• Journal of Genetic Medicine
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• v.4 no.2
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• pp.196-199
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• 2007

Coffin-Lowry syndrome (CLS) is a rare X-linked hereditary disorder characterized by moderate to severe mental retardation, facial dysmorphism, tapering fingers, and skeletal deformity. A 12-month-old boy was referred to our pediatric clinic for his developmental delay and seizure with fever. The boy exhibited a coarse facial appearance characterized by prominent, high-arched eyebrow, broad nose, downward palpebral fissure, high arched palate, hypodontia. The boy also showed finger tapering and puffy hand. Hypotonia, hyperextensible fingers and hypermobility of the joint were seen. Based on these findings, he was diagnosed as having Coffin-Lowry syndrome. We report a case of Coffin-Lowry syndrome with reference.

• Korean Journal of Veterinary Research
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• v.52 no.1
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• pp.25-31
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• 2012

Brucella (B.) canis is mainly transmitted by direct or indirect contact with aborted fetuses and placenta. It's also known to be able to infect human, which likely results in providing veterinarians and companion animal owners for infectious risk. To develop diagnostic ELISA, we cloned and expressed rp1L gene of B. canis, which encodes the ribosomal protein L7/L12. Using this purified recombinant protein, indirect-ELISA (iELISA) was evaluated using 78 positive and 44 negative sera. The sensitivity and the specificity of iELISA were 94% and 89%, respectively. The results indicated that indirect-ELISA using recombinant ribosomal protein L7/L12 may be useful for diagnosis of canine brucellosis.

• The Journal of the Korean bone and joint tumor society
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• v.14 no.2
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• pp.198-202
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• 2008

Although Osteoid osteoma has occurred in every bone of the body, it is rarely found at the elbow and in younger children than 5 years old. In 2 years old child, diagnosis can be delayed because of nonspecific clinical, radiological features and making it difficult for the child to communicate with physician. We report a case of osteoid osteoma of the distal humeral metaphysis with intracapsular nidus and synovitis of elbow in 2 years old girl who was treated by a surgical excision.

• Journal of Korean Neurosurgical Society
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• v.29 no.7
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• pp.923-928
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• 2000

Objective : The reliability of transcranial doppler sonography(TCD) for predicting delayed ischemic neurologic deficit( DIND) was investigated in patients with aneurysmal subarachnoid hemorrhage(SAH). Methods : The velocity of blood flow through the middle cerebral artery was measured by TCD in 70 patients treated surgically within 72 hours due to ruptured cerebral aneurysm. A correlation between measured maximal mean blood flow velocities and clinical factors including age, hypertension, Hunt-Hess grade, Fisher grade, DIND, and outcome was made. Results : An age-dependent reduction of the measured maximal mean velocities was found(r＝-0.4043, p<0.001). Flow velocities in hypertensive patients were significantly lower than in the normotensive individuals(two-tailed T test, p<0.05). There was no significant difference between the flow velocities and evaluated other clinical factors. When the flow velocities of 14 patients who developed DIND were compared with those of patients without deficits, no significant difference was seen. A significant increase in flow velocities in the days before the onset of DIND was found only in 4 of 14 cases. High flow velocities did not necessarily mean impending neurological deficits : 6 of 70 patients tolerated flow velocities over 160cm/s. Conclusion : We suggest that TCD readings have limited utility for predicting DIND following SAH, especially in older or hypertensive patients. More direct measurements of blood flow are necessary to adequately predict which patients are at high risk of DIND.

• Clinical and Experimental Pediatrics
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• v.49 no.5
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• pp.570-573
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• 2006

A healthy, 14-year-old boy presented with right hip pain and consequent fever after falling out of bed while sleeping. The patient could not walk and complained of severe pain with active and passive motion, which consisted mainly in extension and internal rotation of the right hip. Laboratory analysis of the peripheral blood identified leukocytosis and increased levels of acute phase reactants. Magnetic resonance imaging of the hip, which was performed with the expectation of right hip pathology, revealed cellulitis and abscess in the right psoas muscle and associated inflammatory changes in the adjacent presacral fat plane but showed no abnormal lesions in the adjacent pelvic bone and spine. Staphylococcus hominis was cultured from the blood. With empirical antibiotic therapy, the patient recovered fully. We report a case of primary psoas abscess confused with hip pathology in an immunocompetent child without underlying disease.

