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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 68-year-old man presenting with chronic intermittent diarrhea and progressive ataxia was found to have idiopathic hypoparathyroidism. Intrinsic factor-resistant vitamin B(12) malabsorption was demonstrated. Both the diarrhea and vitamin malabsorption were reversed by correction of hypocalcemia.His neurological profile was a combination of peripheral nerve, posterior column and cerebellar deficits. He had calcifications in the dentate nuclei of the cerebellum. Possible etiological factors such as vitamin B(12) deficiency, folic acid deficiency and steatorrhea have been excluded. Posterior column and cerebellar abnormalities improved with treatment. It is postulated that hypocalcemia causes functional, reversible spinal cord and cerebellar dysfunction.
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PMID:Idiopathic hypoparathyroidism with impaired vitamin B 12 absorption and neuropathy. 433 89

The case of a 16-year-old boy with occipital headache, diplopia, ataxia, and weakness in the lower extremities of 1-month duration is reported. Slowness of mentation, speech, and motor action was also present. Massive chronic hydrocephalus was indicated by an enlarged head. The prominent clinical features suggested involvement of the brainstem, and contrast studies showed compression of the brainstem and a filling defect posteriorly at C1-2. Brainstem auditory evoked potential latency suggested bilateral lesions of the brainstem. Posterior fossa decompression confirmed the presence of an Arnold-Chiari malformation, with the cerebellar tonsils as low as C-3. The fourth ventricle was microdissected and opened. Remarkable clinical and evoked potential recovery ensued over several months. Clinical-anatomic and anatomic-physiologic correlations in Arnold-Chiari malformation are discussed.
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PMID:Clinical and electrophysiologic recovery in Arnold-Chiari malformation. 662 43

Radiological and clinical analysis was performed in 5 patients with posterior fossa dural arteriovenous fistulas (DAVFs) with isolated sinus segment due to sinus thrombosis, and their patho physiological, diagnostic, and therapeutic concerns were discussed. Patients ranged in age from 36 to 73 years old with a mean of 57 years and included 2 males and 3 females. Two patients presented with ataxia, one with ataxia and bruit, one with atypical facial pain, and one with parietal dysfunction. One patient had a history of hemorrhagic event. DAVFs were located at transverse-sigmoid sinus (3 cases), superior petrosal sinus (1 case), and straight sinus (1 case). They were fed by many branches of external carotid artery including middle meningeal artery, ascending pharyngeal artery, posterior auricular artery, occipital artery, meningeal branches of vertebral artery and posterior cerebral artery, and meningohypophyseal trunk of internal carotid artery. Shunt flow drained into contralateral transverse-sigmoid or supratentorial sinuses via the isolated venous segment through markedly dilated cortical and/or deep venous systems, which caused altered normal venous drainage pattern and venous hypertension. Transarterial embolization in multiple stages (mean 3.4) using n-butyl cyanoacrylate (NBCA) could alleviate symptoms in all cases. DAVFs were almost totally obliterated in 3 patients. Further embolization in one case, and surgical excision in one case were planed because of some residual dilated cortical venous drainage. Posterior fossa DAVFs with isolated sinus segment accompany markedly dilated cortical and/or deep venous systems. They could cause cerebellar, brainstem, or cranial nerve dysfunctions, and sometimes present distant supratentorial symptoms or hydrocephalus due to abnormal venous drainage and venous hypertension.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Posterior fossa dural arteriovenous fistula with isolated sinus segment]. 821 93

