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)

A case of Whipple's disease with central nervous system (CNS) involvement has been retrospectively diagnosed. At the age of 50 and after six years of recurrent bouts of pyrexia, anorexia and loss of weight, a man developed a subacute encephalitis. Two episodes of acute loss of vision were followed by changes in mental status, supranuclear ophthalmoplegia and oculo-facio-cervical myorhythmias which remained present until death, one year later. Combined light- and electron microscopic studies have demonstrated: No. 1 the presence in the CNS of nodules containing large amounts of Sieracki cells; No. 2 the existence of bacteria in various stages of degeneration in macrophages or in the neuropile. A review of CNS complications in Whipple's disease is made.
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PMID:Cerebral manifestations of Whipple's disease. 9 79

Many reports of diabetic ophthalmoplegia have been published from the clinical points of view. However, there have been only three autopsied cases in which the ocular nerves were investigated histopathologically. A 72-year-old housewife was diagnosed to have glycosuria at the age of 67, but no medical treatment was done. She admitted to the hospital, because of acute onset of right eyelid drooping and diplopia for previous four days. She showed complete eyelid ptosis, moderate dilatation of right pupil, loss of light reaction, and extraocular muscle palsy except abduction on the right. Blood pressure was normal. A glucose tolerance test was diabetic and HbA1c was moderately increased. Her diabetes was fairly well-controlled with a diet therapy and injection of lente insulin. Two and a half months after admission, the course of illness became regressive. Seven months later, external ophthalmoplegia was disappeared and only slight anisocoria was seen. She readmitted to the hospital one year and eleven months later, because of anorexia and emaciation. She died of adenocarcinoma of the stomach without chemotherapy. The duration from onset of ocular symptoms to death was two years and one month. At postmortem examination, stomach cancer infiltrated extensively to the abdominal and pelvic viscera, but no metastasis to the nervous system or intraorbital tissues was found. There were mild to moderate atherosclerotic changes in the small-and middle-sized arteries of the kidneys, pancreas and adrenal glands corresponding to her age. Moderate atherosclerosis was found in all of the major arteries including Willis ring, siphon of the right internal carotid artery and Vertebro-basilar one.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Diabetic ophthalmoplegia--a clinico-pathological study of the first case in Japan]. 269 31

Whipple's disease is a rare chronic multi-systemic infectious disorder caused by the Gram-positive bacillus, Tropheryma whippelii. Infection may involve any organ in the body, and most commonly affects white men in the fourth to sixth decades of life. The most common presenting symptoms are gastrointestinal and include abdominal pain, diarrhoea, anorexia and associated weight loss. However, the variability in presentation is considerable and some patients may present with intermittent low-grade fever, neurological abnormalities (nystagmus, ophthalmoplegia, cranial nerve defects), migratory arthralgia, lymphadenopathy, or involvement of the cardiovascular system. In typical Whipple's disease, the most severe changes are seen in the proximal small intestine and biopsy reveals mucosal and lymph node infiltration with large, foamy histocytes, containing granules that stain positive with periodic acid-Schiff (PAS) reagent and represent intact or partially degraded bacteria. Extended antibiotic treatment (up to 1-year) is indicated. Life-long surveillance for recurrence is essential, once primary treatment has been completed. We report the case of a 58-year-old man who developed a rare infection with the actinobacterium, T. whippelii. The patient had suffered intermittent episodes of varying clinical symptoms associated with multiple hospital admissions and clinical diagnoses, spanning a period of 22 years. Historically, arthralgia was the primary manifestation in this patient and also was the chief complaint for which he was first hospitalized 22 years ago. At his most recent admission to our hospital department, his presenting symptoms were persistent fatigue, weight loss, arthralgia and diarrhoea. Thus, it is essential that clinicians retain a high index of suspicion for T. whippelii infection in patients who have a long-term history of arthritis, fever and diarrhoea.
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PMID:Whipple's disease: multiple hospital admissions of a man with diarrhoea, fever and arthralgia. 1603 47

