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)

Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis. We report a 27-year-old woman who presented with partial seizure, stroke-like episodes including hemiparesis, hemianopia and hemihypethesia, sensorineural hearing loss, migraine-like headache, and lactic acidosis. Brain computed tomographic scan showed encephalomalacia in the right parieto-occipital area and recent hypodensity in the left temporoparieto-occipital area with cortical atrophy. Muscle biopsy revealed ragged-red fibers and paracrystaline inclusions in the mitochondria. Genetic study revealed an A to G point mutation at nucleotide position (np) 3243 of mitochondrial DNA. External ophthalmoplegia and ptosis were also found during two exaggerated episodes in this patient. Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case. Furthermore, we also found carnitine deficiency in this patient and she was responsive well to steroid therapy. Muscle biopsy also revealed excessive lipid droplets deposits. Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243. We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency.
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PMID:CPEO and carnitine deficiency overlapping in MELAS syndrome. 748 81

Orbital cellulitis is rare. However the high risk of severe ocular and neurological complications make early diagnosis and adequate therapy essential. The purpose of this retrospective study is to describe 33 cases observed in the pediatric infectious disease department of the Casablanca Children's Hospital in Morocco from 1994 to 2000. Orbital cellulitis was preseptal in 24 patients and retroseptal in 9. Infection occurred in relation with sinusitis in 10 cases, polydermitis in 8, wound infection in 6, ocular infection in 2, and dental abscess in 2. Ages ranged from 40 days to 15 years with a mean age of 5 years. Infants accounted for 25% of cases and always presented preseptal cellulitis. Fever and local edema were noted in all patients. Exophthalmia occurred in six patients and seizures in 2. The 9 cases of retroseptal cellulitis were complicated by empyema in 2 cases, meningitis in 1 case and thrombophlebitis of cavernous sinus with cerebromalacia in 1 case. Bacteriological testing identified micro-organisms in 10 cases, i.e., Staphylococcus aureus in 6 cases, Streptococcus B in 1, Streptococcus pyogenes in 1, Enterobacter Cloacae in land Acinitobacter jejuni in 1 case. Therapy was based on broad-spectrum antibiotics in association with surgery in the patient presenting in intracranial abscess. Ophthalmoplegia-like sequels including blindness, aphasia, and motor deficit occurred in 2 patients. Orbital cellulitis in children are usually preseptal and have a favorable prognosis. However prompt and adequate antibiotherapy is essential due to the risk of retroseptal involvement with inflammatory palpberal edema and possible cerebral extension.
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PMID:[Orbital cellulitis in children: a retrospective study of 33]. 1561 87