Cases reported "Eye Neoplasms"

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1/15. Rotary atlanto-axial subluxation with torticollis following central-venous catheter insertion.

    Atlanto-axial subluxation with torticollis is an uncommon condition that occurs in children usually as a result of pharyngeal infection, minor trauma, or neck surgery. Passive motion of the head and neck during general anesthesia is probably another etiologic factor. torticollis is the most common presenting physical finding. pain may or may not be present, but is commonly present with passive neck motion. Neurologic sequelae are uncommon. Our case illustrates this condition as a complication of central venous catheter (CVC) insertion in a child under general anesthesia. The surgeon should suspect this pathology when a child presents with torticollis following CVC placement. Precautions should be taken in the operating room to avoid aggressive rotation and extension of the child's neck while under general anesthesia whether or not cervical inflammation is present. Special attention to head and neck positioning should be taken in patients with Down's syndrome since they are at increased risk for atlanto-axial subluxation. The prognosis is excellent when diagnosed early. A delay in diagnosis can result in the need for surgical intervention.
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keywords = physical
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2/15. A corneal diffuse neurofibroma as a manifestation of von recklinghausen disease.

    PURPOSE: To report a case of a primary corneal diffuse neurofibroma in a patient with von Recklinghausen disease (NF-1). methods: Case report. A physical examination and histopathology were performed. The immunohistochemical studies were performed using an avidin-biotin-peroxidase complex technique on formalin-fixed and paraffin-embedded tissue. Histologic sections from corneal tissue were incubated with primary antibodies against vimentin and S-100 protein. A complementary ultrastructural study of the same formalin-fixed and paraffin-embedded tissue was made. RESULTS: The ophthalmologic examination revealed a yellowish-white elevated mass that involved the supratemporal cornea but not the limbus. Histologic study showed a tumor of the peripheral nerve sheath, a diffuse neurofibroma in the corneal stroma, and proliferation of spindle cells with markedly elongated nuclei. cells comprising the tumor reacted with vimentin and S-100 protein, and the ultrastructural studies revealed myelinated nerve fibers confirming the diagnosis. CONCLUSION: The development of a primary diffuse neurofibroma in the cornea of patients with von Recklinghausen disease is possible. The present case supports the statement that neurofibromas arising from the peripheral nerve sheath may involve any part of the body.
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ranking = 10.765625
keywords = physical examination, physical
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3/15. Multiple endocrine neoplasia syndrome--type 2b. Case report and review.

    The multiple endocrine neoplasia syndromes are an association of tumours of 2 or more endocrine glands. multiple endocrine neoplasia type 2b (MEN 2b) patients develop medullary thyroid carcinoma and pheochromocytomas as well as unique physical characteristics. Most commonly, MEN2b is inherited with an autosomal dominant pattern although sporadic cases are not uncommon. If untreated the disease may be lethal. The facial, oral and ocular characteristics are reliable markers of the disease. These patients give a history most commonly of slipped capital femoral epiphysis, hypertension and life-long diarrhoea and/or constipation. MEN2b is most commonly characterised by nodules on the anterior aspect of the tongue, thickened lips with nodules, thickened upper eyelids, broadened nasal bridge, thickened corneal nerves and dilated, symmetrical, pedunculated nodules on the cheek mucosa. The patient described has most of these characteristics. Radiographic features of the jaws which have not been previously described are reported. These include a markedly enlarged and bifurcated inferior alveolar canal and shortened roots of the lower incisor teeth. Due to the lethality of the disease, patients who present with the above physical characteristics must be further investigated to exclude MEN2b.
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keywords = physical
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4/15. Extrascleral malignant melanoma.

    We present two cases of anterior extrascleral extension of malignant melanoma in eyes previously blind from other causes. In both cases, the tumor was not detected by the physician but rather by the patient himself (case 1) or his wife (case 2). In one case, the tumor became manifest more than 60 years after the eye became blind from trauma. Although blind eyes may harbor lethal tumors and, therefore, need regular examinations, this simple part of the physical examination frequently remains neglected by ophthalmologists as well as by primary care physicians. We wish to emphasize the potential life-saving importance of regular examinations of blind eyes.
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ranking = 10.765625
keywords = physical examination, physical
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5/15. Solitary retinal astrocytoma.