• Clinical and Experimental Pediatrics
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• v.49 no.12
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• pp.1363-1366
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• 2006

Aneurysmal dilatation of the ductus arteriosis has been considered a rare but potentially fatal abnormality. The mechanism of ductal aneurysmal formation remains uncertain. Plain chest radiography has proven helpful in the diagnosis of ductus arteriosus aneurysm (DAA), before the application of transthoracic echocardiography. The transthoracic echocardiography is an important tool for the diagnosis and follow-up of DAA. We present a case of congenital ductus arteriosus aneurysm in a newborn, that was an incidental discovery. The diagnosis was made by echocardiography, three-dimensional surface rendering computed tomography (CT), and spontaneous regression after four weeks of follow-up.

• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1252-1256
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• 2007

Meconium ileus (MI) is the earliest clinical manifestation of cystic fibrosis (CF) in infants. It arises from the intraluminal accumulation of highly viscid, protein-rich meconium, typically present in the terminal ileum as a neonatal intestinal obstruction. Therefore, the clinical symptoms include abdominal distension, bilious vomiting and delayed passage of meconium. CF is caused by mutations in the transmembrane conductance regulator gene (CFTR) located in the long arm of chromosome 7. CF is common in Caucacians, but is a rare disorder in Asian countries, including Korea. We experienced a case of CF combined with MI. Compared with the previous reports of CF in Korea which presented respiratory problems, this is the first case genetically diagnosed as CF with MI during the newborn period.

• The Korean Journal of Nuclear Medicine
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• v.37 no.2
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• pp.128-134
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• 2003

섬유성 골이형성증은 비정상적인 섬유성 골조직으로 대체되며 느리게 진행하는 골병변이다. 섬유성 골이형성증과 부갑상선기능항진증은 흔하게 관찰되는 질환이나 McCune-Albright 증후군 없이 일차성 부갑상선기능항진증에 동반된 섬유성 골 이형성증은 거의 보고된바가 없다. Tc-99m MDP 골스캔이 섬유성 골이형성증의 진단에 유용하다고 알려져 있으나, Tc-99m MIBI 영상은 아직 보고된 바가 없다. 저자들은 McCune-Albright 증후군이 없이 부갑상선기능항진증에 동반된 섬유성 골 이형성증의 Tc-99m MIBI 스캔과 Tc-99m MDP 골스캔의 영상을 비교하였다. Tc-99m MDP 골스캔상 병변 부위에서 증가된 섭취 소견을 보였으며, Tc-99m MIBI 조기영상에서도 동일한 위치에서 섭취증가가 관찰되었다. 2시간 지연 Tc-99m MIBI 영상에서는 Tc-99m MIBI의 섭취가 배출되는 소견을 보였다. 섬유성 골이형성증 병변에서 Tc-99m MIBI 스캔이 유용할 것이라고 생각하며, 섬유성 골이형성증 병변에서 Tc-99m MIBI의 섭취를 증가시키는 인자에 대한 더 많은 연구가 필요할 것으로 생각한다.

• Journal of Chest Surgery
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• v.31 no.2
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• pp.182-185
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• 1998

Recently, The non-penetrating injury of bronchus has been increased, especially by traffic accident. Early diagnosis and primary repair of bronchial injury not only restore normal lung function but also avoid the difficulties and complications associated with delayed diagnosis and repair. This report describes about a case of total collapse and consolidation of left lung with the complete transection of nearly bifurcated portion of left main bronchus , lasted for 2weeks after traffic accident. This was diagnosed by fiberbronchoscopy and 3-D chest computed tomography(CT). She underwent the sleeve resection and end to end anastomosis, and postoperative PEEP for 2 days, suctioning twice by fiberbronchoscopy, continue postural drainge and physiotherapy were applied. She had almost full expansion of the left lung at discharge.

• Tuberculosis and Respiratory Diseases
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• v.58 no.1
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• pp.73-77
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• 2005

Lemierre syndrome is characterized by an acute oropharyngeal infection with secondary septic thrombophlebitis of the internal jugular vein and frequent metastatic infections such as septic pulmonary emboli and suppurative arthritis. In the preantibiotic era, this condition generally had a fatal outcome. The presentation is so distinctive that a clinical diagnosis is possible in most cases, and a cure is expected with the appropriate therapy in the majority of patients. We present a case report of Lemierre syndrome with a review of the relevant literature.