ABSTRACT
We report the case of a 56-years-old woman patient, born to unrelated parents, who since 26-years-old gradually developed bradykinesia, rigidity, tremor of both hands, and speech and gait difficulties. Her past history was unremarkable. There was no family history of neurologic disease. She was admitted to our Hospital at age 39 and at that time she presented a full parkinsonian syndrome. The following tests were normal or negative: routine blood studies, serum copper, ceruloplasmin and cerebrospinal fluid examination. There was not Kayser-Fleicher ring, and fundoscopic examination revealed no abnormalities. Levodopa was introduced and response was good for more than ten years, despite early-onset of dyskinesias (three months after the introduction of the drug). After 30 years under levodopa she still presents a moderate response but with severe fluctuations of the motor performance. Except for slowness of cognition she developed no other neuropsychological impairments, and a recent neurological examination disclosed no abnormalities besides a parkinsonian syndrome. One year ago, a magnetic resonance imaging (MRI) was performed and showed bilateral, symmetrical lesions with "eye-of-the-tiger" pattern. This case illustrates the pathological heterogeneity of early-onset parkinsonism and suggests the possibility to find the typical MRI lesions seen in Hallervorden-Spatz disease in other degenerative affections involving globus pallidus.
Subject(s)
Globus Pallidus/pathology , Magnetic Resonance Imaging , Parkinson Disease, Secondary/diagnosis , Diagnosis, Differential , Female , Humans , Middle Aged , Pantothenate Kinase-Associated Neurodegeneration/diagnosisABSTRACT
Paroxysmal choreoathetosis (PC) is a rare entity, and professionals who study movement disorders do not find it easily. Paroxysmal occurrence of dystonic, choreic, athetosic movements is the typical feature of this syndrome. The onset is always subtle and the attacks can last from few seconds to hours. Sporadic cases and more common familial cases have been reported. The therapeutic approach with anticonvulsant drugs like carbamazepine is not always successful. However, there is a good response to this drug in the kinesigenic form of PC. The case of a 21 years old male patient is reported here. The onset occurred during puberty, at 14 years old. Neurologic examination was normal between attacks. Subtle and brief choreic, athetosic and dystonic limb and legs movements precipitated by sudden quick and unexpected passive movements, as by startle, were observed during the attacks. There was no familial history. Routine laboratorial investigation, EEG, CT scan and MRI did not show significant changes. Carbamazepine in low dosages (100 mg/day) brought a complete control of the attacks.
Subject(s)
Athetosis/drug therapy , Carbamazepine/therapeutic use , Chorea/drug therapy , Movement Disorders/drug therapy , Adult , Athetosis/complications , Chorea/complications , Humans , Male , Movement Disorders/complicationsABSTRACT
A coreatetose paroxística (CP) é entidade rara. Até mesmo profissionais que estudam desordens do movimento näo costumam vê-la com freqüência. A ocorrência paroxística de moviemtnos distônicos, coréicos e atetósicos é a apresentaçäo típica da síndrome. O início costuma ser abrupto e os ataques podem durar de alguns segundos até horas. Casos esporádicos e, mais frequentemente,casos familiares têm sido relatados. A abordagem terapêutica com anticonvulsivantes, como a carbamazepina, nem sempre tem sucesso. Com esta droga, porém, geralmente há boa resposta na variante cinesiogênica da CP. É relatado o caso de um paciente jovem do sexo masculino com essa variante da CP. O início da doença se deu na puberdade. O exame neurológico era normal entre os ataques. A investigaçäo laboratorial, EEG, TC de crânio e RNM de segmento cefálico foram normais. Carbamazepina em doses baixas (100 mg/dia) foi eficaz no manejo dos ataques
Subject(s)
Adult , Humans , Male , Athetosis/drug therapy , Carbamazepine/therapeutic use , Chorea/drug therapy , Movement Disorders/classificationABSTRACT
