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Query: UMLS:C0033377 (prolapse)
 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a 55 years old man affected by eyelid ptosis, mild ophthalmoplegia externa and severe dysphagia owing to pharyngoesophageal dyskinesia. Skeletal and eyelid constrictor muscles EMG showed myogenic alterations. Muscle histological findings of ragged red fibers and oxidative histochemical alterations, together with ultrastructural investigation clue for mitochondrial myopathy diagnosis. This, considering the unusual clinical aspects of the case, confirms as mitochondrial disease can widely vary in their phenotypical expression.
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PMID:[Mitochondrial oculopharyngeal myopathy: description of a case]. 210 41

Oculomotor palsy secondary to a berry aneurysm is usually present with pupillary dilatation, followed by other signs of third cranial nerve dysfunction, including oculomotor paresis and ptosis. Partial paralysis of the nerve with pupil sparing has been observed, but ptosis as the sole sign of oculomotor paralysis has not previously been reported until now.
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PMID:Ptosis as the sole manifestation of compression of the oculomotor nerve by an aneurysm of the posterior communicating artery. 213 53

A 20-year-old woman presented with bilateral ptosis, total ophthalmoplegia, cerebellar symptoms, and hyporeflexia, indicating Fisher's syndrome. She had been diagnosed with infectious mononucleosis 2 months previously. Increased Epstein-Barr virus (EBV) titer was noted, and the Epstein-Barr virus-associated nuclear antigen (EBNA) became positive during the clinical course. Apparent light-near dissociation of the pupils was noted and accommodation was intact. During pharmacological tests with topical application to the eye by sympathomimetic or parasympathomimetic drugs, the pupils showed no supersensitivity, indicating possible central disorder. Enhanced ptosis was noted in each eye and this condition was aggravated by manually lifting the eyelids. The recovery latency time of this enhanced ptosis was approximately 180 ms, indicating a central polysynaptic process to possibly be the cause. Although this condition is considered specifically associated with peripheral neural or muscle diseases, the present case would indicate a central disorder as a possible mechanism.
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PMID:Enhanced ptosis in Fisher's syndrome after Epstein-Barr virus infection. 216 1

In this case report, we present a patient with severe ptosis without ophthalmoplegia due to porphyric neuropathy. This could be explained only by selective involvement of oculomotor nuclei.
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PMID:Severe ptosis without ophthalmoplegia due to porphyric neuropathy. 217 41

A 7-year-old girl with cytochrome c oxidase deficiency who had no neurologic deficits in infancy suddenly developed ophthalmoplegia, ptosis, and respiratory arrest. She recovered almost completely 80 days after onset, suggesting that acute onset and rapid remission are observed in patients with cytochrome c oxidase deficiency. It is also possible that early initiation of therapy in cytochrome c oxidase deficiency with coenzyme Q10 may hasten and enhance the therapeutic effect.
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PMID:Cytochrome c oxidase deficiency with acute onset and rapid recovery. 217 14

Rhinocerebral mucormycosis developed in two poorly controlled diabetic patients with clinical manifestations of frontal headache, ophthalmoplegia, ptosis, proptosis, epistaxis and facial numbness. Early computed tomography (CT) of the head revealed fluid accumulation in paranasal sinuses. The diagnosis of this disease relied upon CT of the head, and biopsy or culture of the mucosa of sinuses. Remarkable improvement was noted following prompt surgical debridement and amphotericin-B therapy. We conclude that early diagnosis and aggressive treatment is the only way to save patient's life.
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PMID:Rhinocerebral mucormycosis: report of two cases. 217 26

Among 189 consecutive cases with neuromyopathies, abnormalities of mitochondria in the muscles were seen in 5 cases. Ragged rad fibers (Rrf) were found with muscle biopsy with the use of staining of Gomory Trichrome. The ultrastructural abnormalities as revealed under the electron microscope in the mitochondria were as follows: 1. the mitochondria contained a lot of paracrystalline inclusion; 2. they were composed of lamellae; and 3., the mitochondria also showed dense spherical inclusions with abundant glycogen-rich sarcoplasm. The clinical manifestations of these patients consisted of: 1. muscular atrophy of various degrees. 2. muscular weakness of the proximal parts of the limbs, and 3. ptosis and ophthalmoplegia (in three cases). Three of the patients were treated with coenzyme Q10 with improvement of some of the symptoms and signs.
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PMID:[A clinical, histochemical and ultrastructural study of mitochondrial myopathy]. 217 86

Renal tubular acidosis and tetany were the 1st manifestations of Kearns-Sayre syndrome in a 5-year-old child. Subsequently, he developed progressive external ophthalmoplegia, ptosis, retinopathy, heart block, and endocrinopathy. There was a 7.5-kb deletion of mitochondrial DNA documented in muscle, kidney, skin fibroblasts, and leukocytes, providing evidence for a multisystem mitochondrial cytopathy.
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PMID:Kearns-Sayre syndrome presenting as renal tubular acidosis. 223 34

An 11-month-old female infant with mild asphyxia at birth had severe generalized muscle hypotonia and weakness, predominantly in the neck flexors, a high-arched palate and a funnel chest from early infancy. Her facial muscles were also markedly involved. In addition, she showed striking non-progressive, complete external ophthalmoplegia and mild ptosis. A muscle biopsy specimen showed non-specific myopathic changes, including mild variation in fiber size, mild type 1 fiber predominance, type 2B fiber deficiency and slightly increased acid phosphatase activity. Complete ophthalmoplegia may thus be seen not only in myotubular myopathy but also in various forms of congenital non-progressive myopathy.
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PMID:Complete external ophthalmoplegia in a patient with congenital myopathy without specific features (minimal change myopathy). 224 Apr 64

A fifth case of oculomasticatory myorhythmia associated with cerebral Whipple's disease is reported. This peculiar abnormal movement has never been described in association with cerebral dysfunction other than Whipple's disease. The present case exhibited rhythmic convergence of the eyes and synchronous (1-2 Hz) contractions of the masticatory muscles and of the proximal and distal skeletal muscles. These abnormal movements occurred 13 years after the beginning of the disease. They were persistent and unchanged until the death of the patient 3 months later. No treatment was effective to suppress the involuntary movements (clonazepam, baclofen, antibiotics). Associated neurological signs included global supranuclear ophthalmoplegia, facial weakness, bilateral ptosis, absent gag reflex, and intellectual deterioration.
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PMID:Oculo-facio-skeletal myorhythmia as a cerebral complication of systemic Whipple's disease. 246 61


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