• Clinical and Experimental Pediatrics
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• 제49권12호
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• pp.1363-1366
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• 2006

신생아에서 흉강내 대동맥류는 드물며, 말판 증후군, 대동맥 축착, 대동맥 판막 협착, 동맥염, 터너 증후군, 결절성 경화증 등과 연관되어 보고된 바 있다. 신생아에서 발견되는 ductus arteriosus aneurysm은 매우 드문 질환이나, 대동맥 파열이 유발 될 수 있는 기형이다. 병인으로 대동맥 쪽에 있는 동맥관의 폐쇄 지연, 선천적으로 동맥관 벽이 약한 경우, 자궁내에서 동맥관으로 혈류 증가, 자궁내에서 동맥관의 협착 등이 있으나 명확하지 않은 상태이다. Ductus arteriosus aneurysm은 흉부 방사선, 심초음파, 3차원 전산화단층촬영, 자기 공명영상 검사 등으로 진단할 수 있다. 치료는 인도메사신의 투여, 수술적 절재 등의 방법이 있으며, 자연 소실되는 경우도 있다. 저자들은 태변흡인증후군 환아에서 우연히 발견된 ductus arteriosus aneurysm이 생후 4주 뒤 자연 소실되는 1례를 경험하였기에 보고하는 바이다.

• Journal of Chest Surgery
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• 제32권9호
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• pp.827-830
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• 1999

선천성 좌심방이류는 매우 드물게 보는 선천성 심질환으로서, 태생기의 심장 혈성과정에서 좌심방벽이 박 약할 때에 발생되는 것으로 추측하고 있다. 임상적으로 환자들은 별다른 증상 없이 지내다가 우연한 기 맙\ulcorner진단이 되는 경우가 흔하지만, 상실성 부정맥과 전신성 혈전색전증의 소견을 보이는 예들도 있다. 진단이 되 면 곧 수술을 시행하여야 하는데, 그 이유는 혈전색전증이 발생할 가능성이 있기 때문이다. 경북대학교병원 흉부외과에서는 술전에 좌측심낭막의 부분결손에 따른 좌심방탈출증으로 추정하여 정중흉골절개하에 수술 을 시행하였던 생후 13개월된 여아에서 심낭막은 온전하였던 반면에 선천성 좌심방이류가 있음이 확인되어 이를 절제하는 수술을 시행하였다. 환아는 술후에 양호한 경과를 보였다.

• Advances in pediatric surgery
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• 제5권2호
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• pp.146-151
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• 1999

Neurocristopathy originates from aberrant development of the neural crest by genetic abnormality. Dysgenetic or neoplastic neurocristopathy mayor may not combine at one or more organs. Congenital central hypoventilation syndrome (Ondine's curse) is characterized by the respiratory depression during sleep, although showing normal ventilation while awake, because the baby does not responde to hypercapnea or hypoxia. One newborn girl, full-term, 3,020 g of birth weight with neurocristopathy is reported. It showed poor respiration at birth, and temporary Improvement with oxygen and respiratory stimulations. Abdomen was distended. Abdominal x-ray revealed small bowel obstruction and calcified opacity at the right lower quadrant. Because transitional zone was noticed at the distal jejunum during laparotomy, jejunostomy was performed. Several times trial of extubation have failed becaused of the repeated apneas. Brain sonography and echocardiogram were normal. The patient died of sepsis at 37 days of age. Para-aortic ganglioneuroblastoma was found at autopsy. In this case, congenital central hypoventilation syndrome, Hirschsprung's disease and congenital ganglioneuroblastoma are combined as a neurocristopathy.

• Journal of Korean Neurosurgical Society
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• 제58권5호
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• pp.454-461
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• 2015

Objective : In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods : A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results : Tonsillar herniation length was measured $9.09{\pm}3.39mm$ below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion : Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition.

• Clinical and Experimental Pediatrics
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• 제50권10호
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• pp.1024-1029
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• 2007

Costello 증후군은 특징적 얼굴 형태(coarse face), 발달 장애, 지능 저하, 성장 지연, 신경학적 이상, 심근증, 피부 병변, 수유 장애, 상대적 대두증, 소관절의 과신전, 고형종 발생 증가 등을 특징으로 하는 드문 증후군으로 1977년 Costello에 의해 처음으로 보고되었으며, 이후 전세계적으로 약 100례 이상이 보고되었다. 최근 Costello 증후군은 HRAS 유전자 내의 glycine 12 또는 13 codon을 침범하는 de novo mutation에 의해 발생하는 것으로 알려져 있다. 저자들은 특징적인 얼굴 형태와 지능 저하, 대두증, 손과 발의 과도한 주름, 비후성 심근증과 심방성 빈맥으로 특징지어지는 Costello 증후군으로 진단된 환아 3례를 경험하였기에 이를 보고하는 바이다.

• Journal of Chest Surgery
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• 제38권2호
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• pp.164-167
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• 2005

사엽성 대동맥판막은 매우 드문 선천적 기형의 하나로써 심한 대동맥판막페쇄부전의 한 원인으로 알려져 있다. 저자들은 사엽성 대동맥판막과 동반된 심한 대동맥판막폐쇄부전으로 수술을 받은 5명의 환자를 보고한다. 모든 환자들에서 수술 중에 진단이 가능하였다. 환자들 중 2명에서는 감염성 심내막염이 동반되었다. Hurwitz and Roberts 분류법상 2명은 d형, 2명은 a형, 그리고 1명은 c형이었다.

