Cases reported "Ataxia"

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1/37. Hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses: a report on the first white patient.

    A white Italian boy, aged 5 years and 8 months, is reported with failure to thrive, hypotonia, truncal ataxia, psychomotor retardation, and congenital horizontal pendular nystagmus with only waves I and II on auditory brainstem responses. Our patient's clinical picture resembles that previously reported in 10 male Oriental patients. He did not manifest spastic diplegia by the age of 2 years, as did the subjects reported in the literature, but knee-jerk hyperreflexia was evident at the most recent clinical reevaluation. Serial brain MRI studies revealed a cystic brain lesion and peritrigonal hyperintensities with no brainstem abnormalities. To date, no other child with a similar syndrome has been described either in europe or in America. The clinical features of this condition are consistent and characteristic. A definitive diagnosis is achieved by demonstrating the absence of all waves following wave I or wave II on auditory brainstem responses as early as 3 months of age. Due to the predominance of males, the occurrence in siblings, the early age at onset, the non-progressive course, and the characteristic auditory brainstem response findings, the syndrome may have a genetic origin and be attributable to a dysgenetic brainstem lesion.
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2/37. A case of the subacute brainstem encephalitis.

    A case of brainstem encephalitis of undetermined etiology is reported in 66-year-old woman who had a sudden onset of illness with left abducens palsy, nystagmus and ataxia. The symptoms progressed to complete paralysis of eye movements, dysphagia and left hemiparesis with generalized hyperreflexia. Examination of CSF, CT scan and MRI of the brain were normal. The patient died 4 months after onset of disease. Neuropathologic study disclosed in the brainstem numerous perivascular and nodular inflammatory cell infiltrations composed predominantly of lymphocytes T and B. Most intensive inflammation concerned midbrain and pontine tegmentum and to a lesser degree medulla oblongata, pontine nuclei and cerebellar nuclei. basal ganglia, cerebral and cerebellar cortex were unaffected. Neuropathological finding was reminiscent of brainstem encephalitides related to viral infection or to paraneoplastic syndrome. However, HSV-1, EBV, and CMV antigens were not detected by immunohistochemistry, as well as evidences of malignancy were not present in this case.
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3/37. Spasticity due to phenytoin toxicity.

    A young epileptic presented with spasticity as well as ataxia, diplopia and nystagmus; his serum phenytoin level was very high. All the abnormal signs disappeared after withdrawal of phenytoin. Spasticity, hyperreflexia, and clonus are features of phenytoin intoxication, present in this case, which are not commonly seen, and which have rarely been mentioned previously in the literature.
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4/37. Medial medullary injury during adenoidectomy.

    We report medullary injury during adenoidectomy in two children who received injections of local anesthetic agents into the operative bed. Initial manifestations included hemiparesis, nystagmus, and ataxia. magnetic resonance imaging showed hemorrhagic, paramedian medullary lesions in both patients. The mechanism of injury is likely to be injection of fluid into the medulla.
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5/37. Oculopalatal tremor with tardive ataxia.

    Oculopalatal tremor consists of palatal tremor and pendular nystagmus and may develop in a delayed fashion after an acute brainstem lesion. Delayed sequelae are generally restricted to the eyes and branchial-derived muscles, such as those of the palate. We report three cases of oculopalatal tremor that subsequently developed disabling delayed-onset ataxia and emphasize the potential for this significant complication after larger bilateral acute brainstem lesions with sparing of the inferior olive.
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6/37. Wernicke's encephalopathy due to hyperemesis gravidarum: an under-recognised condition.

    We present a case of a 25-year-old woman with drowsiness, nystagmus, severe ataxia and areflexia, which developed six weeks after admission to an obstetric clinic for hyperemesis gravidarum. She had been treated with intravenous dextrose and electrolyte solutions and antiemetics. magnetic resonance imaging (MRI) performed on the fifth day of her neurologic symptoms showed increased intensity in both thalami, periaqueductal grey matter, the floor of the fourth ventricle and superior cerebellar vermis in T2 weighted and FLAIR images. Clinical signs and MRI findings were consistent with the diagnosis of Wernicke's encephalopathy. On the third day of thiamine replacement, neurologic signs improved dramatically In addition to our case, we review 29 previously reported cases of Wernicke's encephalopathy associated with hyperemesis gravidarum, and emphasize the importance of thiamine supplementation to women with prolonged vomiting in pregnancy especially if they are given intravenous or parenteral nutrition.
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7/37. Retinal dystrophy in a Japanese boy harboring the mitochondrial dna T8993G mutation.

    BACKGROUND: patients with the mitochondrial (mt) dna T8993G mutation reportedly have variable neurologic manifestations. In these patients, retinal dystrophies progress from salt-and-pepper appearance to severe diffuse pigmentary retinopathy. CASE: A Japanese boy harboring the mtDNA T8993G mutation had hypotonia, ataxia, and developmental delay. His lactate values in serum and cerebrospinal fluid were elevated. magnetic resonance imaging showed symmetrical areas of T2-weighted hyperintensity in the putamen and caudate. OBSERVATIONS: In ophthalmological examinations, his pupils reacted sluggishly to light. The patient had mottling of the retina without pigmentation and subnormal electroretinographic responses in both fundi. No ophthalmoparesis or nystagmus was observed. CONCLUSION: Retinal dystrophy without pigmentation was found in a Japanese boy diagnosed with the mtDNA T8993G mutation. This is believed to be the first report of retinal manifestations in Japanese patients with this mutation.
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8/37. Episodic ataxia type 2: an uncommon inherited CNS channelopathies.

    The author reports the first Thai patient with a rare inherited ataxic disorder characterized by intermittent episodes of ataxia, headache and vertigo. The patient was well between attacks despite persistent nystagmus on examination. magnetic resonance imaging of the brain revealed cerebellar atrophy. All symptoms were ameliorated by acetazolamide therapy. This clinical syndrome was previously described as acetazolamide-responsive episodic ataxia which was subsequently shown to be associated with mutations in a alpha1A-subunit of P/Q type voltage-gated calcium channel gene, known as 'episodic ataxia type 2'. Clinical and molecular aspects of episodic ataxia type 2 were also reviewed.
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9/37. Identification of a SACS gene missense mutation in ARSACS.

    The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).
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10/37. hearing loss and vertigo in superficial siderosis of the central nervous system.

    PURPOSE: Otoneurologic findings in patients with superficial siderosis (SS) of the central nervous system are described. A 20-year-old man with acute vertigo, dizziness, with a history of head trauma in childhood; an 87-year-old woman with severe disequilibrium appearing after peridural anesthesia; and a 55-year-old woman with recurrent episodes of positional vertigo and progressive ataxia, suffering from a lumbar ependymoma are described; all patients complained of progressive bilateral hearing loss and tinnitus.methods and results Otoneurologic examination showed bilateral sensorineural hearing loss, disturbed ocular pursuit and optokinetic nystagmus, incomplete visual suppression of the vestibulo-ocular reflex during rotatory pendular testing, right hyporeflexia, and bilateral caloric areflexia. Cerebral magnetic resonance imaging (MRI) revealed rims of hypointensity surrounding the brainstem and linear hypointensities following the surface of the cerebellar folia. CONCLUSIONS: The etiology stems from subarachnoid hemorrhage, but the source of bleeding may remain obscure. Bilateral hearing loss is described in 95% and disequilibrium in 90% because of peripheral vestibular deficit and cerebellar ataxia. In patients with progressive bilateral cochleo-vestibular deficit of unknown etiology, MRI is the examination of choice to confirm SS.
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