11/913. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes.We report on a 4 year-old girl with a 1p36.3-pter deletion. Clinical findings included minor anomalies of face and distal limbs, patent ductus arteriosus, the Ebstein heart anomaly, and brain atrophy with seizures. Conventional GTG-banded chromosome analysis revealed a normal (46,XX) result. Subsequent analysis by fluorescent in situ hybridization (FISH) using distal probes demonstrated a deletion of 1p36.6-pter. Molecular investigations with microsatellite markers showed hemizygosity at three loci at 1p36.3 with loss of the paternal allele. The deletion of 1p36.3 is difficult to identify by banding alone; indeed, our patient represents the third reported case with a del(1)(p36.3) that was detected only after more detailed analysis. In all three cases the deletion was detected through screening of patients with multiple congenital anomalies/mental retardation syndromes suggestive of autosomal chromosome aberrations for subtelomeric submicroscopic deletions by means of FISH or microsatellite marker analysis. On the basis of these observations we highly recommend that FISH with a subtelomeric 1p probe be routinely performed in patients with similar facial phenotype, severe mental retardation and seizures, and a heart malformation, particularly the ebstein anomaly.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
12/913. Progressive facial hemiatrophy (Parry-Romberg syndrome).Three cases of progressive facial hemiatrophy are presented. In all three cases there is evidence of localised scleroderma or morphea in association with the facial hemiatrophy. This would seem to support the contention that the two disorders are closely related. In two cases, ocular complications are prominent and in one Raynaud's phenomena provide clear asymmetrical dilatation of the lateral ventricle suggest that there may be a central rather than a peripheral cause for the sympathetic overactivity.- - - - - - - - - - ranking = 6keywords = atrophy (Clic here for more details about this article) |
13/913. Clinical and histopathologic findings of iris nevus (Cogan-Reese) syndrome.PURPOSE: To report a case of Cogan-Reese syndrome. METHOD: Case report. A 37-year-old man presented with Cogan-Reese syndrome. RESULTS: visual acuity was 0.5 in the right eye and 1.0 in the left eye. There were corneal edema and pigmented nodules on the anterior surface of the iris, iris atrophy and ectropion uvea in the right eye. The intraocular pressure was 42 mmHg in the right eye and there was glaucomatous optic atrophy of the optic disk. trabeculectomy with mitomycin C has been performed as the intraocular pressure did not decrease with the maximum medical treatment. Electron microscopic examination of the trabeculum and the iris tissue revealed a lot of melanocytic cells in the stroma. CONCLUSION: trabeculectomy with mitomycin C might be effective in Cogan-Reese cases with glaucoma resistant to medical treatment.- - - - - - - - - - ranking = 13.056921516843keywords = optic atrophy, atrophy, optic (Clic here for more details about this article) |
14/913. Capsular block syndrome with external blockage of the capsular opening by a ciliary sulcus fixated posterior chamber lens.PURPOSE: To report capsular block syndrome with external blockage of the capsular opening by a posterior chamber lens fixated in the ciliary sulcus. METHOD: Case report. RESULTS: In an 89-year-old man who had undergone cataract surgery, a posterior chamber lens was accidentally fixated in the ciliary sulcus after continuous curvilinear capsulohhexis and phacoemulsification/aspiration. The next day, capsular block syndrome was noted along the posterior chamber lens optic, which was blocking the capsular opening from the outside. CONCLUSION: In all previously reported eyes with capsular block syndrome, the posterior chamber lens had been placed inside the lens capsule to block the continuous curvilinear capsulorhexis opening from the inside.- - - - - - - - - - ranking = 0.46382019685153keywords = optic (Clic here for more details about this article) |
15/913. Interstitial nephritis and uveitis syndrome presenting with bilateral optic disk edema.PURPOSE: To report a rare presentation of the tubulointerstitial nephritis and uveitis syndrome. METHOD: Case report. A 34-year-old woman underwent extensive clinical and laboratory evaluation of bilateral intermediate uveitis and optic nerve edema. RESULTS: Laboratory evaluation and nephrology consultation led to a diagnosis of tubulointerstitial nephritis. The condition resolved with the use of topical and systemic corticosteroids and the discontinuation of ibuprofen. CONCLUSIONS: Tubulointerstitial nephritis and uveitis syndrome is uncommon. It may present with anterior or intermediate uveitis. Chronic intermediate uveitis can cause optic nerve and macular edema. A thorough medical evaluation of any patient presenting with uveitis and systemic disease is essential to the diagnosis and management of uveitis.- - - - - - - - - - ranking = 2.7829211811092keywords = optic (Clic here for more details about this article) |
