1/1795. A case of Austrian's syndrome with ocular involvement.A man with a history of alcohol abuse was admitted to hospital with pneumonia and meningitis due to streptococcus pneumoniae. Because of the worsening of respiratory function and the persistence of fever, an echocardiographic examination was made, which showed endocarditis with destruction of the aortic valve. The patient underwent surgical valve replacement. In addition, he showed a choroiditis in the left eye which improved after antibiotic therapy. The interest of this case lies in the rarity of the triad described as Austrian's syndrome and in the coexistent fourth septic localization, namely in the left eye.- - - - - - - - - - ranking = 1keywords = ocular, eye (Clic here for more details about this article) |
2/1795. Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification.We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Our case corresponds exactly to type IIb in the classification of phakomatosis pigmentovascularis proposed by Hasegawa. As this classification seems very extensive, the higher incidence of cases corresponding to the second subtype suggests that we should identify it by the term phakomatosis pigmentovascularis, while the others could be considered as only very uncommon variants.- - - - - - - - - - ranking = 0.24659022683084keywords = ocular (Clic here for more details about this article) |
3/1795. magnetic resonance imaging of acquired Brown syndrome in a patient with psoriasis.PURPOSE: To report the occurrence of acquired Brown syndrome and associated magnetic resonance imaging findings in a patient with psoriasis. methods: A 42-year-old woman with a history of psoriasis developed pain, double vision, and limited elevation of her left eye in adduction. An orbital magnetic resonance image with gadolinium enhancement was obtained. RESULTS: Orbital magnetic resonance image disclosed abnormal enhancement of the left trochlea/tendon complex. The patient's symptoms resolved with corticosteroid therapy. CONCLUSIONS: Acquired Brown syndrome may be associated with psoriasis. The inflammation of the trochlea/tendon complex that can cause acquired Brown syndrome can be demonstrated on magnetic resonance image.- - - - - - - - - - ranking = 0.0068195463383192keywords = eye (Clic here for more details about this article) |
4/1795. Epidermal naevus syndrome and hypophosphataemic rickets: description of a patient with central nervous system anomalies and review of the literature.The epidermal naevus syndrome (ENS) is a rare dermatological condition consisting of congenital epidermal nevi associated with anomalies in the central nervous system, bones, eyes, hear or genito-urinary system. We report a new case of ENS associated with hypophosphataemic rickets. The girl was born with a mixed-type epidermal naevus and skeletal anomalies. Hypophosphataemic rickets was diagnosed at the age of 2.5 years. At 14 years of age. MRI of the head demonstrated right brain hypotrophy, a left temporal arachnoid cyst and asymmetric lateral ventricles. We reviewed the literature and found 13 reported cases of ENS associated with hypophosphataemic rickets. Conclusion We report a further patient with epidermal naevus syndrome and hypophosphataemic rickets, followed from birth to the age of 15 years, who had structural central nervous system anomalies with normal intellectual functioning. A comprehensive neurological work up is recommended in patients with epidermal naevus syndrome.- - - - - - - - - - ranking = 0.0068195463383192keywords = eye (Clic here for more details about this article) |
5/1795. ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.- - - - - - - - - - ranking = 1.2329511341542keywords = ocular (Clic here for more details about this article) |
6/1795. Delineation of two distinct 6p deletion syndromes.Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.- - - - - - - - - - ranking = 0.0068195463383192keywords = eye (Clic here for more details about this article) |
7/1795. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.PURPOSE: To report a 10-year-old girl with developmental anomalies of both optic disks, a chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and moyamoya disease. methods: A full ophthalmologic examination, cranial magnetic resonance imaging and magnetic resonance angiography, and cerebral angiography were performed. RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic nerve hypoplasia and retinochoroidal coloboma in the left eye. She had a midfacial cleft and an episode of seizures and a stroke. magnetic resonance imaging showed a sphenopharyngeal meningoencephalocele. magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease. CONCLUSIONS: This patient had a distinct syndrome of optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may occur during or after general anesthesia.- - - - - - - - - - ranking = 0.013639092676638keywords = eye (Clic here for more details about this article) |
8/1795. hepatic encephalopathy--a physostigmine-reactive central anticholinergic syndrome?This report describes an association between hepatic encephalopathy and central anticholinergic syndrome (CAS). A 60-year-old anaemic woman was admitted unconscious and with a delayed reaction to pain but with no focal neurological deficits. She had signs of portal hypertension and a history of non-alcoholic liver cirrhosis grade child B. Suspecting upper gastro-intestinal bleeding, she was intubated for gastro-duodenoscopy and a fibrin-covered ulcer was revealed. Raised intra-abdominal pressure resulting from ascites caused cardiopulmonary failure, which required mechanical ventilation for 24 h, but extubation was possible after drainage of the ascites and blood volume replacement therapy. However, her neurological state remained unchanged despite normal blood ammonia concentration and no sedation. CAS was considered and physostigmine injected with immediate effect. The patient opened her eyes immediately and was fully orientated to personal and medical history. We suggest that hepatic encephalopathy may trigger CAS, although the significance of physostigmine in the treatment of hepatic encephalopathy remains to be addressed by controlled investigations.- - - - - - - - - - ranking = 0.0068195463383192keywords = eye (Clic here for more details about this article) |
9/1795. Nevoid basal cell carcinoma syndrome.A case report of a young girl with nevoid basal cell carcinoma syndrome is presented. The patient showed cutaneous and skeletal findings characteristic of the syndrome. Multiple basal cell carcinomas, rib abnormalities, along with clinical evidence of frontal bossing and ocular hypertelorism were the primary features of the syndrome in this patient. It is suggested that other characteristics of the syndrome, such as jaw cysts, palmar and plantar pitting and calcification of the falx cerebri will develop as the patient grows older. Careful observation, particularly for medulloblastoma and malignant degeneration and invasiveness of basal cell carcinomas, will be an integral part of this young patient's care.- - - - - - - - - - ranking = 0.24659022683084keywords = ocular (Clic here for more details about this article) |
10/1795. Atypical vertical retraction syndrome: a case study.A case of unilateral retraction of the eyeball in downward gaze as well as downshoot with the retraction when an outward horizontal movement of the contralateral eye was attempted has been introduced. The case has an exotropia with inability to adduct involved eye. The face turned to the left to minimize diplopia in the primary position. During the retraction, the lid widened slightly. An analyses by electrooculography and electromyography suggested that there was an abnormal neural connection between the vertical recti of the involved eye and the contralateral lateral rectus muscle. Co-contraction of vertical recti and loss of the reciprocal innervation were seen at the involved eye. Surgical treatment for exotropia, and total transplantation of vertical recti to the insertion of the involved medial rectus resulted in a slight reduction of the exotropia with the face straight, but not in the retraction as well as adduction and elevation of the involved eye. Based on the results, a central mechanism to produce above abnormality was described.- - - - - - - - - - ranking = 0.040917278029915keywords = eye (Clic here for more details about this article) |
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