Klippel-Trenaunnay syndrome is characterized by three typical clinical manifestations; 1) Capillary malformations (port-wine stains), 2) bony and soft tissue hypertrophy, 3) varicosities or venous malforamation, but many other clinical manifestations can be presented. Although many associated clinical manifestations were reported in Klippel-Trenaunay syndrome, peripheral polyneuropathy or any other results of electrodiagonostic study were not reported previously. We experienced a 22 year old male who was transfered in rehabiliation program after surgical management of intra cerebral hemorrhage. During rehabilitation program we diagnosed him as Klippel-Trenaunay syndrome by three typical clinical manifestations associated with dilated cardiomyopathy. He also presented sensory impairment in distal part of all extremites. Electrodiagonostic study revealed peripheral polyneuropathy. We concluded that the possibility of peripheral polyneuropathy should be considered in Klippel-Trenaunnay syndrome.
Capillaries ; Cardiomyopathy, Dilated ; Cerebral Hemorrhage ; Humans ; Hypertrophy ; Klippel-Trenaunay-Weber Syndrome* ; Male ; Polyneuropathies* ; Rehabilitation ; Young Adult

No abstract available.
Eyelids ; Mucocele ; Neurothekeoma

OBJECTIVE: To investigate the effect of cervical orthosis upon swallowing and the differences of bracing effect between normal people and spinal cord injured patients. METHOD: 12 normal adults and 32 cervical cord injured patients who were wearing one of the three common cervical orthoses (soft neck collar, Philadelphia brace, and Minerva brace) were recruited. Swallowing function was evaluated by videofluoroscopic swallowing study (VFSS) without cervical bracing for the baseline data and with cervical bracing to compare with baseline data. The parameters observed were oropharyngeal diameter, initiation point of swallowing, hyoid bone movement, laryngeal penetration, aspiration, and residual volume after swallowing. RESULTS: Cervical orthoses decreased oropharyngeal diameter, reduced hyoid bone movement, increased residual volume, and changed initiation point of swallowing. Minerva brace revealed to give more influence than other braces. Normal adult group and patient group showed no difference in cervical bracing effect. CONCLUSION: Attention should be paid to swallowing function when cervical bracing is needed because cervical bracing itself can increase the risk of aspiration.
Adult ; Braces ; Deglutition* ; Humans ; Hyoid Bone ; Neck ; Orthotic Devices* ; Residual Volume ; Spinal Cord

PURPOSE: Recent reports suggest the association of human papilloma virus (HPV) with retinoblastoma. This study was performed to elucidate whether HPV infection is related to retinoblastoma among Koreans. METHODS: A total of 54 cases diagnosed with retinoblastoma were enrolled from Seoul National University Children's Hospital and Seoul Metropolitan Government-Seoul National University Boramae Medical Center. Presence of human papilloma viral DNA was detected by in situ hybridization in formalin-fixed paraffin-embedded retinoblastoma tissues using both probes against high- and low risk HPV types. RESULTS: The mean age at diagnosis was 22.0 months (range, 1.1 to 98.0 months), and the mean age at enucleation was 27.8 months (range, 1.5 to 112.7 months) among the 54 patients with retinoblastoma. HPV was not detected in any of the retinoblastoma samples using either high risk or low risk HPV probes. CONCLUSIONS: Our study, being the first study in the Korean population, proposes that HPV infection may have no causal relationship with retinoblastoma in Koreans.
Child, Preschool ; DNA, Viral/*analysis ; Eye Infections, Viral/complications/diagnosis/*epidemiology ; Female ; Humans ; In Situ Hybridization ; Incidence ; Infant ; Male ; Papillomaviridae/*genetics ; Papillomavirus Infections/complications/diagnosis/*epidemiology ; Prevalence ; Prognosis ; Republic of Korea/epidemiology ; Retinal Neoplasms/complications/pathology/*virology ; Retinoblastoma/pathology/*virology

PURPOSE: To compare the intraocular pressure (IOP) measured using Goldmann-applanation tonometry (GAT) and Tonopen® tonometry and to evaluate the factors influencing the measurement difference in patients with thyroid-associated ophthalmopathy (TAO)-related restrictive strabismus. METHODS: In 50 eyes of 50 patients who were diagnosed with TAO, IOP measurements were taken using both GAT and a Tonopen® and were subsequently compared between the devices. Factors influencing the measurement difference between the devices were determined, including the restriction of eyeball movement, eyeball deviation, exophthalmometry, central corneal thickness, refractive errors, and blood thyroid hormone levels. RESULTS: In the TAO patients, the GAT-measured IOP was higher than for Tonopen® (16.1 ± 4.7 vs. 13.8 ± 4.5 mmHg, respectively, p < 0.001). As the restriction of vertical eyeball movement increased, the IOP difference between the devices also increased (p = 0.037). The absolute IOP difference between the devices was positively correlated with restrictions in vertical eyeball movement (p = 0.027), degree of vertical strabismus (p = 0.021), and central corneal thickness (p ≤ 0.031). CONCLUSIONS: In patients with TAO accompanying vertical eyeball movement restriction, potential errors in IOP measurements should be considered between the different IOP-measuring devices.
Graves Ophthalmopathy* ; Humans ; Intraocular Pressure* ; Manometry* ; Refractive Errors ; Strabismus* ; Thyroid Gland ; Troleandomycin

