• Journal of Chest Surgery
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• v.35 no.11
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• pp.839-841
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• 2002

Generally, patients who have airway compression with severe kyphoscoliosis can be improved through surgery for the thoracolumbar deformity. However, abnormal thoracic configuration due to severe kyphoscoliosis can cause respiratory distress secondary to severe compression of central airway in uncorrectable case. We tried to elevate the chest wall and obtained relatively good result in case of airway compression with abnormal thoracic configuration which was difficult to correct.

• Journal of Dental Anesthesia and Pain Medicine
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• v.19 no.5
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• pp.307-312
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• 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
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• v.9 no.2
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• pp.93-97
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• 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
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• v.44 no.5
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• pp.383-386
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• 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
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• v.17 no.1
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• pp.141-146
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• 2010

Metatropic dysplasia is a rare spondylo epi metaphyseal dysplasia characterized by progressive kyphoscoliosis, short limbs with relatively large hands and feet and limited of motion and enlargement of the large joints. It is diagnosed based on the characteristic clinical and radiological features. Even though benign cases of this disease are frequently reported, metatropic dysplasia can often have a fatal outcome. We describe a sporadic case of the well-delineated lethal metatropic dysplasia.

• Journal of Chest Surgery
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• v.32 no.9
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• pp.844-846
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• 1999

Chronic irritation to arterial wall by foreign material may give rise to delayed vascular injury. A 50 years old male patient with kyphoscoliosis had undergone fixation of orthopedic Cotrel-Dubousset(CD) rods and screws. Fourteen months after that surgery, a false aneurysm of the descending thoracic aorta associated with pulsating hematoma in the muscular chest wall developed. The false aneurysm was managed by resecting the diseased aortic segment and replacing the vascular graft.

• Journal of Interdisciplinary Genomics
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• v.3 no.2
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• pp.30-34
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• 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.

• Sleep Medicine and Psychophysiology
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• v.22 no.1
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• pp.30-34
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• 2015

Obesity hypoventilation syndrome (OHS) is characterized by severe obesity, excessive daytime sleepiness, hypoxemia and hypercapnea. Because OHS mimics pulmonary hypertension or cor pulmonale, clinicians should recognize and treat this syndrome appropriately. A 58-year-old female visited the emergency room because of dyspnea. She was obese and had kyphoscoliosis. The patient also experienced snoring, recurrent choking during sleep and daytime hypersomnolence which worsened after gaining weight in the recent year. The arterial blood gas analysis showed she experienced hypoxemia and hypercapnea not only during nighttime but also daytime. We suspected OHS and the patient underwent polysomnography to confirm whether obstructive sleep apnea was present. During the polysomnography test, sleep obstructive apnea was observed and apnea-hypopnea index was 9.2/hr. The patient was treated with bilevel positive airway pressure therapy (BiPAP). After BiPAP for 4 days, hypoxemia and hypercapnia were resolved and she is currently well without BiPAP. We report a case successfully treated with clinical improvement by presuming OHS early in a patient who had typical OHS symptoms, even while having other conditions which could cause hypoventilation.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.31-31
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• 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
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• v.25 no.4
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• pp.204-209
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• 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.