• Investigative Magnetic Resonance Imaging
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• v.21 no.1
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• pp.34-37
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• 2017

A 45-year-old female visited our clinic due to sudden right leg weakness and sensory loss. Brain and spinal cord magnetic resonance imaging showed widespread cavernous malformations. Cavernous malformation in L1 spine area was accompanied by a subacute stage hematoma with perilesional edema. Sensory loss subsided after corticosteroid therapy. Usually, neurologic deficit by spinal cavernous malformation appears more chronically in the adults compared to children. Treatment options are difficult to establish in a case with multiple cavernous malformations. Identifying hemorrhagic lesions by extensive neuroimaging evaluation could be helpful to select the treatment target for cavernous malformation.

• Korean Journal of Environmental Biology
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• v.22 no.2
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• pp.300-307
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• 2004

The chloroacetanilide herbicide alachlor (2-chloro-2', 6'-diethyl-N-(methoxymethyl)-acetanilide) and organochlorine insecticide endosulfan (6, 7, 8, 9, 10, 10-hexachloro-l, 5, 5a, 6, 9, 9a-hexahydro-6, 9-methano-2, 3, 4-benzodioxathiepin-3-oxide)are the highly toxic agricultural chemicals. Bombina orientalis is one of the most common amphibians in the world and comprises a large proportion of their total number. B. orientalis spawns in the farming regions at Spring when the massive application of agricultural chemicals occurs. These chemicals in farmland may threaten the reproduction of this frog. Therefore, we examined the embryotoxic and survival effects of alachlor and endosulfan at various concentrations in B. orientalis embryos. The survival rates of embryos at 312h post fertilization treated with alachlor and endosulfan were decreased with concentration dependent manner. Also, developmental malformations appeared by alachlor and endosulfan in B. orientalis embryos. The malformations showed in order of frequency with bent trunk, tail dysplasia, bent tail, thick-set body and ventral blister in alachlor treated embryos. The exposure of endosulfan produced 7 types of severe external malformations with tail dysplasia, pectoral blister, bent trunk, bent tail, cephalic dysplasia, ventral blister, and thick-set body. Following exposure to alachlor and endosulfan the types of malformations were diverse, suggesting these chemicals target multiple events in embryonic and larval development in this species. These results suggested that alachlor and endosulfan were detrimental for survival and development of B. orientalis embryos.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.18 no.1
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• pp.5-12
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• 1988

Several cases of jaw cyst-basal cell nevus-bifid rib syndrome are presented. This syndrome consists principally of multiple jaw cysts, basal cell nevi, and bifid ribs but no one component is present in all patients. The purpose of this paper is to review the multiple characteristics of this syndrome and present three cases in a family and additional 4 cases. The many malformations associated with the syndrome have variable expressivity. In the cases, multiple jaw cysts, palmar and plantar pittings, bridging of sella, temporoparietal bossing, hypertelorism, cleft palate, and dystopia canthorum have been observed.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.34 no.6
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• pp.488-493
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• 2012

Hemangioma and vascular malformation are the most common benign tumors that are caused by congenitally or traumatic events. Theses tumors represent approximately 1/3~1/4 of all hemangiomas and vascular malformations in the head and neck. There are many forms of treatment for hemangioma and vascular malformation including closed observation, surgery, radiotherapy, laser therapy, steroid therapy, compression, embolization, and sclerotherapy. Ethanolamine oleate is an unsaturated fatty acid salt that has been used as a sclerosing agent because of its excellent thrombosing properties. This paper presents 1 case of intraoral multiple venous malformations treatment with 1.25% ethanolamine oleate (3.6~9.6 mg dose) intralesionally injected for 6 to 14 weeks over 2 week intervals. After the sclerotherapy, lesions almost completely disappeared without side effects. In conclusion, sclerotherapy using ethanolamine oleate is very effective against venous malformations, and sufficiently provides alternative support for surgical and other methods.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.48-53
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• 2014

Smith-Lemli-Opitz syndrome (SLO) 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. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

• Tuberculosis and Respiratory Diseases
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• v.78 no.4
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• pp.408-411
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• 2015

Pulmonary arteriovenous malformations (AVMs) are caused by abnormal vascular communications between the pulmonary arteries and pulmonary veins, which lead to the blood bypassing the normal pulmonary capillary beds. Pulmonary AVMs result in right-to-left shunts, resulting in hypoxemia, cyanosis, and dyspnea. Clinical signs and symptoms vary depending on the size, number, and flow of the AVMs. Transcatheter embolization is the treatment of choice for pulmonary AVMs. However, this method can fail if the AVM is large or has multiple complex feeding arteries. Surgical resection is necessary in those kind of cases. Here, we report the case of a patient with a 6-cm pulmonary AVM with multiple feeding arteries that was successfully treated by repeated coil embolization without surgery.

• Journal of the Korean Society of Radiology
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• v.84 no.2
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• pp.489-497
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• 2023

Intracranial dural arteriovenous fistula (DAVF) is an abnormal arteriovenous shunt accounting for approximately 10%-15% of all intracranial vascular malformations. Most intracranial DAVFs are solitary, but multiple lesions at different sites can rarely occur. Most intracranial multiple DAVFs are synchronous types, whereas metachronous lesions are relatively uncommon. Herein, we report a rare case of metachronous DAVF occurring after the embolization of a preceding lesion in a 75-year-old female.

• Korean Journal of Cleft Lip And Palate
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• v.11 no.2
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• pp.65-70
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• 2008

Cleft lip and/or palate are common birth defects in humans and the causes including multiple genetic and environmental factors are complex. Combinations of genetic, biochemical, and embryological approaches in the laboratory mice are used to investigate the molecular mechanisms underlying normal craniofacial development and the congenital craniofacial malformations including cleft lip and/or palate. Both forward and reverse genetic approaches are used. The forward genetic approach involves identification of causative genes and molecular pathways disrupted by uncharacterized mutations that cause craniofacial malformations including cleft lip and/or cleft palate. The reverse genetic approach involves generation and analyses of mice carrying null or conditional mutations using the Cre-loxP mediated gene targeting techniques.

• Neonatal Medicine
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• v.15 no.1
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• pp.89-93
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• 2008

Duplication of chromosome 12p has been rarely reported and are thought to be associated with congenital malformations and impaired development. We report a baby boy born with multiple dysmorphic features and congenital malformations. His karyotype was 46,XY, add(12)(p13.3). He has suffered from intrauterine growth restriction at birth. He showed abnormal cranio-facial findings such as microcephaly, hypognathia, clepft palate and low set ear. He presented with absence of uvula, micropenis and rocker bottom features of both feet, congenital heart disease, poor corticomedullary differentiation of kidney, and sensorineuronal hearing loss. We have been follow up him for seizure disorder and delayed development at out patient department.

• 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.