1/13. Recurrent hyphema in an aphakic child: Swan syndrome.In 1973, Swan described 3 patients who developed hyphema months to years after uncomplicated cataract surgery. He noted focal vascularization from an ingrowth of episcleral vessels at the cataract wound site, resulting in recurrent intraocular bleeding. Swan syndrome has been reported following intracapsular cataract extraction, extracapsular cataract extraction (including clear corneal incisions), iridocyclectomy, and glaucoma filtering procedures. patients typically present with sudden painless blurred vision, often upon awakening, which may or may not be preceded by physical strain or trauma. Other patients are asymptomatic and diagnosed with hyphema or anterior chamber red blood cells on routine examination. The hyphema often resolve spontaneously, making later diagnosis difficult. Gonioscopic visualization of the abnormal wound vessels is necessary for diagnosis. Without active bleeding, however, the fibrovascular tuft may be easily overlooked. We report a case of Swan syndrome in a 16-month-old boy after cataract extraction was performed. To our knowledge, Swan syndrome has not been reported in the pediatric population. Children represent a significant proportion of patients undergoing anterior segment surgery and Swan syndrome should be considered in the differential diagnosis of hyphema in this population.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/13. Ocular manifestations of Donohue's syndrome.INTRODUCTION: Donohue's syndrome, also known as Leprechaunism, is a rare autosomal recessive disease that manifests at birth with symptoms of endocrine dysfunction. Metabolic characteristics of the disease include postprandial hyperglycemia, fasting hypoglycemia, insulin resistance, hyperinsulinemia, and failure to thrive. The physical features most often associated with this condition include hypertrichosis, pachyderma, acanthosis nigricans, prominent genitalia, and elfin-like facial characteristics of prominent eyes, wide nostrils, thick lips, and large, low-set ears. Not only is this syndrome rare, but it often results in infant and early childhood mortality. The literature regarding ocular manifestations is limited. CASE REPORT: We present a case of a 29-year-old male with Donohue's syndrome and significant ocular findings including a subluxated mature cataract, retinal detachment, high myopia, and optic atrophy. DISCUSSION: These ocular sequelae are discussed with regard to the noted endocrine dysfunction and its effects on tissue development and growth.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/13. Right thalamic hemorrhage resulting from high-voltage electrical injury: a case report.A 12-year-old boy was admitted with electrical burn and loss of consciousness. On physical examination his general condition was poor. Extensive burn areas, second and third degree, were present on his face, scalp, bilateral auricles, right cervical region, shoulders, right axilla, upper region of the thorax, and proximal region of the upper extremities. The total burned surface area was about 25%. Pupils were isocoric, but response to light was bilateral poor. He was stuporous and responsive only to pain. Deep tendon reflexes were exaggerated and plantar responses were bilateral extensor. Bilateral decorticate rigidity was noted. Computerized tomography of brain revealed brain edema and right thalamic hemorrhage. magnetic resonance imaging of brain, examined 25 days after admission, revealed right thalamic hemorrhage and mild right subdural effusion. He was discharged form hospital 40 days after admission. However, spastic quadriplegia and severe mental retardation remained as sequela. On the 4th month of follow-up, no improvement was noted in his neurological examination. On the 9th month of follow-up, his clinical condition was better, but bilateral electric cataract was diagnosed. Both eyes were operated on and intraocular lenses were implanted with good results. Now he is 16th month of follow-up: neurological examination revealed only mild hemiparesis on the left side and mild articulation disorder. His school performance was moderate and intelligence quotient was 71. magnetic resonance imaging of brain showed markedly improvement of the hemorrhage. To our best knowledge thalamic hemorrhage resulting from high-voltage electrical injury has not previously been reported in the literature.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/13. Presumed ocular sarcoidosis.BACKGROUND: sarcoidosis is a multisystemic granulomatous disease of unknown etiology. Ocular manifestations commonly occur in patients with sarcoidosis, with a granulomatous anterior uveitis as the most-prevalent ocular sign. Acute symptoms of uveitis, such as pain, photophobia, lacrimation, or redness, may be absent. Without early detection and timely treatment, this "silent uveitis" may cause permanent ocular damage. case reports: Two patients came in for routine eye examinations, with no symptoms of anterior uveitis. The first, a 36-year-old man, had a bilateral granulomatous anterior uveitis. The uveitis was treated with topical corticosteroids, with no complications. The second case involved a 44-year-old woman with chronic, recurrent, bilateral, non-granulomatous anterior uveitis. Despite treatment with topical and oral corticosteroids. the patient had a prolonged course with recurrent episodes leading to secondary sequelae, including glaucoma and cataract. Both patients were co-managed with internal medicine, and in each case, systemic workups were consistent with sarcoidosis. CONCLUSION: Anterior uveitis often manifests as the initial presentation of sarcoidosis. Without acute symptoms, the detection and diagnosis may be delayed, leading to visual deterioration. The diagnosis of sarcoidosis may be difficult, owing to the lack of definitive diagnostic criteria and a variety of presentations. Histologic confirmation may not always be possible or practical. However, a range of serological and radiological tests, when combined with physical and ophthalmic evaluation, can lead to the presumed diagnosis of sarcoidosis. Aggressive treatment is imperative in order to prevent permanent structural damage to the eye resulting from this idiopathic inflammation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/13. Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome?monilethrix is a rare developmental hair shaft defect characterized by small elliptical node-like deformities with increased hair fragility resulting in partial or diffuse alopecia. The disorder is usually transmitted in an autosomal dominant fashion with incomplete penetrance and variable expressivity, but autosomal recessive inheritance has also been reported. It is thought to be without systemic involvement, whereas keratosis pilaris and follicular papules are almost invariably associated features. We describe an instance of monilethrix in a 9-year-old boy from consanguineous parents, characterized by universal dystrophic alopecia associated with intractable scalp pruritus, diffuse keratosis pilaris, and bilateral posterior subcapsular cataracts. His disease was further characterized by physical underdevelopment and distinct features of hypertelorism, a wide-based nose, long philtrum, relatively large mouth with thick lower lip, enlarged forehead, small, receding chin, short neck, and rounded (ultrabrachycranial) skull. The findings in our patient suggest that "monilethrix syndrome" is an appropriate term for defining the instances of monilethrix associated with other abnormalities. We conclude that our patient may represent a new and severe, autosomal recessive variant of monilethrix syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/13. A possible case of werner syndrome presenting with multiple cancers.The treatment of a man with six metachronous primary cancers is described. The primary lesions were in the soft palate, both edges of the tongue, the hard palate, the esophagus, and the right ureter. Pathologically, all of the first five tumors in the head and neck and esophagus were proven to be squamous cell carcinoma with various grades of differentiation, and the last one was transitional cell carcinoma. The cancers were found in the early clinical stage, and were completely controlled one by one except for the ureteral tumor under treatment. His characteristic medical history and physical findings, i.e. bilateral cataracts, short stature, baldness, diabetes mellitus, high-pitched voice, and multiple malignancies, met the clinical criteria for possible werner syndrome, a genetic premature aging disorder, though the possibility of phenocopy of this syndrome has not been ruled out. We have followed him carefully because he might be vulnerable to malignant tumor formation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/13. Congenital rubella infection from reinfection of previously immunised mothers.Two children developed congenital rubella infection when their mothers had been proven to be satisfactorily immunised against rubella before the affected pregnancy. One child was severely affected with heart lesions, brain damage, severe deafness, physical retardation, cataracts and rubella retinopathy. The other child had moderately severe sensorineural deafness and a mild reduction in visual acuity due to rubella retinopathy.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/13. Ocular findings in a 4 p- deletion syndrome (Wolf-Hirschhorn).The ocular findings in a newborn with Peters' anomaly and opacity of the lens led to a search for a chromosomal deletion syndrome, confirmed by dna autoradiography as a partial monosomy 4, wolf-hirschhorn syndrome. The child was followed for 13 months. Multiple physical anomalies were observed including incomplete nasal cleft, cerebellar malformations, congenital heart defects, renal malformations, inguinal hernia, malformations of thumbs and toes. Broad beaked nose, broadened nasal root, epicanthus, defect of the medial half of the eyebrows, right-sided facial hypoplasia were the periocular findings. Bilateral microphthalmos, Peters' anomaly with cataracts, and posterior chambers without evident pathology, were found. If the physical development stays satisfactory, anterior segment reconstructive procedures including lensectomy and corneal grafting may prove successful.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
9/13. warfarin embryopathy in siblings.Two siblings were noted to have the physical stigmata of the fetal warfarin syndrome. Their mother had received warfarin sodium for thrombophlebitis during both pregnancies but not during that of an unaffected sibling. teratogens may produce syndromes that mimic genetic disease in both phenotype and familial aggregation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/13. Monocular deprivation in humans: a study of identical twins.Ultrasonic axial length measurements and psychophysical vernier acuity thresholds were determined for a pair of identical human twins, one of whom had been monocularly deprived since birth with a congenital lens opacity. Axial lengths of both eyes in the normal twin and the nondeprived eye in the other twin differed by less than 0.2 mm, whereas the axial measurement of the deprived eye was approximately 2.0 mm longer. Monocular vernier acuity thresholds in the nondeprived eye of the one twin were not significantly different from those obtained in the normal twin. Our findings are consistent with previous reports of increased axial length after monocular deprivation deprivation but do not support the concept of enhanced vernier acuity in the nondeprived eye of monocularly deprived humans.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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