1/95. Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1.We report three children, all younger than 2 years of age, presenting with cerebellar atrophy related to carbohydrate-deficient glycoprotein syndrome type 1, an autosomal recessive metabolic disease. One patient had multisystem disease; two others had mental retardation with ataxia. In all cases the cerebellar atrophy was diagnosed on magnetic resonance imaging and, in one case, confirmed by autopsy. The cerebellar atrophy predominantly affected the anterior lobe. Vertical orientation of the tentorium cerebelli from the neonatal period in two cases suggests antenatal onset of the disease. Biological tests confirmed the diagnosis in all cases.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
2/95. Reversible cerebellar involvement in the idiopathic hypereosinophilic syndrome.We report a patient with cerebellar manifestations due to the idiopathic hypereosinophilic syndrome, in whom magnetic resonance imaging (MRI) showed hyper-intense lesions in both cerebellar hemispheres. Following steroids and hydroxyurea administration, the lesions on MRI disappeared, suggesting that the pathogenetic mechanism was reversible and did not cause significant structural damage. To our knowledge, the resolution of the abnormal MRI findings have not been reported to date in the idiopathic hypereosinophilic syndrome.- - - - - - - - - - ranking = 0.011608820154104keywords = idiopathic (Clic here for more details about this article) |
3/95. Cerebellar dysfunction in chronic toluene abuse: beneficial response to amantadine hydrochloride.CASE REPORT: A 21-year-old man who had sniffed toluene since the age of 13 presented with a 4-year history of progressive cerebellar dysfunction and visual deterioration. The patient's condition did not improve despite 5 months of abstinence. magnetic resonance imaging revealed cerebral atrophy and hypointensity signals in the white matter and bilaterally in the globus pallidus, thalamus, red nucleus, and substantia nigra. amantadine hydrochloride therapy (100 mg/d, then 200 mg/d) resulted in dramatic improvement of his cerebellar and visual symptoms.- - - - - - - - - - ranking = 0.14285714285714keywords = atrophy (Clic here for more details about this article) |
4/95. Acute cerebellar hemorrhage in a patient with klinefelter syndrome: XXY karyotype obtained postmortem from cells from pericardial fluid.A case of klinefelter syndrome and a spontaneous cerebellar hemorrhage in a 12-year-old boy is presented. autopsy revealed that the hemorrhage was due to the rupture of a dilated artery in an arteriovenous malformation in the right cerebellar hemisphere. The small, undescended testes exhibited partial atrophy of the seminiferous tubules. Postmortem chromosome analysis of cells from the pericardial fluid demonstrated a 47, XXY karyotype. He had previous surgical treatment for bilateral thumb polydactyly and patent ductus arteriosus. In juvenile cases of sudden death with overlapping morphological dysgenesis, postmortem karyotyping may provide important diagnostic information.- - - - - - - - - - ranking = 0.14285714285714keywords = atrophy (Clic here for more details about this article) |
5/95. Anterior horn cell disease and olivopontocerebellar hypoplasia.To date, fewer than 30 cases of anterior horn cell disease with associated olivopontocerebellar hypoplasia have been reported. We describe five patients and review the literature on this uncommon disorder. In addition to a syndrome of progressive spinal muscular atrophy similar to that seen in Werdnig-Hoffmann disease, this disorder is characterised by hypoplasia of the olivary nuclei, pons, and cerebellum. Additional clinical features may include dysmorphism, abnormal eye movements, stridor, congenital joint contractures, and enlarged kidneys. Pontocerebellar hypoplasia may be associated with posterior fossa cystic malformations, cerebral atrophy, and a demyelinating neuropathy.- - - - - - - - - - ranking = 545.67148511748keywords = olivopontocerebellar, atrophy (Clic here for more details about this article) |
6/95. Cerebellar cortical degeneration disrupts discrimination learning but not delay or trace classical eyeblink conditioning.The authors investigated classical eyeblink conditioning in a relatively rare patient, B.R., with extensive cerebellar cortical atrophy and marked sparing of the dentate nucleus. Patient B.R.'s ability to acquire and extinguish simple associations (delay and trace conditioning tasks) as well as her ability to acquire more complex associations (temporal and simple discrimination tasks) were examined. There are 2 primary findings from this study. First, B.R. showed normal acquisition and extinction in delay and trace conditioning. Second, she demonstrated a complete inability to learn associative discriminations, even in the case of a simple 2-tone discrimination within the context of a delay paradigm. The latter finding was unexpected because of the sparing of her deep cerebellar nuclei. These data suggest that the cerebellar cortex, or pathways traversing cerebellar cortex, play an important role in classical eyeblink discrimination learning.- - - - - - - - - - ranking = 0.14285714285714keywords = atrophy (Clic here for more details about this article) |
7/95. Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology.A 67-year-old woman had frequent subacute ileus, hearing difficulty, muscle atrophy and stroke-like episodes. Computed tomography revealed multiple low-density areas, which did not correlate with the vascular supply, in the cerebral cortex. She had metabolic disturbance comprising lactic acidosis and elevated pyruvate level. Her skeletal muscle biopsy specimen showed ragged-red fibers, and mitochondrial dna analysis revealed a point mutation at position 3243, findings consistent with MELAS. Examination of her small intestine revealed a necrotic zone and numerous abnormal large mitochondria in the smooth muscle cells, vascular media and endothelium, and intestinal ganglion cells. The cerebral cortex showed multiple microcystic necrotic foci in cerebral cortex. Cactus-like pathology resembling the changes associated with Menkes' kinky hair disease and torpedoes were observed in the cerebellar purkinje cells. The intestinal dysmotility due to MELAS and cerebellar changes were presumed to be associated with a disturbance of copper metabolism.- - - - - - - - - - ranking = 0.14285714285714keywords = atrophy (Clic here for more details about this article) |
