Cases reported "Optic Atrophy"

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1/37. Diaphragma sellae metastasis from colon carcinoma mimicking a meningioma. A case report.

    We describe a rare case of metastatic intra-suprasellar adenocarcinoma from colonic cancer mimicking a meningioma of the "diaphragma sellae". autopsy studies indicate breast and lung carcinoma to be the most frequent primary tumor metastasizing this site, particularly in patients with systemic spread. While diabetes insipidus is reported to be one of the commonest symptoms in these cases, the only clinical manifestation of the tumor in our patient was a bitemporal hemianopia, while the primary tumor remained asymptomatic. In the available literature are reported only two pituitary metastasis from operated colon carcinoma. In both cases the diagnosis of the colon cancer preceded the pituitary operation. The clinico-pathological and neuroradiological aspects of this unusual lesion are analyzed in the light of the relevant literature on the topic focusing on recent MRI acquisitions.
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ranking = 1
keywords = diabetes insipidus, insipidus, diabetes
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2/37. Bilateral optic atrophy following diabetic ketoacidosis.

    diabetic ketoacidosis (DKA) can result in neuropathic abnormalities of the somatic and the autonomous nervous systems. We report the case of a 50-year-old man with Type 1 diabetes of 20-year duration who after severe DKA lost vision in his right eye and only retain partial vision in his left. This case demonstrates that optic neural tissue is vulnerable to haemodynamic and metabolic complications of DKA.
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ranking = 0.027583631365819
keywords = diabetes
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3/37. A DIDMOAD syndrome family with juvenile glaucoma and myopia findings.

    We present here two DIDMOAD syndrome cases (diabetes mellitus, diabetes insipidus, optic atrophy, deafness) in a Turkish family. In the examination of the propositus who had consanguineous parents, diabetes mellitus, diabetes insipidus, optic atrophy, and deafness were observed in addition to myopia, juvenile glaucoma, posterior polar cataract, and dilatation of the urinary tract. diabetes mellitus, diabetes inspidus, optic atrophy, deafness, myopia, and ventricular septal defect were observed in his elder brother. Juvenile onset diabetes mellitus, congenital glaucoma, deafness, and heart disease were the other remarkable findings observed in relatives to this family. Juvenile glaucoma, posterior polar cataract observed in our propositus, and myopia in both our DIDMOAD syndrome cases are the first ophthalmic manifestations described in the DIDMOAD syndrome.
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ranking = 1.0827508940975
keywords = diabetes insipidus, insipidus, diabetes
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4/37. kidney transplantation unraveling wolfram syndrome: a case report.

    BACKGROUND: In wolfram syndrome insulin-dependent diabetes is associated with a multisystem neurodegenerative disorder. There are no prior reports of kidney transplantation in patients with wolfram syndrome. methods: kidney transplantation was undertaken in a child with dysplastic kidneys, sensorineural hearing impairment and bilateral optic atrophy-a combination of features insufficient to define wolfram syndrome. RESULTS: After the procedure diabetes mellitus, diabetes insipidus and urinary bladder dysfunction emerged, thereby revealing wolfram syndrome. CONCLUSIONS: We discuss the etiology of our patient's postoperative events, and conclude that kidney transplantation may expose dormant manifestations-or aggravate existing manifestations-of wolfram syndrome.
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ranking = 1.0551672627316
keywords = diabetes insipidus, insipidus, diabetes
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5/37. Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation.

    We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial dna analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels. Recent reports describe the 8296 mutation identified in patients with diabetes mellitus or myoclonus epilepsy with ragged-red fibers, not MELAS. We conclude that the 8296 mutation is likely to be pathogenic and that it may be not only a mutation responsible for diabetes mellitus or myoclonus epilepsy with ragged-red fibers but also for MELAS.
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ranking = 0.055167262731638
keywords = diabetes
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6/37. septo-optic dysplasia: a literature review.

    BACKGROUND: septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth. METHOD: This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD. RESULTS: SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe. CONCLUSIONS: The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.
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ranking = 0.027583631365819
keywords = diabetes
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7/37. wolfram syndrome.

