• Clinical and Experimental Pediatrics
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• v.51 no.11
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• pp.1236-1240
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• 2008

Smith-Lemli-Opitz syndrome (SLOS) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. The SLOS phenotypic spectrum ranges from a mild disorder with behavioral and learning problems to a lethal disease characterized by multiple malformations. Here, we describe a newborn male with ambiguous genitalia who was diagnosed to have type II SLOS during the neonatal period. A clinical examination revealed low levels of unconjugated estriol in the maternal serum, and a variety of fetal ultrasound anomalies, including prenatal growth retardation. After birth, the infant was diagnosed to have congenital heart disease (Tetralogy of Fallot with severe pulmonary artery stenosis), cleft lip and palate, micrognathia, postaxial polydactyly, ambiguous genitalia, and cataracts. Clinical investigation revealed extremely low plasma cholesterol levels and the presence of mutation (homozygote of p.Arg352Gln) in the DHCR7 gene. The patient underwent palliative heart surgery (to widen the pulmonary artery) and received intravenous lipid supplementation. Cholesterol levels increased slightly, but not to normal values. The patient died from cardiopulmonary failure and sepsis 72 days after birth. This report provides the first description of a Korean patient with SLOS confirmed by verification of DHCR7 gene mutation and illustrates the need for early recognition and appropriate diagnosis of this disease.

• Journal of the korean academy of Pediatric Dentistry
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• v.31 no.2
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• pp.262-266
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• 2004

The parathyroid hormone plays a major role in the metabolism of calcium and phosphorus. In hypoparathyroidism the parathyroid glands are atrophied or absent associated with autoantibodies against parathyroid tissue. Pseudohypoparathyroidism is a metabolic disease caused by the disturbance in peripheral action of parathormone, but parathormone level is normal. In general, patients with pseudohypoparathyroidism have short stature, round face, brachydactylia, obesity, mental retardation, cataracts & ectopic calcifications on soft tissues. Dental manifestations are enamel hypoplasia, delayed eruption, blunting of root apex, hypodontia, pulp calcification, thickened lamina dura, excessive caries & malocclusion. In this case, intraoral examination showed enamel hypoplasia on the erupted permanent teeth & hypermobility on the remaining deciduous teeth. From the radiographic view severe dental anomalies were observed on canines and shortening and blunting of root apex was observed on mandibular incisors. Pathologic root resorption was also observed on deciduous teeth.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.2
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• pp.82-86
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• 2016

Lowe syndrome is X-linked gene disorder, characterized by cataracts, renal dysfunction and brain abnormalities. Oral healthcare of young patients with Lowe syndrome could be easily neglected due to the uncooperative behavior or other systemic condition of the child. We are presenting a case of successful treatment under general anesthesia with uncooperative child with Lowe syndrome. A 3-year old boy with Lowe syndrome visited Seoul National University Dental Hospital for multiple caries. He had been suffering from congenital cataract, medullary nephrocalcinosis and hypotonia. Multiple caries were observed from clinical and radiographic examination. Concerning behavior management problem and possibility of aspiration due to hypotonia, dental treatment under general anesthesia was planned. Left upper primary first molar was extracted to prevent further infection. Other teeth were treated with Stainless steel crown or composite resin restoration based upon the extent and the severity of dental caries. Under general anesthesia, dental procedure was carried out successfully and safely. Considering uncooperative behavior and other medical conditions of the patient, general anesthesia could be effective. Home oral care and periodic visit to dental clinic should be emphasized to the caregiver of patient with Lowe syndrome, considering the susceptibility of dental caries and other oral manifestation.

• Quality Improvement in Health Care
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• v.5 no.1
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• pp.128-138
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• 1998