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

We report our findings for a patient with orbital apex syndrome associated with herpes zoster ophthalmicus. Our patient was initially admitted to a neighborhood hospital because of nausea and loss of appetite of 10 days' duration. The day after hospitalization, she developed skin vesicles along the first division of the trigeminal nerve, with severe lid swelling and conjunctival injection. On suspicion of meningoencephalitis caused by varicella zoster virus, antiviral therapy with vidarabine and betamethasone was started. Seventeen days later, complete ptosis and ophthalmoplegia developed in the right eye. The light reflex in the right eye was absent and anisocoria was present, with the right pupil larger than the left. Fat-suppressed enhanced T1-weighted magnetic resonance images showed high intensity areas in the muscle cone, cavernous sinus, and orbital optic nerve sheath. Our patient was diagnosed with orbital apex syndrome, and because of skin vesicles in the first division of the trigeminal nerve, the orbital apex syndrome was considered to be caused by herpes zoster ophthalmicus. After the patient was transferred to our hospital, prednisolone 60 mg and vidarabine antiviral therapy was started, and fever and headaches disappeared five days later. The ophthalmoplegia and optic neuritis, but not the anisocoria, gradually resolved during tapering of oral therapy. From the clinical findings and course, the cause of the orbital apex syndrome was most likely invasion of the orbital apex and cavernous sinus by the herpes virus through the trigeminal nerve ganglia.
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PMID:Orbital apex syndrome associated with herpes zoster ophthalmicus. 2214 Mar 5

Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal-recessive syndrome, resulting from mutations in the TYMP gene, located at 22q13. The mutation induces a thymidine phosphorylase (TP) deficit, which leads to a nucleotide pool imbalance and to instability of the mitochondrial DNA. The clinical picture regroups gastrointestinal dysmotility, cachexia, ptosis, ophthalmoplegia, peripheral neuropathy, and asymptomatic leukoencephalopathy. The prognosis is unfavorable. We present the case of a 14-year-old Caucasian female whose symptoms started in early childhood. The diagnosis was suspected after magnetic resonance imaging (MRI), performed given the atypical features of mental anorexia, which revealed white matter abnormalities. She presented chronic vomiting, postprandial abdominal pain, and problems gaining weight accompanied by cachexia. This diagnosis led to establishing proper care, in particular an enteral and parenteral nutrition program. There is no known specific effective treatment, but numerous studies are in progress. In this article, after reviewing the existing studies, we discuss the main diagnostic and therapeutic aspects of the disease. We argue for the necessity of performing a cerebral MRI given the atypical features of a patient with suspected mental anorexia (or when the clinical pattern of a patient with mental anorexia seems atypical), so that MNGIE can be ruled out.
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PMID:[Mitochondrial neurogastrointestinal encephalopathy disease]. 2528 63

An otherwise healthy 30-year-old male acquired gastrointestinal beriberi and subsequent Wernicke's encephalopathy after 1 session of heavy drinking. Nausea, vomiting, and anorexia relentlessly progressed. The patient developed external ophthalmoplegia after 2 months. Intravenous 1,000 mg thiamine reversed both neurologic and gastrointestinal symptoms within hours. It is hard to diagnose gastrointestinal beriberi since the symptoms are nonspecific. The patient underwent 11 emergency room visits, 3 hospital admissions, and laparoscopic cystectomy within 2 months, but the gastrointestinal symptoms continued to progress. Two months after the onset of gastrointestinal symptoms, external ophthalmoplegia appeared, and, therefore, intravenous thiamine was given. The simultaneous resolution of the debilitating gastrointestinal symptoms and external ophthalmoplegia was unique. Thiamine deficiency remains underdiagnosed and should be considered in patients who develop unexplained gastroparesis or autonomic nervous failure of the digestive system, even in the nonalcoholic population.
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PMID:Gastrointestinal Beriberi and Wernicke's Encephalopathy Triggered by One Session of Heavy Drinking. 3154 93