• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.1
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• pp.23-29
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• 2018

Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonemia. CPS1D is caused by mutations in the CPS1 gene on chromosome 2q35. Based on the age of onset, there are two phenotypes: the neonatal type and the delayed-onset type. The severity of clinical manifestation depends on the degree of CPS1 residual enzymatic activity, and can result in hyperammonemia and neurological dysfunction. We report a case of CPS1D in a neonate who developed vomiting, decreased consciousness and hyperammonemia at 25th day after birth. She showed excellent response to treatment including hydration, ammonia-lowering drugs and a low-protein diet without hemodialysis. Her growth, development and neurological outcomes were fair at the last follow-up at 17 months of age.

• Journal of Chest Surgery
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• v.34 no.10
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• pp.769-774
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• 2001

Background: Descending necrotizing mediastinitis(DNM) is a serious complication originating in odontogenic or oropharyngeal infection with previously reported mortality rates of 25% to 40%. We retrospectively reviewed the 4 years of our surgical drainage and debridement in DNM. Material and Method: We studied 7 cases diagnosed as DNM from 1997 through 2000. Primary oropharyngeal infection lead to DNM in four cases(57%) and odontogenic abscess in three cases(43%). All patients were received emergent cervicotomy and thoracotomy or sternotomy for debridement of necrotic tissue and mediastinal or pleural drainage. Result: Five cases were evolved well and were discharged after a mean of 42 days. Two patients(28.6%) died. Three patients required reoperation due to local surgical complication; empyema(two) and impending cardiac tamponade. One of these patients died on 12 post-reoperative day due to great vessel erosion, renal and respiratory insufficiency. The other patient died of broncho- esophageal fistula and asphyxia on 10 postoperative day without reoperation. Conclusion: On the basis of experience accrued in treating these patients, early diagnosis by cervicothoracic computed tomographic scan of neck and thorax aids in rapid indication of a surgical approach of DNM. We emphasize that performing early surgical drainage and debridement of necrotic tissues with intensive postoperative care can significantly reduce the mortality rate.

• Journal of Chest Surgery
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• v.41 no.1
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• pp.82-88
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• 2008

Background: Descending necrotizing mediastinitis (DNM) is a serious disease originating in odontogenic or oropharyngeal infection with high mortality despite adequate antibiotics and aggressive surgery. We analyzed results of treatment for DNM. Material and Method: We studied 8 cases diagnosed as DNM from 1998 to 2007. All patients received emergent surgical drainage and debridement with broad spectrum antibiotics just after diagnosis. Antibiotics were changed after bacterial susceptibility testing. The surgical approach included 2 cases of cervicotomy, 6 cases of cervicotomy, and a thoracotomy. Result: The interval between symptom onset and hospitalization was $4.6{\pm}1.8$ days ($1{\sim}9$ day). DNM originated in 4 cases of odontogenic infection (50%), 2 cases of oropharyngeal infection (25%), and 2 cases of unknown origin (25%). Causative organisms were found in 6 cases; Streptococcus in 4 cases, Staphylococcus in 1 case, and Klebsiella in 1 case. The Endo DNM classification was type I (2 cases), IIA (3 cases), and IIB (3 cases). The incidence of thoracotomy was 75%. The surgical mortality rate was 25% (2/8). The cause of death was multiple organ failure caused by septic shock. All mortality cases received only cervicotomy and aggravated infections after initial drainage. Conclusion: Early diagnosis, immediate surgical drainage, and adequate antibiotics, including covered anaerobes, are required. Thoracotomy should be performed with cervicotomy even for localized DNM.