Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels, whereas the Cu content in nearly all other organs is increased. The main clinical features are irregular kinky hair, characteristic face, progresssive degeneration of the central nervous system, bone changes, arterial rupture and thrombosis, and instability of temperature. We have experienced a case of Menkes disease in a eight months old male patient, who manifested by seizure, developmental delay, hypotonia, characteristic hair and face along with low levels of serum copper and ceruloplasmin. We report the characteristic findings of cranial MRI and MR angiography in this Menke's patient. In cranial MRI, he showed progressive brain atrophy with subdural hemorrhage and effusion. MR angiography revealed tortuosity of vessels clearly obviating necessity of more invasive conventional arteriography in diagnosis of this disease. This study suggested that cranial MRI and especially MR angiography might be helpful in making early diagnosis of this disease.
Angiography ; Atrophy ; Brain ; Central Nervous System ; Ceruloplasmin ; Copper ; Diagnosis ; Early Diagnosis ; Hair ; Hematoma, Subdural ; Humans ; Liver ; Magnetic Resonance Imaging ; Male ; Menkes Kinky Hair Syndrome ; Metabolism ; Muscle Hypotonia ; Neurodegenerative Diseases ; Rupture ; Seizures ; Thrombosis

No abstract available.
Granulomatous Disease, Chronic* ; Trimethoprim-Sulfamethoxazole Combination

PURPOSE: To report a case of a patient who underwent penetrating keratoplasty due to acute hydrops six years after undergoing a bilateral LASIK procedure. METHODS: A 19-year old male patient with -2.75 diopter myopia received a bilateral LASIK operation at a local clinic. Forty-seven months later, -2.00 cyl axis 130o astigmatism was induced in his left eye and additional surgery was performed to correct the LASIK-induced astigmatism. The patient was referred to our hospital 16 months after the secondary operation due to reduced visual acuity in his left eye. He was diagnosed with keratectasia and acute hydrops, and penetrating keratoplasty was performed. RESULTS: The retrospective analysis of the corneal topography prior to the LASIK surgery revealed that the inferior minus superior(I-S) value was 1.25 in the right eye and 1.3 in the left eye. At the time of the first evaluation at out hospital, a slit lamp examination showed an approximate 8 x 7.5mm sized area filled with aqueous humor between the corneal flap and residual stroma, and Descemet's membrane rupture was observed. Furthermore, the histopathological section of the patient's cornea confirmed keratocytes with myxoid degeneration and edematous change. CONCLUSIONS: In young patient, particularly those with suspicious asymptomatic keratoconus, LASIK and further enhancement surgery afterwards should be considered and approached in a cautious and deliberate manner.
Male ; Humans

PURPOSE: To classify Avellino corneal dystrophy (ACD) into 3 groups by slit lamp photography and to evaluate the inter-group differences. METHODS: DNA analysis was performed in one member from each of 45 families who were clinically diagnosed as ACD. Corneal opacities were classified into mild (group I), moderate (group II), and severe (group III) based on slit lamp photograph. RESULTS: Six patients were confirmed as homozygous ACD and ninety-two as heterozygous ACD. One homozygous patient was revealed to have a novel phenotype. The age increased with increasing severity, and the proportion of females in group III was significantly higher than that of the other two groups (p=0.001). The prevalence of laser in situ keratomileusis (LASIK) increased in group III (p=0.001), and the incidence of pterygium increased in group I compared with the other two groups (p=0.025). CONCLUSIONS: ACD was aggravated with age, while pterygium and LASIK altered the natural course of ACD.
Classification* ; Corneal Opacity ; DNA ; Female ; Humans ; Incidence ; Keratomileusis, Laser In Situ ; Phenotype ; Photography ; Prevalence ; Pterygium