Background : There is increased recognition that rigorous approach to functional assessment will complement the assessment of clinical status. This study is to develop the appropriate visual function index in Korean patients with cataracts by the assessment of the reliability, validity of visual function indexes including VF-14. Methods : An prospective study was performed with 92 patients who had undergone either one eye or both eye cataract surgery by 3 ophthalmologists practicing at a university hospital. Patients were interviewed. and clinical data were obtained. Doctors were questioned with self-entered questionnaire forms. Medical record was examined to understand surgery process. The survey was conducted at 1-2 days before cataract surgery. Results : We used following measures : 7 visual function indexes, global measures of patients' trouble and satisfaction with vision, and best-corrected visual acuity(VA) in each eye. 7 visual function indexes showed a high internal consistency reliability (Cronbach's alpha coefficients ${\geq}$ 0.86). The better visual acuity(operated eye, better eye), the higher patient satisfaction with vision, the lower symptom score, the lower patient trouble with vision was correlated with preoperative visual function index scores. Among 7 indexes, VF-12 with the exclusion of 2 items drivings from VF-14 is a high Cronbach's alpha coefficient and correlation coefficient and the highest $R^2$. Conclusion : We conclude that VF-12 is reliable and valid in Korea. So we suggest that in Korea, all items of VF-14, the visual function index, which is in use internationally, ought to be surveyed and VF-12 which has been excluded by 2 items of drivings from VF-14 ought to be used for analysis.

• Journal of the Korean Society of Radiology
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• v.13 no.2
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• pp.147-151
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• 2019

In chest and abdomen CT scans, the radiation exposure doses by scattering lines were measured at the eyeball and thyroid. Radiation exposure was investigated by using shielding devices. The chest and abdomen CT scan protocols used in the real examination were applied to measure and compare radiation doses before and after the use of shielding devices at the eyeball and the thyroid. The radiaton doses were measured with OSLD dosimeters. Barium, tungsten sheets, goggles and neck shields were used to protect the scattered X-ray. The chest CT scans showed respectively 3.01 mSv and 6.21 mSv at the eyeball and the thyroid by the scattered X-ray. The abdomen CT scans showed 0.55 mSv and 3.22 mSv for the eyeball and the thyroid respectively. Barium and tungsten sheets had 11% to 13% protection rates at the eyeball and the thyroid for chest CT scan, and 34% to 49% reduction in radiation dose for the abdomen CT scan. Because of the significant radiation dose, which causes cataracts and thyroid cancer by the repeated and continuous radiation exposure, for the chest and the abdomen CT scans, it is required to use shielding devices to reduce radiation dose for examinations.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.35-39
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• 2019

Oculo-cerebro-renal syndrome, known as Lowe syndrome, is an X-linked gene disorder characterized by congenital cataracts, brain abnormalities and renal dysfunction. Tooth crowding, taurodontism, delayed eruption in the permanent dentition and over-retained primary teeth with ectopic eruption of the permanent teeth have been reported as dental findings. Because of the high incidence of poor cooperation, patients with Lowe syndrome have difficulties in maintaining good oral hygiene, which may require dental treatment. We present a case of dental treatment for the uncooperative child with Lowe syndrome under general anesthesia. A 4-year-old, 11.2 kg boy with Lowe syndrome visited Seoul National University Dental Hospital for gingival swelling. The patient had multiple caries requiring dental treatment. Because of his past history of malignant hyperthermia during inhalation induction, anesthesia was induced and maintained with total intravenous anesthesia (TIVA) after medical consultation. Dental restorative treatments were successfully performed and no complications were observed during and after the procedure. Safe and effective dental management of the patients with Lowe syndrome could be performed with the help of general anesthesia and careful monitoring.

• Clinical and Experimental Reproductive Medicine
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• v.37 no.2
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• pp.89-98
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• 2010

Sex and its tropic hormones influence the lacrimal system, corneal anatomy and disease, aqueous humor dynamics and glaucoma, crystalline lens and cataract, and retinal disease. Dry eye occurs especially frequently during pregnancy, oral contraceptive use, and after menopause, during which androgen levels decrease. Androgen control development, differentiation, and lipid production of sebaceous glands throughout the body, and androgen deficiency also leads to meibomian gland dysfunction and evaporative dry eye. On the other hand, estrogen causes a reduction in size, activity, and lipid production of sebaceous glands. Sex and its tropic hormones also influence the corneal anatomy and disease, and corneal thickening occurred on the second day of the menstrual cycle and around the time of ovulation and appeared to be related to estrogen levels. Fuchs' dystrophy is more commonly seen in postmenopausal women than men and may be linked to hormonal changes that occur with aging. In addition, overexpression of estrogen and progesterone receptors in the conjunctiva of vernal keratoconjunctivitis patients. Serum progesterone levels also may be associated with intraocular pressure especially in pregnant women, and for the women. For women with cataracts, hormone levels were typical of menopause, and there was a significant negative correlation between estradiol and follicular stimulating hormone levels. In addition, serum testosterone levels are associated with the development of diabetic retinopathy. Although the role of sex hormones on the eye is largely unknown, and the results should be interpreted with caution until replicated, the functions of sex hormones in ocular disease remains to be investigated, because they may be involved in structure and function of the ocular components, which are important in the pathogenesis of ocular disease.