8/95. Dysembryoplastic neuroepithelial tumour and cerebellar atrophy: case report.Dysembryoplastic neuroepithelial tumours (DNET) are mainly benign cortical lesions. DNET in the caudate nucleus, thalamus, hypothalamus, pons and cerebellar hemispheres has also been reported. We describe a fronto-temporo-parietal DNET extending to the ipsilateral thalamus and internal capsule, associated with cerebellar lobe atrophy. Involvement of the internal capsule and complication of DNET with cerebellar atrophy have not been reported previously. We emphasise the importance of early diagnosis and treatment of this rare condition.- - - - - - - - - - ranking = 0.85714285714286keywords = atrophy (Clic here for more details about this article) |
9/95. Positional down beating nystagmus in 50 patients: cerebellar disorders and possible anterior semicircular canalithiasis.OBJECTIVES: To clarify the clinical significance of positional down beat nystagmus (pDBN). methods: A discussion of the neuro-otological findings in 50 consecutive patients with pDBN. RESULTS: In 38 patients there was evidence of CNS disease (central group) but in 12 there was not (idiopathic group). In the CNS group, presenting symptoms were gait, speech, and autonomic dysfunction whereas in the idiopathic group patients mostly reported positional vertigo. The main neurological and oculomotor signs in the CNS group were explained by cerebellar dysfunction, including 13 patients with multiple system atrophy. In patients with multiple system atrophy with a prominent extrapyramidal component, the presence of pDBN was helpful in the differential diagnosis of atypical parkinsonism. No patient with pDBN had the arnold-chiari malformation, a common cause of constant down beat nystagmus (DBN). In the idiopathic group, the pDBN had characteristics which suggested a peripheral labyrinthine disorder: vertigo, adaptation, and habituation. In six patients an additional torsional component was found (concurrently with the pDBN in three). Features unusual for peripheral disorder were: bilateral positive Dix-Hallpike manoeuvre in nine of 12 patients and selective provocation by the straight head-hanging manoeuvre in two. CONCLUSION: It is argued that some patients with idiopathic pDBN have benign paroxysmal positional vertigo (BPPV) with lithiasis of the anterior canal. The torsional component may be weak, because of the predominantly sagittal orientation of the anterior canal, and may not be readily seen clinically. Nystagmus provocation by bilateral Dix-Hallpike and straight head-hanging may be explained by the vertical upwards orientation of the ampullary segment of the anterior canal in the normal upright head position. Such orientation makes right-left specificity with the Dix-Hallpike manoeuvre less important than for posterior canal BPPV. This orientation requires a further downwards movement of the head, often achieved with the straight head-hanging position, to provoke migration of the canaliths. The straight head-hanging manoeuvre should be carried out in all patients with a history of positional vertigo and a negative Dix-Hallpike manoeuvre.- - - - - - - - - - ranking = 0.29345349915036keywords = atrophy, idiopathic (Clic here for more details about this article) |
10/95. Hereditary neuronal intranuclear inclusion disease with autonomic failure and cerebellar degeneration.BACKGROUND: Neuronal intranuclear inclusion disease (NIID), a multiple-system degeneration, occurs usually as a sporadic disorder with onset in childhood. The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations. OBJECTIVE: To investigate the clinical, anatomical, and electrophysiological characteristics of NIID that affect the central nervous system and the central and peripheral components of the autonomic nervous system in 2 successive generations of a family. DESIGN: Case report. SETTING: Tertiary care hospital. patients: A 53-year old woman and her sons, aged 28 and 25 years. Symptoms began in childhood in 2 of the 3 cases, and consisted of urinary and fecal incontinence, erectile dysfunction in the men, and recurrent orthostatic hypotension. methods: We used results of clinical neurological evaluations; cranial magnetic resonance imaging; skeletal muscle and sphincter electromyography (EMG); peripheral nerve conduction and bulbocavernosus reflex studies; autonomic function tests; brainstem, visual, somatosensory, and motor evoked potentials; auditory and vestibular testing; metabolic and molecular genetic testing; and muscle and rectal biopsy with immunohistochemistry. RESULTS: We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria and limb ataxia in 1, and hyperreflexia in 2. magnetic resonance imaging revealed cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in 1. Results of peripheral nerve conduction studies were normal. Sphincter EMG findings were abnormal in 2 of the 3 cases, and results of autonomic function tests were abnormal in the same 2. The EMG in 1 case revealed a chronic neurogenic pattern in the distal limb muscles. Metabolic and molecular genetic testing revealed no abnormal findings. Results of the muscle biopsy were negative, but results of the rectal biopsy revealed eosinophilic ubiquitinated intranuclear inclusions in neurons. CONCLUSION: Transmission of NIID in 2 generations presenting with autonomic failure and cerebellar ataxia was hereditary.- - - - - - - - - - ranking = 0.28571428571429keywords = atrophy (Clic here for more details about this article) |
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