Purpose: To compare the visual outcomes and corneal aberrations between wavefront-optimized (WFO) and corneal wavefront-guided (WFG) photorefractive keratectomy (PRK) in low to moderate myopia. Methods: Twenty-seven eyes treated with WFO and 29 eyes treated with WFG PRK using a Schwind Amaris 750S Excimer laser were included after 6 months of postoperative follow-up. Uncorrected distance visual acuity, corrected distance visual acuity, refractive errors, corneal higher-order aberrations (HOA) and corneal thickness obtained using a Scheimpflug system, and central ablation depth and volume were evaluated during the preoperative period and again at the postoperative 6-month visits. Results: Postoperatively, uncorrected distance visual acuity, corrected distance visual acuity, manifest spherical equivalent, and refractive astigmatism were improved in both groups, and there was no statistically significant difference between the two groups. There was no significant difference in safety, efficacy, or predictability of the refractive outcome. Postoperative total corneal HOA root mean square (RMS), coma RMS, and spherical aberration were significantly increased in both groups. Among these, only spherical aberration showed a significant difference between the two groups, with greater increase in the WFO group at 6 months postoperatively. The changes in corneal HOA RMS and spherical aberration were smaller in the WFG group, and this benefit was marked in eyes with high HOA RMS (≥0.4 μm) and spherical aberration (≥0.2 μm). Even though ablation volume in the WFG group was much larger than that of the WFO group, there was no significant difference in postoperative central and peripheral corneal thickness between the two groups. Conclusions Both WFO and WFG PRK using a Schwind Amaris 750S laser for low to moderate myopia were safe and effective at improving visual and refractive outcomes. However, WFG PRK induced fewer spherical aberrations than WFO PRK and may be more advantageous for eyes with high HOA root mean square or spherical aberration.

Adenocarcinoma of small intestine is rare disease, but its incidence of iluem is the least of small intestinal adenocarcinoma. Its rarity and vague symptoms results in delayed diagnosis, treatment and poor prognosis, Recently we experienced a 65 years old man of ileal adenocarcinoma with liver metastasis, which does not obstuct intestinal lumen, We treat the metastatic tumor with chemoembolization(lipiodol and doxorubicin) through the hepatic artery and so we report the case with review of literature.
Adenocarcinoma ; Aged ; Delayed Diagnosis ; Hepatic Artery ; Humans ; Incidence ; Intestine, Small ; Liver ; Neoplasm Metastasis* ; Prognosis ; Rare Diseases

A 60-year-old man with bilateral corneal opacity underwent cataract extraction surgery involving the use of a limbal relaxing incision in his left eye. He had lower lid ectropion and lagophthalmos in both eyes. Eleven days after the surgery, a slit-lamp examination revealed a neurotrophic corneal ulcer with a punch-out epithelial defect and rolled edges at the center of the pre-existing corneal opacity. The patient was treated with sodium hyaluronate, autologous serum, and oral doxycycline. Six weeks after the surgery an improvement in corneal sensation was observed and the neurotrophic corneal ulcer subsequently healed over the course of one year. In this report, we present a case of neurotrophic keratitis that occurred after performing cataract surgery concurrent with a limbal relaxing incision. As such, we suggest that limbal relaxing incisions should be performed cautiously in patients with causative risk factors for corneal hypesthesia.
Cataract Extraction/*adverse effects/*methods ; Corneal Diseases/etiology ; Corneal Ulcer/*etiology/*pathology/physiopathology ; Humans ; Hypesthesia/etiology ; Limbus Corneae/*surgery ; Male ; Middle Aged ; Ophthalmologic Surgical Procedures/*adverse effects ; Phacoemulsification ; Wound Healing