16/913. Increased density of oligodendrocytes in childhood ataxia with diffuse central hypomyelination (CACH) syndrome: neuropathological and biochemical study of two cases.We report neuropathological, biochemical and molecular studies on two patients with childhood ataxia with diffuse central nervous system hypomyelination (CACH) syndrome, a leukodystrophy recently defined according to clinical and radiological criteria. Both had severe cavitating orthochromatic leukodystrophy without atrophy, predominating in hemispheric white matter, whereas U-fibers, internal capsule, corpus callosum, anterior commissure and cerebellar white matter were relatively spared. The severity of white matter lesions contrasted with the rarity of myelin breakdown products and astroglial and microglial reactions. In the white matter, there was an increase in a homogeneous cell population with the morphological features of oligodendrocytes, in many instances presenting an abundant cytoplasm like myelination glia. These cells were negative for glial fibrillary acidic protein and antibodies PGM1 and MIB1. Some were positive for myelin basic protein, proteolipid protein (PLP), and myelin oligodendrocyte glycoprotein, but the majority were positive for human 2'-3' cyclic nucleotide 3' phosphodiesterase and all were positive for carbonic anhydrase ii, confirming that they are oligodendrocytes. Myelin protein and lipid content were reduced. The PLP gene, analyzed in one case, was not mutated or duplicated. The increased number of oligodendrocytes without mitotic activity suggests an intrinsic oligodendroglial defect or an abnormal interaction with axons or other glial cells. This neuropathological study supports the notion that CACH syndrome constitutes a specific entity.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
17/913. A case of McLeod syndrome with chronic renal failure.A 50-year-old man with the rare McLeod syndrome, associated with glomerular lesion to the end stage of chronic renal failure and death, is reported. McLeod syndrome is an X-linked recessive disorder on the basis of abnormal expression of the Kell blood group antigens and absence of erythrocyte surface Kx antigen. Most often the clinical and pathological findings are retinitis pigmentosa to blindness, progressive chronic neuropathy, cortical atrophy, dilated cardiomyopathy, and glomerular lesion with chronic renal failure. Among the laboratory parameters the most important are very low level of cholesterol and triglycerides, then various numbers of acanthocytes in peripheral blood smears and sometimes in urine (as in our case).- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
18/913. Demonstration of exclusive cilioretinal vascular system supplying the retina in man: vacant discs.PURPOSE: To report the fluorescein angiographic and Doppler ultrasonographic findings in a patient with apparent exclusive ciliary vascular supply of the retina of both eyes. methods: Case report. RESULTS: The ophthalmoscopic appearance of all arterial vessels emanating from both discs was consistent with a cilioretinal origin. Retinal veins also entered each disc peripherally near the margin, leaving the central part of each disc vacant. fluorescein angiography showed filling of all arterial vessels simultaneous with the early-phase choroidal background flush bilaterally. color and power Doppler ultrasonographic imaging demonstrated unequivocally the absence of central retinal vessels within the optic nerves. Both discs were normal in size and excavated with central glial tissue present. The clinical history of monocular, alternating episodes of failing vision with partial resolution and the retinal pigmentation patterns bilaterally were consistent with, though not conclusive for, previous episodes of serous retinal detachments. Coincident systemic anomalies consisted of small kidneys with reduced renal parenchyma discovered on ultrasonography, along with chronic interstitial nephritis. CONCLUSIONS: The ophthalmoscopic appearance of optic discs with apparent all-cilioretinal vascular supply has been reported previously, but proof of the absence of central retinal vessels requires Doppler ultrasonographic evidence corroborated by angiographic findings, as exemplified in our case report. We describe the association of this disc anomaly with renal parenchymal disease and its distinction from colobomatous defects.- - - - - - - - - - ranking = 0.92764039370305keywords = optic (Clic here for more details about this article) |
19/913. Parry-Romberg syndrome with contralateral and ipsilateral extremity involvement.BACKGROUND: The Parry-Romberg syndrome is an acquired progressive hemifacial atrophy involving the subcutaneous tissues of the scalp and face. Involvement of the extremities is uncommon in this syndrome. OBJECTIVE: A case of contralateral and ipsilateral extremity involvement in the Parry-Romberg syndrome is reported, and the difficulties in distinguishing this syndrome from linear scleroderma en coup de sabre are reviewed. methods: A medline search for cases of Parry-Romberg syndrome with contralateral extremity involvement was performed and the cases reviewed. RESULTS: Contralateral extremity involvement in the Parry-Romberg syndrome is rare. CONCLUSION: This may be the first case reported in the English literature of Parry-Romberg syndrome with contralateral and ipsilateral extremity involvement.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
20/913. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.- - - - - - - - - - ranking = 1keywords = atrophy (Clic here for more details about this article) |
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