PURPOSE: To report a case of syringocystadenoma papilliferum that presented as an eyelid nodule. CASE SUMMARY: A 37-year-old woman presented with a mass around the punctum in the right lower eyelid margin, which had developed several years earlier and was increasing in size. The mass was a light pinkish nodule consisting of a few smooth-surface papillary lobules. The pathologic findings of the specimen obtained from a shaving biopsy showed a papillary projection which was covered with epithelium and communication with duct-like structures showing glandular configuration in the deep portion of the lesion. EMA-positive cells were found at the invaginated epithelium, implying a glandular epithelial origin. GCDFP-15-positive cells were found in the deep portion of the lesion, implying apocrine differentiation. The findings were compatible with syringocystadenoma papilliferum. CONCLUSIONS: Syringocystadenoma papilliferum should be considered as a differential diagnosis of a solitary eyelid tumor.
Adult ; Biopsy ; Diagnosis, Differential ; Epithelium ; Eyelids ; Female ; Humans ; Light

PURPOSE: To evaluate the surgical results of lower eyelid retraction using autologous ear cartilage graft. METHODS: Fifty patients (54 eyes) who received surgical correction of lower eyelid retraction by lower eyelid retractors and conjunctiva recession from the tarsal plate with autologous ear cartilage grafts from March 2002 to July 2010 were evaluated. Medical records were reviewed and clinical characteristics, surgical outcomes, and postoperative complications were analyzed retrospectively. RESULTS: The use of prosthesis due to anophthalmos or microphthalmos (22 eyes) was the most common cause of lower eyelid retraction. The mean postoperative follow-up period was 16.6 months (1-98 months). Lower eyelid retraction was successfully corrected in 52 of 54 eyes. Postoperatively, 2 cases of corneal erosions, 1 case of conjunctival erosion, and 2 pyogenic granulomas developed. Corneal and conjunctival erosions resolved with conservative management and granulation tissues were removed by excision. CONCLUSIONS: Correction of lower eyelid retraction using autologous ear cartilage graft is an excellent surgical procedure with low complication rates for eyelid retraction of various etiologies.
Anophthalmos ; Conjunctiva ; Ear ; Ear Cartilage ; Eye ; Eyelids ; Follow-Up Studies ; Granulation Tissue ; Granuloma, Pyogenic ; Humans ; Medical Records ; Microphthalmos ; Postoperative Complications ; Prostheses and Implants ; Transplants

PURPOSE: To analyze the features of lacrimal drainage system obstruction confirmed during external dacryocystorhinostomy surgeries and report the surgical outcomes. METHODS: We reviewed the medical records of a total of 769 cases who underwent external dacryocystorhinostomy for primary lacrimal drainage obstruction between 2005 and 2014. Data about detailed location and extent of obstruction were collected intraoperatively. The sites of obstruction were classified into nasolacrimal duct obstruction (NLDO), common canalicular obstruction (CCO), and canalicular obstruction. Lacrimal sac mucosa and lumen were grossly inspected, and the frequency of lacrimal sac changes, such as significant inflammation or fibrosis, was analyzed in cases of CCO or canalicular obstruction. The surgical success rate was also evaluated including effect of lacrimal sac status in the CCO and canalicular obstruction groups. RESULTS: Of 769 cases, primary NLDO with patent canaliculi was diagnosed intraoperatively in 432 cases (56.2%), CCO in 253 (32.9%), and canalicular obstruction in 84 (10.9%). Of 253 cases with CCO, 122 (48.2%) showed clear lacrimal sac lumen, and the other 131 (51.8%) showed significant inflammation or fibrosis of the lacrimal sac. In cases with canalicular obstruction, 35 of 84 (41.7%) showed a clear lacrimal sac, and the other 49 cases (58.3%) cases revealed mucosal changes of the lacrimal sac. The functional success rate was 87.5% for primary NLDO, 75.5% for CCO, and 72.6% for canalicular obstruction. In the CCO group, the functional success rate was lower in cases with significant lacrimal sac change (p = 0.044). CONCLUSIONS: Even in patients with CCO or canalicular obstruction, a large number of cases have lacrimal sac changes, and those changes were associated with lower functional success rate.
Dacryocystorhinostomy* ; Drainage ; Fibrosis ; Humans ; Inflammation ; Lacrimal Duct Obstruction ; Medical Records ; Mucous Membrane ; Nasolacrimal Duct