• Journal of Chest Surgery
• /
• 제35권11호
• /
• pp.839-841
• /
• 2002

일반적으로 척추기형에 의한 기계적인 기도협착 환자의 경우 척추기형을 교정함으로써 증상을 완화시킬 수 있다. 그러나 흉곽기형의 원인이 되는 척추기형이 너무 심하여 교정이 어려울 경우에는 심한 기도협착으로 인해 호흡부전을 유발하고 치명적인 결과를 초래할 수 있다. 본 교실에서는 교정이 불가능할 정도의 심한 척추기형으로 인한 기도협착 환자에서 흉벽거상술을 통해 비교적 좋은 성적을 얻었기에 이에 문헌고찰과 함께 보고하고자 한다.

• Journal of Dental Anesthesia and Pain Medicine
• /
• 제19권5호
• /
• pp.307-312
• /
• 2019

Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae, a low hair line at the back of the head, restricted neck mobility, and other congenital anomalies. We report a 16-year-old young man with Klippel-Feil syndrome, Sprengel deformity of the right scapula, thoracic kyphoscoliosis, and mandibular prognathism with an anterior open bite. He was treated with orthodontic treatment and maxillofacial surgery. An anticipated difficult airway due to a short neck with restricted neck movements and extrinsic restrictive lung disease due to severe thoracic kyphoscoliosis increased his anesthesia risk. Due to his deviated nasal septum and contralateral inferior turbinate hypertrophy, we chose awake fiber optic orotracheal intubation followed by submental intubation. Considering the cervical vertebral fusion, he was carefully positioned during surgery to avoid potential spinal injury. He recovered well and his postoperative course was uneventful.

• Journal of Genetic Medicine
• /
• 제9권2호
• /
• pp.93-97
• /
• 2012

Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.

• Journal of Chest Surgery
• /
• 제44권5호
• /
• pp.383-386
• /
• 2011

A 46-year-old man presented with a lateral thoracic meningocele associated with cutaneous neurofibromatosis type I and kyphoscoliosis of the thoracic spine upon medical examination. In the majority of such cases, these meningoceles remain asymptomatic, but surgery is indicated when giant or symptomatic cysts are present. The large thoracic meningocele was successfully extirpated through the transthoracic approach in combination with lumbar puncture and cerebrospinal drainage for decompression of the cyst.

• Neonatal Medicine
• /
• 제17권1호
• /
• pp.141-146
• /
• 2010

영양위축성 형성이상은 드물게 발생하는 척추-골단-골중간 형성이상의 일종으로 진행성의 척추측후만증, 운동제한을 동반한 짧은 사지, 비교적 큰 손과 발, 큰 관절들의 비대 등을 특징으로 한다. 이 기형은 특징적인 임상소견과 방사선소견을 통해 진단할 수 있다. 이 기형은 양성 경과를 보인 다수의 증례들이 보고되어 왔고, 소수에서 치명적인 경과를 보이는 증례도 보고되었다. 저자들은 치사성의 영양위축성 형성이상 1례를 경험하였기에 보고하는 바이다.

• Journal of Chest Surgery
• /
• 제32권9호
• /
• pp.844-846
• /
• 1999

이물질(foreign body)의 만성적인 자극은 혈관에 지연성 손상을 가져올 수 있다. 척추 측후만증을 교정하고 자 약 14개월 전에 흉추에 CD 금속강과 나사못(Cotrel-Dubousset rods and screws)을 장치했던 환자에서 CD 나사못의 만성적인 자극으로 흉벽의 박동성 혈종을 합병한 가성 대동맥류가 발생하였다. 이 환자에서 가성 대동맥류가 발생한 하행대동맥 부위를 절제하고 인조혈관 대치술로 치료하였기에 보고한다.

• Journal of Interdisciplinary Genomics
• /
• 제3권2호
• /
• pp.30-34
• /
• 2021

Campomelic dysplasia (CD) is a rare genetic disorder characterized by multiple skeletal anomalies and the abnormal development of male reproductive organs. To date, the SOX9 gene is the only known causal gene for CD, and approximately 90 causative mutations in SOX9 have been identified worldwide. CD is diagnosed based on clinical characteristics of skeletal dysplasia (e.g., short bowed long bones, kyphoscoliosis, bell-shaped thoracic cage with 11 pairs of ribs, and hypoplastic scapulars), typical facial features of Pierre Robin sequence with cleft palate, and gonadal dysgenesis in 46,XY individuals. Most patients with CD exhibit life-threatening respiratory failure owing to laryngotracheomalacia and hypoplastic thorax during the neonatal period. Although fatal complications decrease after infancy, several medical conditions continue to require proper management. A better understanding of this rare but lethal condition may lead to more appropriate treatments for patients.

