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11/17. delayed diagnosis of spinal dural arteriovenous fistula in the absence of pathological vessels on MRI.

    The authors report on a 69-year-old man presenting with progressive leg weakness and gait ataxia over two years. A central intramedullary cord lesion ranging from T8-12 on MR imaging was misdiagnosed as a low-grade glioma and a biopsy was attempted followed by temporary clinical deterioration. Selective spinal angiography revealed a spinal dural arteriovenous (AV) fistula on the left L3 nerve root sheath despite the absence of pathological vessels on MR imaging. The fistula was successfully treated by microsurgical interruption of the arterialized intradural vein. The present case should remind us to include selective spinal angiography in our diagnostic work-up in patients predisposed for spinal dural AV fistula by male sex, advanced age and clinical presentation of slowly progressive sensorimotor symptoms with myelopathy on MR imaging, even in the absence of any pathological vascular structures.
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ranking = 1
keywords = ataxia
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12/17. A case of familial Creutzfeldt-Jakob disease presenting with dry cough.

    BACKGROUND: Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide. CASE REPORT: Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough. CONCLUSIONS: The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.
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keywords = ataxia
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13/17. Caudal paramedian midbrain syndrome.

    BACKGROUND: Caudal midbrain lesions involving the entire decussation of the superior cerebellar peduncles have a distinctive clinical picture: bilateral cerebellar ataxia, eye-movement disorders, and palatal myoclonus. Occasionally, unilateral lesions may produce a similar neurologic picture. OBJECTIVE: To define the clinical and radiologic picture of patients with unilateral lower midbrain ischemic lesions of the decussation of the brachium conjunctivum. methods: Five patients with MRI evidence of unilateral paramedian caudal midbrain infarction were investigated, after the acute stage. RESULTS: All patients had bilateral cerebellar dysfunction characterized by dysarthric speech, truncal and gait ataxia, and dysmetric movements of the limbs, which were more pronounced on one side. Ocular movement abnormalities were observed in three cases. A constant MRI finding was a bilateral inferior olivary degeneration, but only one patient displayed a delayed palatal tremor. CONCLUSIONS: A single strategically placed unilateral lesion can cause bilateral dysfunction. In addition, a bilateral cerebellar syndrome can occur with unilateral lesions in the lower midbrain with a wide range of other clinical features.
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ranking = 3.7375129951712
keywords = cerebellar ataxia, ataxia
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14/17. Acute fright induces onset of symptoms in vanishing white matter disease-case report.

    Vanishing white matter disease is a newly recognised leukoencephalopathy of identified genetic background, characterised by cystic degeneration and progressive vanishing of white matter. The characteristic clinical symptoms are spasticity and ataxia with relatively preserved cognitive functions. A characteristic feature of the disease is the occurrence of the symptoms after a physical stress situation such as mild head trauma or febrile infection. We would like to present a case of a 6-year-old girl whose first symptoms of the disease occurred after being frightened by a horse.
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keywords = ataxia
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15/17. Predominant motor symptoms in a 74-year-old man with a small elongation in the spinocerebellar atrophy type 1 gene.

    The patient was a 74-year-old man who developed gait and bulbar disturbances, which progressed for several years. His mother and a sister complained of a similar disturbance. On admission, generalized muscle atrophy and weakness were prominent, especially in the distal portions of the legs, with bulbar involvement. The patellar tendon reflexes were retained and the achilles tendon reflexes were decreased with a positive right Babinski's sign. The ocular movements were restricted in vertical directions and, to a lesser extent, in horizontal directions. Sensory disturbance, ataxia, and extrapyramidal signs were not apparent on admission. A needle electromyogram demonstrated neurogenic changes. The laboratory examination was normal except for elevated blood glucose (320 mg/dL) and creatine kinase (1760 U/L). His general condition deteriorated so rapidly that intractable respiratory distress due to pneumonia led to a fatal outcome. The clinical diagnosis was motor neuron disease, although a familial background and a disturbance in ocular movements might have suggested other possibilities.
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ranking = 1
keywords = ataxia
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16/17. The adult form of Niemann-Pick disease type C.