    Astrocytic hamartomas are typically white, well-circumscribed, elevated lesions arising in single or multiple areas of the retina and epi- or peripapillary optic nerve. These lesions are most commonly associated with tuberous sclerosis and less commonly associated with neurofibromatosis. However, solitary retinal or optic nerve astrocytomas can be found in normal individuals. This paper reviews the case of a 48-year-old white female who presented with a solitary retinal astrocytoma of the right eye, without any other physical or ocular disorder. The histopathological and clinical appearance and course of astrocytomas, its differential diagnosis from other retinal and optic nerve lesions, and its association with tuberous sclerosis are discussed.
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keywords = physical
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6/15. Heterotopic ciliary epithelial differentiation in a patient with trisomy 13.

    A premature infant was born with congenital anomalies suggestive of trisomy 13, confirmed by karyotype analysis. Pathologic examination of the eyes revealed typical features of trisomy 13, including microphthalmos, extensive colobomata, and retinal dysplasia. A heterotopic ciliary body had also developed in the posterior segment of the left eye in the region of the posterior coloboma. The development of a well-formed ciliary body in the posterior segment of the eye questions the hypothesis that physical contact between the lens primordium and neuroepithelium is required for ciliary body development.
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keywords = physical
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7/15. Infantile leukocoria caused by posterior lenticonus.

    Posterior lenticonus--a bulging of the posterior capsule and cortex--is an acquired lens abnormality, which becomes increasingly opaque. We report an unusual case of bilateral posterior lenticonus in an infant, who initially presented with leukocoria and was referred with a diagnosis of retinoblastoma. Careful physical examination and ultrasound analysis were important in the diagnosis. Ultrasound also aids the surgeon in planning therapy. Posterior lenticonus should be considered in the differential diagnosis of retinoblastoma.
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ranking = 10.765625
keywords = physical examination, physical
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8/15. anterior chamber metastasis from neuroblastoma.

    An apparently normal 10-day-old girl had, since birth, a gray-white vascularized tumor in the inferior quadrants of the right anterior chamber. General physical examination revealed abdominal distension, hepatomegaly, splenomegaly, and a deeply located abdominal mass. Multiple subcutaneous nodules scattered all around the body's surface could be palpated. Surgical exploration confirmed the presence of a left adrenal neuroblastoma. Six months after a complete resection of the abdominal tumor and general radiotherapy and chemotherapy, the right anterior chamber mass regressed almost completely, leaving only a calcified residue. The child is living and well six years after the diagnosis of neuroblastoma. This is the first case known to us in the literature of a congenital anterior chamber metastasis, as well as the first case reported of an anterior segment metastasis from a neuroblastoma.
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ranking = 10.765625
keywords = physical examination, physical
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9/15. Bilateral corneal dermis-like choristomas; an x chromosome-linked disorder.

    A male child was born with bilateral corneal opacification. His maternal uncle and a male first cousin of the patient's mother also had been born with identical bilateral corneal opacification that was pathologically proven to result from corneal dermoids. Histopathological examination of tissue removed from the present patient at the time of lamellar keratoplasty revealed thickened, keratinized epithelium, absent Bowman's membrane, and dense, irregular bands of highly vascularized collagenous connective tissue. No adnexal appendages were identified. The remainder of the ocular and general physical examination results was normal. In view of these clinical and histopathological similarities, the diagnosis of corneal dermis-like choristomas was made. To our knowledge, this report is the first to describe a family with x chromosome-linked recessive transmission of this condition.
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ranking = 10.765625
keywords = physical examination, physical
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10/15. An unusual family with retinoblastoma.

    Reported here is an unusual family with retinoblastoma. The father has spontaneously regressed, bilateral, multifocal retinoblastoma with complete preservation of vision. Three of his six children have had bilateral retinoblastoma requiring bilateral enucleation. At least two of these three children have an associated mental and physical retardation. Chromosome number 13 in this family was normal.
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keywords = physical
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