Craniometaphyseal dysplasia (CMD) is a very rare disorder of bone remodelling characterised by sclerosis of the skull base, vault and facial bones and metaphyseal splaying of tubular bones. The recessive form appears to be more severe than the dominant. Cranial nerve deficits have been reported in infancy and early childhood in a few patients, but the long-term history of recessive CMD is not well documented. We report cerebellomedullary compression in a girl with recessive CMD recognised at 14 years because of progressive truncal ataxia. MRI revealed backward angulation of the thickened clivus, narrowing of the foramen magnum and upward deviation of the cerebellum by a markedly thickened occipital squama, tonsillar herniation and obliteration of the infratentorial cerebrospinal fluid spaces. Posterior cranial fossa decompression resulted in marked improvement of the ataxia. Compression of posterior cranial fossa structures has to be considered in the natural history and management of CMD.
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PMID:Cerebellomedullary compression in recessive craniometaphyseal dysplasia. 881 14

Early alexia and higher visual impairments characterize Posterior cortical atrophy (PCA), a progressive dementing syndrome most often caused by Alzheimer disease. Posterior cortical atrophy is rare, and the nature of the visual impairments in PCA are unclear. The authors observed two patients who had an insidiously progressive reading difficulty characterized by letter-by-letter reading and otherwise intact cognitive functions. Over time, these patients developed "ventral simultanagnosia" with preserved detection of multiple stimuli but inability to interpret whole scenes. Subsequently, they progressed to Balint syndrome with "dorsal simultanagnosia," optic ataxia, and oculomotor apraxia. Structural imaging was normal, but functional imaging revealed posterior cortical dysfunction. On a letter reading task, both patients had a word superiority effect, and on a whole word reading task, they could not read most words with missing or crosshatched letters. An inability to assess whole scenes progressed to an inability to detect more than one stimulus in an array. These findings suggest an evolution of PCA with progressive difficulty in visual integration beginning with letters, progressing to whole scenes, and culminating in Balint syndrome. These changes may reflect an extension of the pathophysiology of PCA from the extrastriate visual cortex to its occipitotemporal and occipitoparietal connections.
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PMID:The evolution of alexia and simultanagnosia in posterior cortical atrophy. 965 88

Cerebellar mutism was first described by Rekate et al. in 1985 as a transient condition which occurs after posterior fossa operations in children. Posterior fossa syndrome (PFS) and cerebellar mutism are often used interchangeably in the literature. In our experience, we found cerebellar mutism to be a reversible component of a persistent neurologic syndrome. The cause and identifiable risk factors have not been clearly elucidated in the literature. To further characterize PFS, we reviewed 253 children with posterior fossa tumors who underwent surgical resection. We documented 20 cases of PFS (8%), 12 males and 8 females. Age ranged from 1.5 to 13 years (mean = 6.5). Of the 20, 16 were medulloblastoma, 3 ependymoma and 1 astrocytoma. There was a 21 % incidence (16/76) of PFS in medulloblastoma of the posterior fossa. The incidence for ependymoma was 13% (3/24) and 1% (1/102) for astrocytoma. All 20 cases (100%) had brainstem involvement by the tumor. The most frequent postoperative findings included mutism, ataxia, 6th and 7th nerve palsies and hemiparesis. Mutism had a latency range of 1-7 days (mean = 1.7) and a duration of 6-365 days (mean = 69.2, median = 35). Although mutism resolved in all cases, the remaining neurologic complications which characterized our findings of PFS were rarely reversible. We describe potential risk factors for developing PFS after surgery with hopes of making neurosurgeons more aware of potential problems following the removal of lesions in this area. Early recognition of PFS would further promote patient and family understanding and coping with this syndrome.
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PMID:Posterior fossa syndrome: identifiable risk factors and irreversible complications. 1070 54

Posterior cortical atrophy is a striking clinical syndrome in which a dementing illness begins with visual symptoms. Initially, the problem may seem to be loss of elementary vision, but over time the patient develops features of visual agnosia, topographical difficulty, optic ataxia, simultanagnosia, ocular apraxia (Balint's syndrome), alexia, acalculia, right-left confusion, and agraphia (Gerstmann's syndrome), and later a more generalized dementia. Occasional patients have visual hallucinations and signs of Parkinson's disease or Lewy body dementia. A number of different neuropathologic disorders are associated with posterior cortical atrophy.
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PMID:Posterior cortical atrophy: a brief review. 1707 82

Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to developmental problems in a marked to moderate extent. More detailed analyses reveal special deficits in attention, processing speed, visuospatial functions and language. A study about Dandy Walker syndrome states a relationship of abnormalities in vermis lobulation with developmental problems. Further lobulation or volume abnormalities of the cerebellum and/or vermis can be detected in disorders as fragile X syndrome, Downs's syndrome or William's syndrome. Neuropsychological studies reveal a relation of dyslexia and attention deficit disorder with cerebellar functions. These functional studies are supported by structural abnormalities in neuroimaging in these disorders. Acquired cerebellar or vermis atrophy was found in groups of children with developmental problems such as prenatal alcohol exposure or extreme prematurity. Also focal lesions during childhood or adolescence such as cerebellar tumour or stroke are related with neuropsychological abnormalities, which are most pronounced in visuo-spatial, language and memory functions. In addition, cerebellar atrophy was shown to be a bad prognostic factor considering cognitive outcome in children after brain trauma and leukaemia. In ataxia teleangiectasia, a neurodegenerative disorder affecting primarily the cerebellar cortex, a reduced verbal IQ and problems of judgment of duration are a hint of the importance of the cerebellum in cognition. In conclusion, the cerebellum seems to play an important role in many higher cognitive functions especially in learning. There is a suggestion that the earlier the incorrect influence the more pronounced the problems.
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PMID:The cerebellum in cognitive processes: supporting studies in children. 1778 20

Posterior Fossa Syndrome (PFS) is a constellation of neurological, behavioural and psychological symptoms occurring in pediatric patients following surgical resection of posterior fossa brain tumours. The clinical presentation of PFS typically includes cerebellar mutism, bulbar dysfunction, ataxia, cranial nerve palsies, flaccid hemiparesis and emotional lability. The intent of this paper is to (a) provide an overview of PFS, (b) explore the case of a 16-year-old adolescent who presented with PFS following surgical resection of a fourth ventricle medulloblastoma, (c) reveal the complexity of her discharge, and (d) describe a discharge management framework used by the authors to guide the discharge process from a general pediatric unit in a tertiary care hospital.
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PMID:Discharge management of an adolescent female with posterior fossa syndrome: a case report. 1885 94

Over the last decade, increasing evidence of cognitive functions of the cerebellum during development and learning processes could be ascertained. Posterior fossa malformations such as cerebellar hypoplasia or Joubert syndrome are known to be related to developmental problems in a marked to moderate extent. More detailed analyses reveal special deficits in attention, processing speed, visuospatial functions, and language. A study about Dandy Walker syndrome states a relationship of abnormalities in vermis lobulation with developmental problems. Further lobulation or volume abnormalities of the cerebellum and/or vermis can be detected in disorders as fragile X syndrome, Downs's syndrome, William's syndrome, and autism. Neuropsychological studies reveal a relation of dyslexia and attention deficit disorder with cerebellar functions. These functional studies are supported by structural abnormalities in neuroimaging in these disorders. Acquired cerebellar or vermis atrophy was found in groups of children with developmental problems such as prenatal alcohol exposure or extreme prematurity. Also, focal lesions during childhood or adolescence such as cerebellar tumor or stroke are related with neuropsychological abnormalities, which are most pronounced in visuospatial, language, and memory functions. In addition, cerebellar atrophy was shown to be a bad prognostic factor considering cognitive outcome in children after brain trauma and leukemia. In ataxia teleangiectasia, a neurodegenerative disorder affecting primarily the cerebellar cortex, a reduced verbal intelligence quotient and problems of judgment of duration are a hint of the importance of the cerebellum in cognition. In conclusion, the cerebellum seems to play an important role in many higher cognitive functions, especially in learning. There is a suggestion that the earlier the incorrect influence, the more pronounced the problems.
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PMID:Cerebellar disorders in childhood: cognitive problems. 1905 77


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