    The wolfram syndrome is a rare dysmorphogenetic disease of autosomic recessive hereditary nature. The pathogenesis of the disease is still not well known. It is characterised by the presence of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Other anomalies, such as renal outflow tracts and multiple neurological disorders may develop later. In our case report the diabetes mellitus appeared at the age of 4; the hearing loss and renal disturbances at the age of 11; the optic atrophy at the age of 16. No signs of ataxia, diabetes insipidus and neurologic anomalies were found. The diagnosis of wolfram syndrome is not always easy in the first stages of the disease. The suspect may come from the presence of a juvenile diabetes mellitus asssociated with optic atrophy. For the diagnosis a valid clue can be given from the results of some clinical tests such as the positivity of the visual evoked potentials and the retinogram reliefs and the exclusion of the autoimmune origin of the diabetes mellitus. Other signs such as the progressive sensorineural hearing loss, the presence of nystagmus and of urodynamic disturbances and renal complications makes the diagnosis of this syndrome easier.
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ranking = 2.1103345254633
keywords = diabetes insipidus, insipidus, diabetes
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8/37. Wolfram (DIDMOAD) syndrome: report of two patients.

    We report a girl with wolfram syndrome who presented with juvenile-onset diabetes mellitus when she was 4 3/12 years old. optic atrophy and high frequency sensorineural hearing loss were found at 7 and 9 5/12 years of age, respectively. Her younger brother also developed wolfram syndrome when he was 3 2/12 years old. wolfram syndrome is also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). This syndrome is transmitted as an autosomal recessive trait and is a progressive neurodegenerative disorder. It should be considered in a diabetic patient with unexplained optic atrophy, hearing loss, or polyuria and polydipsia in the presence of adequate blood glucose control. visual acuity should be checked annually in patients with juvenile-onset diabetes mellitus. optic atrophy should be considered if visual acuity is impaired.
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ranking = 1.0827508940975
keywords = diabetes insipidus, insipidus, diabetes
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9/37. Vascular implications of optic atrophy.

    optic atrophy can often be a result of arterial blood flow insufficiency associated with systemic vascular disease (cardiovascular disease, hypertension, or diabetes mellitus). The lack of adequate blood perfusion pressure can create conditions leading to anoxia and death of the nerve fiber layer with a resultant visual field defect. A case of a 63-year-old white male is presented with optic atrophy resulting from anterior ischemic optic neuropathy 5 years earlier. A review of the literature concerning the more common causes of ocular vascular insufficiency (i.e., anterior ischemic optic neuropathy, internal carotid disease, central retinal artery occlusion, and branch retinal artery occlusion) as well as diagnostic testing and therapeutic management is discussed.
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ranking = 0.027583631365819
keywords = diabetes
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10/37. diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD syndrome). A clinical study in two Sudanese families.

    Four Sudanese children with DIDMOAD syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) are reported. They were two boys (aged 15 and 16 years) in one family and a boy and a girl (aged 16 and 6 years, respectively) in another family. diabetes mellitus was first to appear (at 3-8 years) followed by deafness and visual failure; and the disease ended fatally in one patient (aged 20 years). In the other three, diabetes insipidus was confirmed using water deprivation test for 8 hours. The maximum urine osmolality ranged between 131-523 mOsm/kg, whereas the corresponding plasma osmolality ranged between 315-332 mOsm/kg. Slight further improvement in urine concentration was observed in 2 of the patients following the use of desmopressin (DDAVP, 20 micrograms intranasally). Intravenous pyelography, voiding cystourethrography and ultrasound revealed severe bilateral hydronephrosis, dilated ureters and distended bladder without vesicoureteral reflux in the three patients. With the high rate of consanguinity prevalent in North africa and the middle east, we recommend examining children who present with diabetes mellitus in this region for features of DIDMOAD syndrome.
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ranking = 2.936590370343
keywords = diabetes insipidus, insipidus, diabetes
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