Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
نویسندگان
چکیده
منابع مشابه
Late diagnosis of congenital cardiovascular defect.
Coarctation of the aorta (CoA) is a common congenital anomaly that is usually treated in infancy or childhood. Adult patients with coarctation have a high incidence of associated cardiac disorders, including valve diseases, atrial fibrillation and ischemic heart disease. Most patients with uncorrected CoA die before reaching the age of 50 from complications such as myocardial infarction, intrac...
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Congenital abnormalities of the anus are easily detected. Nevertheless the diagnosis is sometimes missed, with serious consequences for the child. Between 1970 and the end of 1977, 11 children with minor congenital anal abnormalities, in whom the diagnosis was initially missed, were seen on one surgical firm at this hospital (Table 1). After diagnosis and initial treatment intravenous urography...
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CASE REPORT A 56 year old woman with atrial myxoma presented with a visual acuity of no light perception after acute ophthalmic artery obstruction (OAO) associated with stroke. She developed late retinal pigmentary changes due choroidal infarction, typical of the OAO. DISCUSSION Simultaneous obstruction of the retinal and choroidal circulation was observed in the OAO. Atrial myxoma should be ...
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This is a retrospective review of congenital cholesteatoma cases that were managed surgically. There were 5 cases. The age of presentation ranged from 5 to 18 year old. Three patients presented with complication of the disease. Three patients had intact tympanic membrane, two had perforation at the anterior superior quadrant. All patients had cholesteatoma medial to tympanic membrane. Four case...
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A 68-year-old female with no significant past medical history presented with loss of vision in the lower half of her left eye that lasted <5 minutes. No abnormalities were found on ocular or physical exam. Computed tomography angiography and carotid ultrasound were performed, which confirmed the diagnosis as amaurosis fugax with two abnormalities leading to the transient retinal vessel occlusio...
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ژورنال
عنوان ژورنال: Neuromuscular Disorders
سال: 2015
ISSN: 0960-8966
DOI: 10.1016/j.nmd.2014.11.017