نتایج جستجو برای: oculogyric crisis
تعداد نتایج: 71362 فیلتر نتایج به سال:
This study presents the clinical findings on seven children from Malta (population 385,000). All of them had early motor delay and a significant degree of cognitive impairment. Diurnal variation of the motor impairments was clear in six out of seven of the subjects and oculogyric crises occurred from an early stage also in six out of the seven. Five out of seven had clear evidence of dystonia b...
INTRODUCTION Nuclei of oculogyric nerves (principal oculomotor nucleus, trochlear nucleus and abducens nucleus) are densely vascularized brainstem structures. The aim of this study was to determine quantitative characteristics of the vascular network of these nuclei. MATERIAL AND METHODS The study was done on 30 adult brainstems, both male and female, without diagnosed neurological disturbanc...
Twenty-two patients with Parkinsonism were treated with levoamphetamine and 12 of these with dextroamphetamine. Levoamphetamine resulted in a significant improvement in disability from Parkinsonism, although the reduction in total disability, tremor, akinesia, and rigidity scores was slight (ca 20 percent). Dextroamphetamine in lower dosage also reduced disability by some 17 percent. The most d...
A 30-year-old man with mild learning disability (IQ:72) and cerebral palsy with mild generalized choreoathetosis was referred with paroxysmal motor disorder and episodic depressive mood disorder. Aged 11 months, he had developed episodes of alternating flaccid hemiparesis followed by episodes when he was unable to move or talk but remaining conscious lasting from several minutes to longer. Epis...
A 26-year-old Malaysian woman (childbearing age) attended a private primary care clinic with known case of gastroesophageal reflux disease (GERD) and complained persistent nausea few episodes vomiting. She had no drug allergy, surgical history, hospitalization in the last two years, was non-smoker, history or alcohol abuse. The patient prescribed Tab metoclopramide 10 mg TDS ranitidine 150 BD f...
Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme. The clinical features of this condition include a combination of dopamine, noradrenaline, and serotonin deficiencies, and a patient may present with hypotonia, oculogyric crises, sweati...
We present the clinical, biochemical, and molecular findings of three Greek patients with tyrosine hydroxylase (TH) deficiency. All patients presented with a severe clinical phenotype characterized by prominent motor delay, infantile parkinsonism, oculogyric crises, and signs of autonomic dysfunction. Cerebrospinal fluid analysis disclosed reduced dopamine metabolites and normal pterins. Respon...
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