Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Refsum's disease is a polyneuropathy due to a hereditary error in the metabolism of a fatty acid, phytanic acid, usually leading to cardiac failure only at an advanced stage of the disease. The authors report the case of two brothers with Refsum's disease revealed by a heart failure before the clinical stage of the peripheral neuropathy. In the younger brother, the affection started at the age of 22 years by an acute pulmonary oedema which revealed a dilated, hypokinetic myocardiopathy, associated with retinitis pigmentosa, ptosis, anosmia and biological myolysis. The normal plasma concentration of phytanic acid measured several times led to the conclusion of Kearns-Sayre syndrome even if certain aspects were atypical (moderate conduction disorders, no characteristic aspect in the muscle biopsy). Five years later, the older brother, aged 28, presents a dyspnea on effort which leads to the discovery of a hypokinetic, hypertrophic myocardiopathy, slightly dilated, associated with cardiac conduction disorders, retinitis pigmentosa, anosmia and biological myolysis. The plasma concentration of phytanic acid being very high. Refsum's disease was diagnosed and the diagnosis of younger brother was corrected. From the study of these two cases, the characteristics of the cardiac disorders can be specified: the cardiopathy can reveal the disease and correspond to a dilated or hypertrophic myocardiopathy. The diagnosis of the disease can be difficult because the plasma phytanic acid may remain at normal level, thus requiring the assay of the activity of phytanate oxydase. The existence of ophthalmologic signs (retinitis pigmentosa or progressive ophthalmoplegia externa) associated with a myocardiopathy must systematically lead to a search for Refsum's disease, this diagnosis having fundamental therapeutic implications (died, even plasmapheresis).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Refsum's disease. Apropos of 2 cases disclosed by myocardiopathy]. 169 53

We reported a case of Kearns-Sayre syndrome with impaired respiratory regulation. A 55-year-old male was admitted to our hospital complaining of chronic progressive external ophthalmoplegia, limb muscle weakness and dyspnea. On admission, because arterial blood gas analysis showed marked alveolar hypoventilation, ventilatory response was measured and diminished chemosensitivity to both hypoxia and hypercapnia was found. His vital capacity and forced expiratory volume in 1 second were slightly decreased, and a chest X-ray film revealed a moderate degree of elevation of the bilateral diaphragm. Therefore, we considered that the diminished response to hypoxia and hypercapnia in this case was caused by an impairment of the respiratory center, as well as chemoreceptors and also the presence of respiratory muscular weakness.
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PMID:[A case of Kearns-Sayre syndrome with impaired respiratory regulation]. 175 13

One male and two female cases in a family of Machado-Joseph disease were reported. Two cases showed typical symptoms that are characterized by bulging eyes, ophthalmoplegia, dystonia, ataxia, spasticity of extremities and amyotrophy, and were consistent with Type II (Rosenberg et al). But another one lacked diversity of the symptoms, showing mainly progressive cerebellar ataxia for over 10 years. We pointed out the existence of a new type of MJD case exhibiting only progressive cerebellar ataxia over a long period. A female patient had dyspnea and insomnia after 20 years in her clinical course, and central sleep apnea was revealed by respiratory monitor. But, the apnea and irregular respiration appeared in both awake and sleep stages. We described the importance of attention to the apnea as a new complication of Machado-Joseph disease.
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PMID:[A family of Machado-Joseph disease with a patient having frequent apnea in all day]. 191 27

A 24-year-old pregnant woman started to have hyperemesis gravidarum 6 weeks before admission. Four weeks later she had vertigo, diplopia, staggering gait, mild dyspnea, dysphagia, and incontinence of urine. On admission she presented with ophthalmoplegia, ptosis, ataxia, decreased tendon reflex, and memory disturbance. Brain magnetic resonance imaging revealed abnormal intensities in medial thalamic-hypothalamic regions and the periaqueductal area, and she was diagnosed with Wernicke's encephalopathy. Urodynamic studies revealed decreased bladder volume and detrusor hyperreflexia. Six weeks after the administration of 100 mg/day of thiamine, urge incontinence gradually recovered, together with neurological signs. Lesions of the medial thalamic-hypothalamic area and the periaqueductal gray matter seemed to be mainly responsible for micturitional disturbance in our patient with Wernicke's encephalopathy.
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PMID:Micturitional disturbance in Wernicke's encephalopathy. 904 73