Ethylene oxide is a gas widely used in the production of industrial chemicals. It is also used to sterilize heat-sensitive medical supplies. Previous reports of acute and chronic exposure have described neurotoxic effects like peripheral neuropathy and cognitive impairment. We describe a pure parkinsonian syndrome following acute ethylene oxide intoxication. A 39-years-old male was referred to our Movement Disorders Clinic for evaluation of a parkinsonian syndrome. He was acutely exposed to ethylene oxide four years before and remained comatose for three days, and gradually regained consciousness. At that time he showed a global parkinsonian syndrome including bradykinesia, rigidity and rest tremor, with a severe motor disability; no other neurological disorders were found. The symptomatology was partially controlled with biperidene and levodopa plus carbidopa. Two years later he developed L-dopa induced dyskinesias. Four years after the intoxication he was evaluated at our clinic. General examination showed no abnormalities. Neurologic examination revealed a normal mental status. Motor evaluation disclosed moderate bradykinesia, rigidity and rest tremor, shuffling gait, poor facial mimic, stooped posture, and his speech was low and monotonous; deep tendon reflexes were brisk. The Hoehn-Yahr disability score was degree IV. Routine laboratory and radiological exams showed results within normal limits. The CSF examination was normal. Brain computed tomography and magnetic ressonance were normal. A trial with bromocriptine and levodopa plus carbidopa did not improve dyskinesia, and he was put on a schedule including amantadine and biperidene with improvement to grade III in Hoehn-Yahr scale. In the present case there was a clear relation between the acute exogenous intoxication and irreversible parkinsonism.(ABSTRACT TRUNCATED AT 250 WORDS)
Subject(s)
Ethylene Oxide/poisoning , Parkinson Disease, Secondary/chemically induced , Adult , Humans , Male , Parkinson Disease, Secondary/drug therapyABSTRACT
Sixty-four cases of idiopathic Parkinson's disease were studied focusing the neuropsychological performance. To all subjects a brief mental status questionnaire was administered (30 items). Cases with a performance below normal and meeting the dementia criteria of the Diagnosis and Statistical Manual of Mental Disorders, third edition (DSM III), were considered demented. This evaluation showed that 12 of the 64 patients had dementia, a prevalence rate of 18.7%. Patients that had neuropsychological performance below normal showed more severe bradykinesia than normals. Short term memory, abstract thinking, visual gnosia, calculations, dynamic motor function of hands, constructional ability and recent memory were the most affected psychological functions. The significance of the mentioned findings is discussed and the literature reviewed.
Subject(s)
Cerebral Cortex/physiopathology , Dementia/physiopathology , Parkinson Disease/physiopathology , Psychomotor Performance/physiology , Aged , Dementia/complications , Female , Humans , Male , Middle Aged , Neuropsychological Tests , Parkinson Disease/complicationsABSTRACT
Ninety-five cases of hepatolenticular degeneration have been studied, focusing particularly the clinical and laboratory characterization of the disease. On the clinical viewpoint the variability of the starting symptoms and the frequency of the Kayser-Fleischer rings were analyzed. As regards the laboratory findings the ceruloplasmin, blood and urinary copper, and aminoaciduria levels have been evaluated, as well as the radiological and scintillographic study of joints and bones, cranial computerized tomography and liver biopsy. In 54.4% of the cases the opening clinical picture was neurological, in 31.1% hepatic, in 14.4% psychiatric, in 7.8% osteoarticular, in 2.2% ophtalmologic (Kayser-Fleischer rings), in 1.1% hematologic (hemolytic anemia), and in 1.1% cardiac. Kayser-Fleischer rings were present in 84 of the 92 cases in which they have been searched for (91.3%). Concerning the laboratory findings, hypoceruloplasminemia was found in 98.8% of the cases in which it was investigated, hyperaminoaciduria in 94.7%, hypocupremia in 87.0%, increased cupruresis in 78.2%, osteoporosis in 79.4%, scintillographic changes of the joints in 67.6%; the CT-scan, performed in 11 cases, showed low attenuation areas in the basal ganglia of 2 patients. The significance of the mentioned laboratory findings and the presence of the Kayser-Fleischer rings for the diagnosis of Wilson's disease is discussed.