• 수면정신생리
• /
• 제22권1호
• /
• pp.30-34
• /
• 2015

비만성 저환기 증후군은 체질량지수 $30kg/m^2$ 이상의 비만 환자에서 낮 동안의 저산소혈증 및 고탄산혈증($PaCO_2$ 45 mmHg 이상, $PaO_2$ 70 mmHg 미만) 소견을 보이는 질환으로 90% 이상에서 무호흡-저호흡 지수가 시간 당 5회 이상인 폐쇄성 수면 무호흡이 동반되어 나타난다. 특히 고탄산혈증을 유발할 수 있는 심한 폐쇄성 환기장애나, 간질성 폐질환 혹은 심한 흉벽질환 및 신경근육질환을 배제하는 것이 진단에 필수적이나, 임상적으로 비만성저환기 증후군의 양상을 보인다면 조기에 질환을 의심하는 것이 예후에 매우 중요한 영향을 끼친다. 비만성 저환기 증후군 치료의 목표는 체중감소 및 폐쇄성 수면무호흡의 치료, 고탄산혈증과 저산소혈증의 개선으로 산소치료, 경비적 지속적 상기도 양압술, 비침습적 양압 환기요법 등으로 치료 효과를 얻은 증례들이 보고되어 있다. 특히 만성 호흡 부전의 급성 악화가 동반 환자이거나, 지속적 상기도 양압술로 치료가 실패한 환자, 폐쇄성수면무호흡을 동반하지 않은 비만성저환기 환자의 경우에는 이단 상기도 양압술을 적용하여 더 효과적인 치료 결과를 기대할 수 있다. 저자들은 폐포저환기를 유발할만한 다른 질병이나 상태를 가진 환자의 경우에도 중증 비만, 코골이 및 수면 중 무호흡, 낮 동안의 저산소혈증 및 고탄산혈증 등 비만성저환기증후군의 특징적 임상 양상에 근거하여 조기에 비만성저환기 증후군을 의심하였고 이에 대한 평가를 진행하여 이단 상기도 양압 치료를 통해 치료 효과를 거두고 환자의 예후에 매우 큰 영향을 끼치는 것을 경험하였기에 보고하는 바이다.

• Journal of mucopolysaccharidosis and rare diseases
• /
• 제2권1호
• /
• pp.31-31
• /
• 2016

Purpose: To describle clinical features and enzyme activity of Vietnamese patients with Mucolipidosis type II. Methods: Clinical features, laboratory and plasma lysosom enzyme activity by 4 MU-Fluorometric assay was studied from 2014-2015 at the Northern referral center of Pediatrics - National Children's Hospital. Results: 16 cases (7 girls and 9 boys) were diagnosed with I-cell bases on clinical symptoms and enzyme activities studies. Diagnosis age was $5.93{\pm}4.28$ years, onset age was recognised from birth to 4 years (median 1.25) with the feature of joint stiffness and bone deformation. All cases presented with the feature of joint stiffness, chest deformation and kyphoscoliosis; Fifteen cases (93.7%) had coarse facial features. No patients had hepatosplenomegaly on abdominal ultrasound, 5/15 patients had heart valves disease. Enzyme assay showed ${\alpha}$-Hexosaminidase of $1,885.9{\pm}338.7$ (nmol/mg plasma/17 hrs), ${\alpha}$-Iduronate sulfatase of $4,534.8{\pm}1,062.9nmol/mg$ plasma/4 hrs). Conclusion: Mucolipidosis II seriously affected the life of the patients with skeletal deformities, contractures develop in all joints and cardiac involvement.

• The Journal of Korean Physical Therapy
• /
• 제25권4호
• /
• pp.204-209
• /
• 2013

Purpose: Children with cerebral palsy generally have a high incidence of respiratory problem, resulted from poor coughing, airway clearance problem, respiratory muscle weakness, kyphoscoliosis and so forth. The purpose of this study is to investigate the possible factors that can be affected to forced vital capacity (FVC) in children with cerebral palsy. Methods: Total thirty six children with diplegic and hemiplegic cerebral palsy were recruited in this study. They were evaluated by general demographic data (i.e., age, gender, body mass index (BMI)) and variables related to respiratory functions (i.e., chest mobility, waist mobility, maximal phonation time, and maximum inspiratory/expiratory pressure (MIP/MEP)). The correlation between forced vital capacity and the rested variables were analyzed, and multiple regression with stepwise method was conducted to predict respiratory function, in terms of FVC as the dependent variable, and demographic and other respiratory variables as the independent variable. Results: FVC showed a significant correlation with waist mobility (r=0.59, p<0.01), maximal phonation time (r=0.48, p<0.05), MIP (r=0.73, p<0.01), and MEP (r=0.60, p<0.01). In addition, the multiple regression analysis model indicated that FVC could be predicted by the assessment of each waist mobility and MIP. Conclusion: These finding suggest that respiratory function is related to body size and respiratory muscle strength, and that BMI, waist mobility, and MIP can be predictable factors to affected respiratory function in term of FVC.