    Niemann-Pick disease type C (NPC) is a fatal neurovisceral lipid storage disease of autosomal inheritance resulting from mutations in either the NPC1 (95% of families) or NPC2 gene. The encoded proteins appear to be involved in lysosomal/late endosomal transport of cholesterol, glycolipids and other molecules but their exact function is still unknown. The clinical spectrum of the disease ranges from a neonatal rapidly fatal disorder to an adult-onset chronic neurodegenerative disease. Based upon a comprehensive study of 13 unrelated adult patients diagnosed in france over the past 20 years as well as the analysis of the 55 other cases published since 1969, we have attempted to delineate the major clinical, radiological, biochemical and genotypic characteristics of adult NPC. overall, mean age at onset ( /-SD) of neuropsychiatric symptoms was 25 /- 9.7 years. The diagnosis of NPC was established after a mean delay of 6.2 /- 6.4 years and the mean age at death (calculated from 20 cases) was 38 /- 10.2 years. Major clinical features included cerebellar ataxia (76%), vertical supranuclear ophthalmoplegia (VSO, 75%), dysarthria, (63%), cognitive troubles (61%), movement disorders (58%), splenomegaly (54%), psychiatric disorders (45%) and dysphagia (37%). Less frequent signs were epilepsy and cataplexy. During the course of the disease, clinical features could be subdivided into (i) visceral signs (hepatomegaly or splenomegaly), (ii) cortical signs (psychiatric cognitive disorders and epilepsy); and (iii) deep brain signs (VSO, ataxia, movement disorders, dysarthria, dysphagia, cataplexy) which exhibited different evolution patterns. Asymptomatic and non-evolutive visceral signs were often noticed since early childhood (38.5% of our patients), followed by mild cortical signs in childhood (learning difficulties) and early adulthood (62% of cases among which 38% were psychiatric disorders). Deep brain signs were observed in 96% of patients and were usually responsible for death. In general, there was a good correlation between clinical signs and the localization of brain atrophy on MRI. The 'variant' biochemical phenotype characterized by mild abnormalities of the cellular trafficking of endocytosed cholesterol was over-represented in the adult form of NPC and seemed associated with less frequent splenomegaly in childhood and lesser psychiatric signs. Involvement of the NPC1 gene was shown in 33 families and of the NPC2 gene in one. Improving the knowledge of the disease among psychiatrists and neurologists appears essential since emerging treatments should be more efficient at the visceral or cognitive/psychiatric stages of the disease, before the occurrence of widespread deep brain neurological lesions.
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ranking = 3.7375129951712
keywords = cerebellar ataxia, ataxia
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17/17. betamethasone and improvement of neurological symptoms in ataxia-telangiectasia.

    BACKGROUND: To our knowledge, there have been no reports on the control of central nervous system symptoms in patients with ataxia-telangiectasia. OBJECTIVE: To preliminarily determine the effectiveness of corticosteroid therapy on the central nervous system symptoms of a child with ataxia-telangiectasia in whom neurological signs improved when, occasionally, he was given betamethasone to treat asthmatic bronchitis attacks. DESIGN: Case report. SETTING: Tertiary care hospital.Patient A 3-year-old boy with the classic hallmarks and a proved molecular diagnosis of ataxia-telangiectasia. INTERVENTIONS: We used betamethasone, 0.1 mg/kg per 24 hours, divided every 12 hours, for 4 weeks to preliminarily determine its effectiveness on the child's central nervous system symptoms and its safety. methylprednisolone, 2 mg/kg per 24 hours, divided every 12 hours, was then given in an attempt to perform a long-term treatment. RESULTS: There were improvements in the child's neurological symptoms 2 or 3 days after the beginning of the drug treatment. After 2 weeks of treatment, the improvement was dramatic: the disturbance of stance and gait was clearly reduced, and the control of the head and neck had increased, as had control of skilled movements. At 4 weeks of treatment, adverse effects mainly included increased appetite and body weight and moon face. No beneficial effect was obtained when, after 4 weeks, betamethasone was replaced with methylprednisolone. Six months later, without therapy, the child continued to experience severe signs of central nervous system impairment. CONCLUSION: Controlled studies to better understand the most appropriate drug and therapeutic schedule are required.
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ranking = 7
keywords = ataxia
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