Cases reported "Ataxia"

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1/109. vitamin e deficiency ataxia associated with adenoma.

    Vitamin E is one of the most important lipid-soluble antioxidant nutrient. Severe vitamin e deficiency (VED) can have a profound effect on the central nervous system. VED causes ataxia and peripheral neuropathy that resembles Friedreich's ataxia. We report here a patient presenting this syndrome, but also a prolactin and FSH adenoma. Both the neurological syndromes and the adenoma regressed after treatment with alpha-tocopherol. Although, the presence of the prolactinoma in this patient may not be related to his vitamin e deficiency, alpha-tocopherol treatment seems to be beneficial and might usefully be tested in patients with hypophyseal secreting other forms of adenoma.
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ranking = 1
keywords = neuropathy
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2/109. Immunoadsorption plasmapheresis in acute ataxic neuropathy.

    Acute ataxic neuropathy is characterized by sensory ataxia and areflexia. There is no established treatment. We tried immunoadsorption plasmapheresis 15 days after the onset for a 46-year-old woman suffering from this neuropathy. She could not walk even with assistance because of sensory ataxia. A sural nerve biopsy revealed active axonal degeneration and loss of myelinated fibers. We tried 5 sessions of plasmapheresis during 2 weeks. She could walk with assistance 12 days after the beginning of the plasmapheresis treatment. It took 3 months for her to be able to walk over 5 m without assistance, and she had severe sensory ataxia over a 17 month follow-up period. Immunoadsorption plasmapheresis started within 2 weeks after the onset of acute ataxic neuropathy may have beneficial effects if the axonal degeneration is mild. The plasmapheresis, however, should be continued for a longer period. A double blind study is necessary to clarify the effectiveness of this treatment on acute ataxic neuropathy.
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ranking = 8
keywords = neuropathy
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3/109. Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2.

    A 68 year old woman with sporadic Creutzfeldt-Jakob disease is described, who neither showed characteristic EEG abnormalities nor a positive test of the neuronal protein 14-3-3 or neuron specific enolase (NSE) in CSF, despite a clinical presentation with ataxia of cerebellar type, rapidly progressive dementia, myoclonus, and marked hyperintense signal abnormalities in the deep cortical layers and the basal ganglia on T2 and diffusion weighted MRI. Moreover she showed atypical clinical features with a syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) and a peripheral sensorimotor polyneuropathy. Whether these disturbances are independent of Creutzfeldt-Jakob disease or a feature of it is discussed. It has recently been shown that in Creutzfeldt-Jakob disease different clinical and pathological phenotypes correlate with the polymorphism at codon 129 of the prion protein gene (PRNP) and the type of the protease resistant fragment that accumulates in the brain. According to the new classification at least six sporadic variants of Creutzfeldt-Jakob disease exist. The molecular genetic analysis showed heterozygosity of PRNP at codon 129 for methionine and valine and the presence of PrP(CJD) type 2 in the brain of this patient. As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region. In cases of rapidly progressive dementia, Creutzfeldt-Jakob disease always needs to be considered even if unusual features are present and current diagnostic criteria are not in favour of this disease.
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ranking = 1.0001104241909
keywords = neuropathy, deep
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4/109. Acute axonal polyneuropathy in chronic alcoholism and malnutrition.

    In contrast to the classic, slowly progressive polyneuropathy in alcoholic patients, acute forms, clinically mimicking guillain-barre syndrome, are rare. We present a patient who developed motor weakness and sensory loss in all four limbs within four days. Laboratory data were consistent with long-term alcohol abuse and documented thiamine deficiency. Repeated cerebrospinal fluid examinations were normal. Electrophysiological studies showed an acute sensorimotor polyneuropathy with predominantly axonal involvement. We conclude that acute alcoholic neuropathy has to be distinguished from guillain-barre syndrome and other forms of acute polyneuropathy by using clinical, laboratory, and electrophysiological data. Both ethanol toxicity and vitamin deficiency could play a role in the pathogenesis.
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ranking = 8
keywords = neuropathy
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5/109. Ataxic form of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).

    We reported a 64-year-old male with an eight-month history of gait disturbance and sensory impairment. The patient initially noticed unsteadiness of gait and numbness in his feet, and these symptoms progressed until he was unable to walk without assistance five months later. Vibratory sensation and position sense were markedly diminished, and deep tendon reflexes were absent in all extremities. Motor conduction velocities were slow with prolonged distal latencies, and sensory nerve action potentials (SNAP) were not elicited. sural nerve biopsy revealed a mild loss of myelinated fibres and segmental demyelination. cerebrospinal fluid showed normal cell count with protein 526 mg/dL. Anti-GM1, anti-GM2 and anti-GA1 antibodies in serum were positive. We diagnosed chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) presenting ataxia. Steroid therapy provided immediate improvement of symptoms and signs. This case suggests that CIDP should be considered as one of the potential causes of ataxic neuropathy.
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ranking = 6.0001104241909
keywords = neuropathy, deep
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6/109. Recessively inherited spastic paraplegia associated with ataxia, congenital cataracts, thin corpus callosum and axonal neuropathy.

