Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 7-year-old boy presented with bilateral ptosis and atypical retinitis pigmentosa. Before age two, he had had an Fe-refractory anemia, with neutropenia and thrombopenia. Just prior to the ophthalmic examination, the patient developed lactate acidosis, muscular hypotonia, ataxia and increased protein in the spinal fluid. Pancytopenia, pancreas dysfunction and growth retardation are the main features of Pearson's syndrome, most children not surviving beyond age three. The cause of Pearson's syndrome in our patient turned out to be a 5 kb deletion in the mitochondrial DNA. Similar deletions have been described in the Kearns-Sayre syndrome. It seems that children who survive the initial phase of Pearson's syndrome, may develop Kearns-Sayre syndrome.
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PMID:Kearns-Sayre's syndrome developing in a boy who survived pearson's syndrome caused by mitochondrial DNA deletion. 130 30

A 25-year-old quadriplegic man with mitral leaflet prolapse syndrome was seen for complaints of intermittent fever, chills, and cough of three months' duration. Subacute bacterial endocarditis was diagnosed. Unusual complications of this disorder included hyperplenism with pancytopenia, pericardial effusion, and multiple infections in the blood and the spleen. Antibiotic therapy was begun, and splenectomy was performed. After seven weeks of treatment, the patient was free of symptoms and was discharged with advice on appropriate antibiotic prophylaxis. We believe that although bacterial endocarditis is a major complication of mitral leaflet prolapse syndrome, it can be prevented with antibiotic prophylaxis whenever dental, surgical, or other invasive procedures are performed.
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PMID:Bacterial endocarditis in mitral leaflet prolapse syndrome. 707 Oct 31

A 48-year-old man was admitted to our hospital due to multiple cranial neuropathy such as vertigo, hearing loss of the left ear, visual loss of the left eye, left ptosis and total ophthalmoplegia of the left eye. Brain MRI revealed no abnormalities. After 10 days, he suddenly showed hemophagocytic syndrome with high fever, liver dysfunction, jaundice and pancytopenia. In spite of the treatment, he died of multiple organ failure after 26 days. At autopsy, malignant lymphoma cells of T cell origin directly invaded into the liver, spleen, intraperitoneal lymph nodes and other organs. Reports that direct invasion of lymphoma cells could be detected at the cranial nerves in the cavernous sinus are very rare.
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PMID:[An autopsy case of malignant lymphoma who showed hearing loss and cavernous sinus syndrome in the first stage and hemophagocytic syndrome]. 1082 98

Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from approximately 7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown.
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PMID:Jacobsen syndrome. 1926 33

A 69-year-old woman developed ptosis and diplopia due to an isolated pupil-involving left oculomotor nerve palsy. General examination was unremarkable. Initial workup showed a mild increase in cerebrospinal fluid proteins. Imaging studies were remarkable for a left oculomotor nerve enhancement in brain MRI and hyperfixation along the nerve's pathway in full body single-photon emission CT. Assuming the possible diagnosis of neurosarcoidosis, the patient was started on high-dose methylprednisolone. Three months later she developed pancytopenia. A bone marrow biopsy was performed and histopathology revealed infiltration by Hodgkin's lymphoma. Adriamycin, bleomycin, vinblastine, dacarbazine protocol chemotherapy was started and full haematological remission obtained after four cycles, despite mild oculomotor nerve palsy persisted. Isolated oculomotor palsy as the first presenting manifestation of a lymphoma is rare and alternative differential diagnosis must be considered in the absence of other lymphoma manifestations. In this case as with many rare initial manifestations of common diseases watchful waiting was crucial to the correct diagnosis and treatment strategy.
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PMID:Isolated III cranial nerve palsy: a Hodgkin's lymphoma? 2475 7

A 45-year-old man was admitted to our hospital because of taste disorders in March 2014. He exhibited cervical muscle weakness and left eye ptosis, which responded to Tensilon test, and was diagnosed with myasthenia gravis (MG). He developed aspiration pneumonia and myasthenic crisis, which was treated with intravenous immunoglobulin and steroid pulse therapy. All symptoms disappeared. Oral administration of prednisolone and tacrolimus was started. Chest CT revealed thymoma and extended thymectomy was performed in May 2014. In December 2014, seven months after the thymectomy, hematological examination showed pancytopenia including severe neutropenia. We diagnosed his illness as aplastic anemia (AA). Cyclosporine therapy with transfusion was administerd and led to reticulocyte count recovery. Since May 2015, hemoglobin recovery reached a blood transfusion free period. To our knowledge, this is the first case report with the patient supposed of relationship among taste disorders, AA and thymoma-associated MG.
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PMID:[A case of myasthenia gravis with transient taste disorders followed by aplastic anemia after thymectomy]. 2687 9