We report a patient with motor neuron syndrome similar to amyotrophic lateral sclerosis (ALS) and with spontaneous recovery. At the age 40, the woman developed progressive muscular weakness, atrophy and fasciculation in extremities. She also noted a dyspnea, tongue atrophy and dysphagia. A neurological examination 6 months after onset revealed i) a tongue atrophy and fasciculation, ii) diffuse muscule weakness and atrophy in face, neck and extremities, and iii) marked hyperreflexia in the four limbs and bilateral Babinski reflex, but iv) neither sensory disturbance nor ophthalmoplegia. Electromyogram (EMG) detected such denervation potentials as fibrillation potentials, fasciculation potentials, positive sharp waves and polyphasic or giant MUPs diffusely in the limb muscles. Peripheral nerve conduction study detected neither conduction block nor delay. Thus, she was diagnosed as suffering from ALS. However, since approximate 1 year after onset, her muscle weakness has gradually been getting better. Simultaneously, the dyspnea and dysphagia gradually improved. Two years after onset, an EMG examination detected chronic denervation potentials in the left musculus sternocleidomastoideus and a few on-going denervation potentials in the left musculus extensor carpi radialis, but no denervation potentials in other limb muscles. Fasciculation potentials were found in tongue muscles. Thus, the present case was thought to have a reversible motor neuron syndrome clinically quite similar to ALS. A mild increase in IgE (346 U/ml) and a low-titer IgM-class anti-GM1 antibody were found in her serum though its pathological significance was uncertain. Any immunological aberrance may account for the pathogenesis. It should be noted that clinically diagnosed cases of ALS may rarely recover spontaneously.
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PMID:[A patient with motor neuron syndrome clinically similar to amyotrophic lateral sclerosis, presenting spontaneous recovery]. 1133 88

Sarcoidosis is a multisystemic granulomatous disease of unknown etiology which affects most frequently the hilar lymph nodes and lungs. Symptomatic involvement of the central nervous system may develop in patients diagnosed with sarcoidosis or it may be the initial manifestation of the disease. This is a case report of 48-year old female patient admitted to our clinic for evaluation of working ability. The patient had a total of 24 years of service and occupational exposure and she has been employed as supplies procurement officer. On admission, she complained of the following discomforts: eye-lid pain, intellectual fatigue, psychic uneasiness, forgetfulness, dyspnea and productive cough. Neurological findings indicated the presence of the right eye ophthalmoplegia, psychoorganic syndrome and neurosarcoidosis. Ophthalmological examination evidenced bilateral ptosis and presence of anisocoria. Magnetic resonance imaging revealed discrete focal lesions of the pons (paracentral left) and parietal corona radiata of the left hemisphere. Based on performed examinations and diagnostics procedures, final evaluation of patient's working ability concluded that the patient was not capable of psychic strains and jobs associated with material accountability.
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PMID:[Work ability evaluation in neurosarcoidosis--a case report]. 1697 13

Although linked with cardiac dysfunction, the association of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) and pulmonary artery hypertension (PAH) has not been previously described. PAH and right ventricular heart failure were identified by echocardiography in a 3-year-old boy with a history of hypotonia, microcephaly and developmental delay. He initially presented with a 10-day history of dyspnoea, dependent oedema and reduced oral intake. Lactic acidosis was noted on serial arterial blood sampling and cerebrospinal fluid. Muscle biopsy demonstrated cytochrome-c oxidase-positive 'ragged-red' fibres consistent with MELAS; subsequent analyses revealed the m.3243A>G point mutation most commonly associated with MELAS. The mutation was heteroplasmic, representing 92% of the total mtDNA from a lung sample. Nitric oxide and epoprostenol were administered without significant clinical or echocardiographic improvement of his PAH. A 'mitochondrial cocktail' including biotin, riboflavin, carnitine and coenzyme Q10 also was provided. Five months after presentation, he developed seizures; MRI imaging of his brain demonstrated multiple focal lesions. His clinical status worsened with increasing cardiopulmonary failure. He died two months later. Although therapy for both MELAS and PAH remains limited, recent investigations suggest a beneficial role for l-arginine in both conditions, implying a possible common pathophysiology. Mitochondrial diseases such as MELAS should be considered in cases of idiopathic PAH, particularly when associated with multisystem involvement including short stature, hearing loss, renal dysfunction, retinopathy, diabetes mellitus, migraines, seizures, ophthalmoplegia, fatigability and weakness.
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PMID:Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G). 1818 Oct 29

