by thyroid hormones in dopaminergic metabolism and vice versa.

Aged↗
PubMedDate not supplied

[Clozapine and olanzapine in the treatment of the psychotic disorders in Parkinson's disease].

AIMS: The most important and serious neuropsychiatric disorders in Parkinson's disease (PD) are the medication-induced psychoses. They are remarkably frequent and are linked to a dopaminergic over-stimulation caused by the drugs administered over a long period of time. This complication increases the morbidity and mortality rates in PD and in the past it was very difficult to treat. Yet, the atypical antipsychotics have transformed its prognosis. DEVELOPMENT: We review the general pharmacology of the atypical antipsychotics, in particular clozapine and olanzapine, which we have wide experience with. We present two series in which these drugs were used with the psychosis in PD. Our studies were performed using a strict prospective methodology, with scales that are valid for psychosis, and the patients' motor signs. Both atypical antipsychotics were seen to improve the positive and negative symptoms of the patients, giving rise to no or scarce improvement of the motor signs of PD. The side effects of the two drugs were not important. Our two series are compared with others from the literature, with similar results as regards the improvements in the psychoses and the absence or only slight deterioration of Parkinson's disease. CONCLUSIONS: The psychoses induced by medication in PD are frequent and severe. The appearance of the atypical antipsychotics has come as a true 'revolution' in their treatment, owing to the good results obtained in the treatment of the psychoses and the scant deterioration of the motor signs of PD.

Antiparkinson Agents↗
PubMedDate not supplied

[The intrathecal baclofen pump in the long-term treatment of generalised dystonias].

INTRODUCTION: Much has been written in the literature about the use of intrathecal baclofen in an infusion pump in spasticity, but it has only recently been applied to cases of dystonia. AIMS: The purpose of this study was to determine whether intrathecal baclofen is a therapeutic option in patients with a long history of generalised dystonias who have failed to respond to conventional treatment. CASE REPORTS: We conducted a prospective study involving five patients from whom the following data were collected: age, sex, time since the onset of dystonia and the type of dystonia. They were also chosen because they had failed to respond to any kind of treatment, including oral baclofen, but had experienced a clinical improvement following the administration of baclofen by means of a spinal tap in progressive 25, 50, 75 and 100 mg boluses. The Burke-Fahn-Marsden scale was used before and after implanting the pump to evaluate functional capacity. Of the five patients, one improved remarkably to the point of being able to lead a normal life; three others showed marked improvements, although they are still to some extent limited when it comes to carrying out certain basic activities; and in the case of the third female patient the pump had to be withdrawn due to the absence of any kind of response. CONCLUSIONS: Intrathecal baclofen is a therapy that has only recently been introduced but these results allow us to state that it does bring about an improvement in the symptoms of patients with a long history of dystonia in whom conventional treatment has failed.

Adult↗
PubMedDate not supplied

[Orbital myositis].

Explore the source record for details and available documents.

Adolescent↗
PubMedDate not supplied

Blink reflex in 57 parkinsonian patients with correlation between the clinical and electrophysiological parameters.

An electrophysiological study of the blink reflex was undertaken in 25 control subjects and in 57 patients with Parkinson's disease. An increase in the ipsilateral and contralateral late response was the most evident finding. The excitability cycle of recovery of the R2 component of the blink reflex after a prior conditioning shock was enhanced in the patients. A statistically significant correlation was established between the increase in the late response and the severity of akinesia and rigidity.

Adult↗