    We investigated a consanguineous Japanese family with a complicated form of familial spastic paraplegia (FSP). Three siblings were affected, probably by autosomal recessive inheritance. All showed ataxia, subnormal mentality, congenital cataracts, and slight cerebellar atrophy on CT scans. Spastic paraplegia was predominant in 2 siblings, while ataxia was more marked in the other. Slight but definite atrophy of the corpus callosum and axonal neuropathy were demonstrated in 1 sibling who underwent detailed investigation. review of similar cases reported in the literature indicates that this recessively inherited disorder probably represents a homogeneous group within the heterogeneous cluster of complicated FSP.
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ranking = 5
keywords = neuropathy
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7/109. Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.

    A 48 year old woman with ataxia with vitamin e deficiency is described. Gene analysis identified two point mutations in exon 1 of the alpha-tocopherol transfer protein (alpha-TTP) gene, one missense mutation and an upstream initiation codon mutation in the 5'-untranslated region (Kozak sequence). The latter mutation is the first one identified in the translation regulatory region. This mutation decreased the level of alpha-TTP protein expression. The clinical features included uncommon urinary disturbance and deafness and relatively rare retinitis pigmentosa. Supplementary therapy increased her serum vitamin E concentration to the normal range with mild improvement of the deep senses.
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ranking = 0.00011042419092705
keywords = deep
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8/109. Successful immunosuppressant therapy of severe progressive cerebellar degeneration and sensory neuropathy: a case report.

    A 56 year old woman had a 19 month history of a severe subacute progressive cerebellar degeneration, peripheral sensory neuropathy, and urinary incontinence. She was confined to a wheelchair, needed assistance with eating, and her speech was almost unintelligible. No underlying cancer was found despite repeated investigations, and no autoantibodies were demonstrated. She received a 3-month course of intensive immunosuppressant therapy with intravenous immunoglobulin 400 mg/kg per day for 5 days every month, oral cyclophosphamide 50 mg twice or three times a day to maintain the total lymphocyte count between 500 and 750/mm(3), and prednisone 60 mg per day. She experienced dramatic subjective and objective improvement. The dysarthria and the upper extremity dysmetria disappeared, and she regained the ability to write and cook. The lower extremity ataxia improved and she became able to walk with a cane. urinary incontinence disappeared. A trial of intensive immunosuppressant treatment is worth considering in a patient with a clinical syndrome resembling paraneoplastic disorders, even if an underlying neoplasm and autoantibodies are not demonstrated.
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ranking = 5
keywords = neuropathy
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9/109. Sensory ataxic dominant neuropathy associated with polyarteritis nodosa.

    A 68-year-old man with sensory ataxic dominant neuropathy associated with polyarteritis nodosa (PAN) had deep sensory disturbance with unsteady gait and absence of the achilles tendon reflex. Examination revealed weight loss, elevated CRP level, negative antineutrophil cytoplasm antibodies, decreased M-wave amplitude in the peroneal motor nerve and absence of action potentials in the sural sensory nerve. sural nerve biopsy revealed a marked loss of myelinated fibers, myelin ovoid formation and necrotizing angiitis of large epineurial arterioles. Renal biopsy revealed global and/or segmental necrotizing angiitis in glomeruli, but not in the arcuate artery. These pathological findings were distinct from those of PAN, particularly microscopic polyangiitis (MPA). Treatment with a steroid improved the deep sensory disturbance, unsteady gait, and CRP level. This case is similar to ataxic neuropathy which can arise from various disorders. This is the first report of a case of sensory ataxic dominant neuropathy associated with MPA in PAN.
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ranking = 7.0002208483819
keywords = neuropathy, deep
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10/109. A case of spinocerebellar ataxia accompanied by severe involvement of the motor neuron system.

    We report a sporadic case of spinocerebellar ataxia accompanied by later but severe involvement of the motor neuron system. A 72-year-old man began to show ataxia and dysarthria at age 66 years. Neurological examinations revealed saccadic eye movement, slurred speech, truncal ataxia, pyramidal sign, and urinary disturbance. Neither history of alcoholism nor hereditary factors were found. He developed muscular atrophy of the lower and upper extremities and limb ataxia within three years. Superficial and deep sensations were diminished in both feet four years after onset. Thus, he presented with cerebellar ataxia, bulbar sign, upper and lower motor neuron symptoms, sensory disturbance, and autonomic sign after six years at age 72. The level of serum, creatine phosphokinase (CPK) was increased, and muscle biopsy showed marked neurogenic change. magnetic resonance imaging (MRI) revealed mild cerebellar and pontine atrophy. Although the combination of spinocerebellar ataxia and motor neuron disease is very rare, the present case suggests the inter-relation of the spinocerebellar and motor neuron systems, and presents peripheral neuropathy as a subtype of multisystem atrophy.
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ranking = 1.0001104241909
keywords = neuropathy, deep
(Clic here for more details about this article)
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