Exercise intolerance is a common finding in mitochondrial diseases, including Kearns-Sayre syndrome (KSS), characterised by progressive external ophthalmoplegia, cardiac conduction defects and atypical pigmentary degeneration of the retina. Exercise studies were performed in a 32 year old woman with KSS who had received an atrio-ventricular sequential pacemaker because of continuing breathlessness, having presented with complete heart block requiring a fixed rate demand pacemaker 6 years earlier. Minute ventilation, oxygen consumption, and carbon dioxide production were measured at different workloads on 3 consecutive days by collecting expired air. Compared to controls, after exercise at a subanaerobic workload, heart rate and ventilation were exaggerated relative to both oxygen consumption and carbon dioxide production. The findings are consistent with the hypothesis that, in mitochondrial disorders, impaired oxidative phosphorylation leads to uncoupling of cardiac ouput and ventilation relative to muscle metabolic rate.
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PMID:Exercise intolerance in Kearns-Sayre syndrome. 1863 8

A 10-year-old boy with unilateral ophthalmoplegia, ptosis, and proptosis underwent diagnostic examination. Symptoms of headache, nausea, dyspnea, fatigue, weakness, and loss of appetite began 14 days after the onset of ocular manifestations and 7 days before he was examined. Complete blood count showed an increased white blood cell count with 64% blast cells, anemia, and thrombocytopenia. The patient was transferred to a pediatric hematology unit, where he underwent bone marrow aspiration biopsy. Bilateral ocular inflammatory findings and left-sided mild proptosis became evident. He was diagnosed as having B-cell non-Hodgkin lymphoma infiltrating the bilateral cavernous and sphenoid sinuses.
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PMID:Cavernous sinus syndrome as the initial presentation of childhood non-hodgkin lymphoma. 1964 4

The first overall clinical description of envenomings by the lowland populations of the Balkan adder (Vipera berus bosniensis) is provided by this study. Fifty-four incidents have been collected retrospectively from the south-western Hungarian and the northern Croatian distribution area of the taxon. There were five (9%) asymptomatic, 24 (44%) mild, 12 (22%) moderate, 12 (22%) severe, and one fatal (2%) case according to the Poisoning Severity Score. The single death is a 60-year-old Hungarian case that was caused by V.b. bosniensis. Average hospitalisation was 2.75 days. The most common systemic symptoms were gastrointestinal disorders, ECG changes, persisting hypotension and neurological disorders. The initial phase of neurotoxic manifestations was always expressed in cranial nerve disturbances: ptosis, external ophthalmoplegia, diplopia, reduced focusing capability and blurred vision. Neuromuscular paralysis progressed to dyspnoea and lower limb paralysis in the most severe cases. Unusual symptoms were fluctuating arterial hypertension, drowsiness, and hypokalaemia. Laboratory results reveal leucocytosis, while deviation in the other laboratory values is not common. Envenomings by V.b. bosniensis significantly differ from those by the European adder (Vipera berus berus) in lower manifestation rate of extensive oedema, anaemia, CNS depression, and haematuria but the development of neuromuscular paralysis is high (20%). Their bites rather resulted in mild and moderate local symptoms in envenomed patients than those inflicted by the nominate form. This study presents the evidence of the frequent neurotoxic manifestations in Balkan adder-bitten patients for the first time, which strongly suggests that the venom of the lowland populations of V.b. bosniensis has neurotoxic activity.
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PMID:First clinical experiences about the neurotoxic envenomings inflicted by lowland populations of the Balkan adder, Vipera berus bosniensis. 2114 53


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