• Journal of The Korean Ophthalmological Society
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• v.59 no.11
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• pp.1017-1023
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• 2018

Purpose: A recently introduced phacoemulsification system, the WhiteStar $Signature^{(R)}$ PRO, has demonstrated improved nucleus followability and cutting efficiency via an improved pump regulator with a higher reaction response and an automatic occlusion sensing system. In this study, we compared various phacoemulsification parameters between the new system and an older version of the device. Methods: A total of 80 eyes of 68 patients with cataracts who had undergone phacoemulsification by a single surgeon were included in this study. Forty eyes of patients underwent phacoemulsification using the older $Signature^{(R)}$ system (WhiteStar); these patients were classified as the control group. Another 40 eyes of patients underwent phacoemulsification with the newer enhanced system, the WhiteStar $Signature^{(R)}$ PRO; these patients were assigned to the experimental group. During the operation, operative parameters, including the effective phaco time (parameter of effective phaco time with a specific coefficient for the transversal movement expressed in seconds, EFX), ultrasound time (seconds [s]), effective phacoemulsification time (EPT, s), average phacoemulsification power (AVG, %), and balanced salt solution usage, were measured to determine the performance enhancement offered by the updated system. Central corneal thickness was measured before and after surgery to compare corneal edema. The relationships between the two groups were analyzed using an independent t-test. Results: The Signature $PRO^{(R)}$ system showed a lower EFX (p < 0.001), a shorter EPT (p < 0.001), and a smaller AVG (p < 0.001). Postoperative corneal thickness did not differ significantly between the two groups. Conclusions: Comparing the efficacy of the improved reaction speed of the device and automatic occlusion sensing system in performing phacoemulsification, the updated Signature $PRO^{(R)}$ system demonstrated superior followability and cutting efficiency regardless of nuclear cataract hardness.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Radiation Oncology Journal
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• v.20 no.2
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• pp.139-146
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• 2002

Purpose : This study evaluated the treatment outcomes, patterns of failure, and treatment related complications of primary lymphoma patients who received definitive radiation therapy. Materials and Methods : A retrospective analysis was undertaken for 31 patients with primary orbital lymphoma at the Asan Medical Center between February 1991 and April 2001. There were 18 males and 13 females with ages ranging from 3 to 73 years (median, 44 years). The involved sites were 9 conjunctivae, 12 eyelids and 10 other orbits. The histological types were 28 MALT lymphomas (low-grade B-cell lymphoma of mucosa-associated lymphoid tissue type), 1 diffuse large B-cell lymphoma, 1 anaplastic large cell lymphoma and 1 lymphoblastic lymphoma. The Ann Arbor stages were all IE $(100\%)$. Ann Arbor stage III or IV patients were excluded from this study, Bilateral orbital involvement occurred in 6 cases. Radiation therapy was given with one anterior port of high energy electrons $(6\~16\;MeV)$ for the lesions located at the anterior structures like the conjunctivae or eyelids. Lesions with a posterior extension or other orbital lesions were treated with 4 or 6 MeV photons with appropriately arranged portals. In particular, lens blocks composed of lead alloy were used in conjunctival or eyelid lesions. Twelve patients received chemotherapy. The median follow-up period was 53 months. Results : The 5-year overall, cause-specific, and disease-free survival was $91\%,\;96\%,\;and\;80\%$, respectively. The complete response rate 6 months after radiation therapy was $100\%$. Local recurrences were observed in 2 patients at 16 and 18 months after completion of radiation treatment. They were salvaged with additional radiation therapy. Two patients developed distant metastases. A MALT lymphoma patient with a lung relapse was successfully salvaged with radiotherapy, but the other lymphoblastic lymphoma patient with bone marrow relapse expired. There were no severe complications but 5 patients developed radiation-induced cataracts and 2 patients developed dry eye. Conclusion : Most primary orbital lymphomas consisted of MALT lymphomas. Radiation therapy was a successful treatment modality for orbital lymphoma without any severe complications. In cases of local relapses, radiation therapy is also a very successful salvage treatment modality.