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 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 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 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

PURPOSE: Vogt's striae are defined as vertical stress lines that occur deep in the affected stroma of keratoconus. The purpose of this study was to report a case of horizontal Vogt's striae in keratoconus. METHODS: A 21-year-old male without history of trauma or contact lens wearing presented with decreased visual acuity in both eyes. He complained of chronic habitual eye rubbing due to ocular itching. The best corrected visual acuity of his right eye was 20/30 and was 20/40 in his left eye. A scissoring reflex was seen in both eyes upon retinoscopic examination. On slit lamp examination, multiple and fine parallel horizontal lines in the deep stroma and Descemet's membrane were noted in his left eye. Corneal topography showed bilateral inferotemporal steepening with corneal thinning. The horizontal lines, which disappear after pressing the eyeball, are thought to be stress lines resembling Vogt's striae. RESULTS: To our knowledge, there have been no reports demonstrating horizontal stress lines resembling Vogt's striae in keratoconus patients. Here, we report a case of horizontal Vogt's striae in a keratoconus patient.
Corneal Topography ; Descemet Membrane ; Humans ; Keratoconus* ; Male ; Pruritus ; Reflex ; Visual Acuity ; Young Adult

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: In this study evaluated clinical outcomes and higher-order aberrations in patients with implanted Tecnis ZCT toric intraocular lens (IOL) (Abbott Medical Optics Inc., Santa Ana, CA, USA) and the Zeiss AT TORBI toric IOL (Carl Zeiss Meditec AG, Jena, Germany) in eyes with low to moderate corneal astigmatism. METHODS: We conducted a retrospective study of 32 consecutive eyes of 26 patients with a visually significant cataract and moderate corneal astigmatism (higher than 1.25 diopter [D] and lower than 4.5 D) undergoing cataract surgery with implantation of the aspheric Tecnis ZCT toric IOL (Abbott Medical Optics Inc.) and the Zeiss AT TORBI toric IOL (Carl Zeiss Meditec AG). Phacoemulsification was performed by the same experienced surgeon using 2.2 mm temporal incision. Visual, refractive and aberrometric changes were evaluated during a 3-month follow-up. Power vector analysis of Cartesian astigmatism (J0) and oblique astigmatism (J45) was performed. RESULTS: At the 3-month follow-up, corrected distance visual acuity (CDVA) and residual astigmatism showed no statistically significant differences between groups (p = 0.203 and p = 0.364, respectively). Pre- and postoperative J0 were 0.71 +/- 0.84 and 0.05 +/- 0.39 in the Tecnis Toric group and, 0.88 +/- 1.27 and -0.02 +/- 0.16 in the AT TORBI group, respectively, which showed statistically significant differences (p = 0.029 and p = 0.032, respectively). Pre- and post-operative differences of J0 and J45 were not statistically significant (p = 0.234 and p = 0.603, respectively). No eye had IOL rotation > or =10degrees. Ocular aberrometry values were statistically significantly differenct between the groups, except for spherical aberration, which was higher in the AT TORBI group (p = 0.0047). CONCLUSIONS: Both IOLs showed good postoperative uncorrected distance visual acuity, CDVA and refractive results in this study. Rotational stability was excellent for both IOLs until the 3-month follow-up.
Aberrometry ; Astigmatism ; Cataract ; Follow-Up Studies ; Humans ; Lenses, Intraocular* ; Phacoemulsification ; Retrospective Studies ; Visual Acuity

PURPOSE: Heptaplatin, a new platinum analog, has favorable toxicity profiles and antitumor activity, comparable to those of cisplatin, in the treatment of gastric cancer. This study was designed to define the maximum tolerated dose (MTD), dose-limiting toxicity (DLT) and pharmacokinetics of heptaplatin administered by an intraperitoneal route in patients with resected advanced gastric cancer. MATERIALS AND METHODS: Seventeen patients with resected advanced gastric cancer were entered onto the study. After completion of a curative resection and an astomosis, heptaplatin was administered intraperiton eally in one liter of 5% dextrose solution. The starting heptaplatin dose was 400 mg/m2 of the body surface area, and was escalated in 200 mg/m2 increments, to cohorts of three patients. A pharmacokinetic analysis was carried out to determine the total and ultrafiltratable platinum concentrations in the plasma, peritoneal fluid, and urine. RESULTS: Patients were unable to tolerate a 1, 000 mg/m2 dose level, and at 800 mg/m2, reVersible Grade III toxic ities, including elevated creatinine, proteinuria, hypon- atremia, abdominal pain, and intraabdominal bleeding were noted. No significant toxicity was noted up to a 600 mg/m2 dose level. The ratio of the peak peritoneal to peak plasma drug concentrations were 19.4, 16.6 and 22.8 at doses of 400 mg/m2, 600 mg/m2 and 800 mg/m2, respectively. The pharmacological advantage, expressed as the peritoneal to plasma AUC ratio ranged from 4.3 to 7.0. CONCLUSION: Heptaplatin can be delivered by an intra peritoneal route, with both an acceptable toxicity profile and a major pharmacokinetic advantage for cavity exposure. The MTD of intraperitoneal heptaplatin was 800 mg/m2. The major DLTs were nephrotoxicity and intraabdominal bleeding. The recommended starting dose for a subsequent study would be 600 mg/m2.
Abdominal Pain ; Area Under Curve ; Ascitic Fluid ; Body Surface Area ; Cisplatin ; Cohort Studies ; Creatinine ; Glucose ; Hemorrhage ; Humans ; Maximum Tolerated Dose ; Pharmacokinetics ; Plasma ; Platinum ; Proteinuria ; Stomach Neoplasms*