• Journal of Korean Neurosurgical Society
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• 제49권5호
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• pp.299-301
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• 2011

A case of a symptomatic spinal extradural meningeal cyst (SEMC) in Klippel-Trenaunay syndrome (KTS) is introduced. A 38-year-old woman presented with right L2 radiculopathy. She underwent operations for varicose veins in both her lower extremities. She had port-wine nevi on her trunk and extremities. The edematous change in both legs had waxed and waned. Magnetic resonance imaging showed an $11.8{\times}13$ mm extradural meningeal cyst growing through the intervertebral foramen in L2-3. Multiple meningeal cysts were located in the dorsal aspect of the spinal cord from T3 to T10. A $5.8{\times}6.2$ mm cyst was also found in left pleural cavity. The extradural meningeal cyst was completely excised and the preoperative symptom was improved. KTS is a congenital disorder due to a mesodermal abnormality, which may predispose the dura to weakness. The SEMC may occur through the dural defect or weakened point.

• 대한두개안면성형외과학회지
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• 제20권4호
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• pp.255-259
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• 2019

Craniofacial cleft is a rare disease, and has multiple variations with a wide spectrum of severity. Among several classification systems of craniofacial clefts, the Tessier classification is the most widely used because of its simplicity and treatment-oriented approach. We report the case of a Tessier number 3 cleft with wide soft tissue and skeletal defect that resulted in direct communication among the orbital, maxillary sinus, nasal, and oral cavities. We performed soft tissue reconstruction using the straight-line advanced release technique that was devised for unilateral cleft lip repair. The extension of the lateral mucosal and medial mucosal flaps, the turn over flap from the outward turning lower eyelid, and wide dissection around the orbicularis oris muscle enabled successful soft tissue reconstruction without complications. Through this case, we have proved that the straight-line advanced release technique can be applied to severe craniofacial cleft repair as well as unilateral cleft lip repair.

• Archives of Plastic Surgery
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• 제50권4호
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• pp.393-397
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• 2023

Constricted ear has a prevalence of 5.2 to 10% among ear abnormalities, and various surgical methods are suggested for treatment. We introduce a case of a constricted ear treated with a simple method using a novel concept cartilage graft and transposition flap, along with the well-known Mustardé suture, which is used for pediatric patients with mild to moderate constricted ears of Tanzer classification type IIA. A 10-year-old female patient visited the hospital complaining of an abnormality in the congenital right ear. Surgical approach was planned under the diagnosis of Tanzer classification type IIA constricted right ear. Posterior helix onlay graft and perichondrocutaneous transposition flap using excessive helical cartilage were performed along with the Mustardé suture. In the immediate postoperative period, ear contour was improved, and it was well-maintained without recurrence until 6 months' follow-up. In conclusion, the combination of Mustardé suture, and cartilage onlay graft and perichondrocutaneous transposition flap in the mild to moderate constricted ear would be a useful surgical option, producing aesthetically good results in a simple and effective method.

• 대한구순구개열학회지
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• 제7권1호
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• pp.35-46
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• 2004

The frequency of abnormality at birth is average 1-1.5%, and of these, cleft lip & palate is known to be the most frequent congenital abnormality, Cleft is considered to be due to multi-factorial heredity correlated with genetic and environmental factors, Cleft patients require the collaborative treatment with several medical departments, Clinics for Maxillo-Oral Disorders of Tohoku University Dental Hospital performs the total managements related to such as occlusion and language for the patients with congenital maxilla-facial abnormality, This study examined the patients with cleft lip and/or palate who came to the Clinics for Maxilla-Oral Disorders of Tohoku University Dental Hospital for the past 17 years from Jan. 1987 to Dec, 2002, and had the results as follows, 1. Annual mean number of patients The annual mean number of the patients for 17 years from Jan, 1987 to Dec, 2002 was 91 patients, ranging from 63 minimum to 116 maximum, 2, Gender and types of cleft There were 747(51%) males and 709(49%) females, with a male to female ratio 1,05:1. CLP was the most frequent cleft type as shown in 616 patients, and other patients manifested different complaints such as CL, CP, SMCP and MC in order. 3. The laterality in cleft type The lip cleft was frequently expressed orderly on left, right and both sides of CL patients while orderly being shown on left, both and right sides of CLP patients. Accordingly, lip cleft was most commonly found on the left side. 4. Address at first visit Of 1,456 subjects, 850(58.4%) patients were residing in Miyagi Prefecture, where this hospital is located. 5. Age at first visit 615(42.2%) patients came to the hospital at their age younger than 1 year old, comprising 282(19.4%) patients age younger than 2 months old and 333(22.9%) patients age between 2 month old and 1 year old. 6. Mother's age at birth For the mother's age at birth, 526(39.9%) patients were at the age of 25 to 30 years old, and 17(1.3%) patients were over 40 years old. 7. Birth weight 34.3%(443 patients) had a birth weight of 2500-3000gm and 56.0%(724 patients) had a 3000-4000gm. It was also found that 7.9%(102 patients) had a birth weight of less than 2500gm. 8. Familial expression The frequency of familial expression was 6.5%(94 patients).