PURPOSE: To determine whether insulin-like growth factor (IGF-1) affects transforming growth factor (TGF-beta)- mediated fibronectin accumulation in human lens epithelial cell line (HLE B-3) cells. MATERIALS AND METHODS: HLE B-3 cells were incubated for 24 hours with TGF-beta (10ng/ mL), IGF-1 (10ng/mL), or both. Expression of the fibronectin gene was determined using a real-time reverse transcriptase-polymerase chain reaction (RT-PCR). Fibronectin levels were examined using western blot analysis and immunofluorescence staining. RESULTS: Expression of the fibronectin gene was not different between the TGF-beta/IGF-1 treated group and the TGF-beta treated group (p= 0.116). However, western blot analysis demonstrated decreased fibronectin levels in human lens epithelial cells treated with TGF-beta and IGF-1 compared to those treated with TGF-beta only (p < 0.01). Immunofluorescence staining disclosed inhibition of TGF-beta-induced fibronectin in the presence of IGF-1. CONCLUSION: This study suggests that IGF-1 counteracts TGF-beta-mediated fibronectin accumulation in human lens epithelial cells.
Cell Line ; Epithelial Cells/cytology/*drug effects/metabolism ; Fibronectins/*genetics/metabolism ; Fluorescent Antibody Technique ; Gene Expression Regulation/drug effects ; Humans ; Insulin-Like Growth Factor I/*pharmacology ; Lens, Crystalline/cytology ; Reverse Transcriptase Polymerase Chain Reaction ; Transforming Growth Factor beta/*pharmacology

PURPOSE: To evaluate tear eosinophil cationic protein (ECP) as a severity marker for atopic keratoconjunctivitis (AKC) and seasonal/perennial allergic conjunctivitis (SAC/PAC). METHODS: Tear ECP levels were measured by chemiluminescent immunometric assay in 7 eyes of 7 patients with AKC, 13 eyes of 13 patients with SAC/PAC, and 10 eyes of 10 healthy control subjects. All AKC and SAC/PAC patients underwent conjunctival injection and papillary formation grading. Tear ECP levels were investigated with reference to the clinical parameters of allergic conjunctivitis (papillary formation and conjunctival injection scoring). RESULTS: Tear ECP levels in patients with AKC were significantly higher than those in patients with SAC/PAC and in control subjects (p = 0.012 and p = 0.003, respectively). The number of patients with papillary formation scores of 2-3 was significantly higher in the AKC group than in the SAC/PAC group (p = 0.016). The number of patients with conjunctival injection scores of 2-3 did not significantly differ between the AKC and SAC/PAC groups (p = 0.128). All AKC patients obtained papillary formation scores of 2-3, and tear ECP levels in patients with conjunctival injection scores of 2-3 were significantly higher than in patients with scores of 0-1 in the AKC group (p < 0.001). In the SAC/PAC group, tear ECP levels in patients with papillary formation scores of 2-3 were significantly higher than in patients with scores of 0-1 (p = 0.046). CONCLUSIONS: This study suggests that tear ECP was a useful marker to diagnose and assess the severity of disease in patients with AKC as well as SAC/PAC. It would be useful to monitor therapeutic outcome in allergic conjunctivitis.
Conjunctivitis, Allergic ; Eosinophil Cationic Protein* ; Humans ; Keratoconjunctivitis*

PURPOSE: To evaluate the therapeutic effects of 0.03% tacrolimus eye drops on dry eye associated with chronic ocular graft-versus-host disease (GVHD). METHODS: This study included 24 eyes of 12 patients with refractory dry eye associated with chronic ocular GVHD who were unresponsive to topical steroid and 0.05% topical cyclosporine. The topical steroid and cyclosporine were discontinued for 2 weeks before treatment and 0.03% tacrolimus eye drops were applied twice a day for 1 month. Artificial tears, ointment, and lid cleanser were used in the same manner before initiating tacrolimus treatment. Ocular staining score, tear break-up time, ocular surface disease index (OSDI), and Schirmer I test score were evaluated. RESULTS: Ocular staining score, tear break-up time, and OSDI improved with statistical significance (p < 0.05) after 28 days of treatment. Schirmer I test did not show statistical improvement after treatment. CONCLUSIONS: The use of 0.03% tacrolimus eye drops were effective for refractory dry eye associated with chronic ocular GVHD.
Cyclosporine ; Graft vs Host Disease* ; Humans ; Ophthalmic Solutions* ; Tacrolimus* ; Tears