• Journal of Genetic Medicine
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• v.11 no.1
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• pp.22-26
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• 2014

Maple syrup urine disease (MSUD) is a disorder that involves the metabolism of branched chain amino acids, arising from a defect in branched-chain ${\alpha}$-keto acid dehydrogenase complex. Mutations have been identified in the BCKDHA, BCKDHB, or DBT genes, which encode different subunits of the BCKDH complex. Although encephalopathy and progressive neurodegeneration are its major manifestations, the severity of the disease may range from the severe classic type to milder intermediate variants. We report two Korean siblings with the milder intermediate MSUD who were diagnosed with MSUD by a combination of newborn screening tests using tandem mass spectrometry and family genetic screening for MSUD. At diagnosis, the patients' plasma levels were elevated for leucine, isoleucine, valine, and alloisoleucine, and branched-chain ${\alpha}$-keto acids and branched-chain ${\alpha}$-hydroxy acids were detected in their urine. BCKDHA, BCKDHB, and DBT analysis was performed, and two novel mutations were identified in BCKDHB. Our patients were thought to have the milder intermediate variant of MSUD, rather than the classic form. Although MSUD is a typical metabolic disease with poor prognosis, better outcomes can be expected if early diagnosis and prompt management are provided, particularly for milder forms of the disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.2 no.1
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• pp.46-58
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• 1999

Purpose: The aim of the present study was to evaluate the long-term clinical profile including the underlying etioligy and the prognostic factors of the neonatal cholestasis. Method: We studied the 190 infants presented with neonatal cholestasis for the last 12 years (from 1981 to 1992). The underlying causes, clinical findings and long-term outcomes were evaluated. And the prognostic factors were also analyzed. Result: Underlying disease were neonatal hepatitis in 101 (idiopathic in 77 and infectious in 24), intrahepatic bile duct paucity in 5, biliary atresia in 79, choledochal cyst in 5. Metabolic disease was not observed in this study. The important clinical problems during follow-up were persistent high fever, gastrointestinal bleeding, hepatic encephalopathy and ascites. The main causes of the death were hepatic encephalopathy and gastrointestinal bleeding. While three fourth of infants with idiopathic and infectious neonatal hepatitis recovered usually within a year, five-year survival rate for biliary atresia was just 40%, the mortality observed usually within the first year after Kasai operation and prognostic factor was the time of operation. Underlying disease was the most important prognostic factor of neonatal cholestasis. Conclusion: This study showed that most common causes of neonatal cholestasis were biliary atresia and idiopathic neonatal hepatitis, infectious neonatal hepatitis, choledochal cyst and Alagille syndrome, but few neonatal cholestasis of genetic or metabolic liver disease was observed. The most important long-term prognostic factor of neonatal cholestasis was the underlying disease.

• Clinical and Experimental Pediatrics
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• v.50 no.11
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• pp.1097-1103
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• 2007

Purpose : Acute symptomatic seizure is defined as a temporary seizure together with acute systemic, metabolic, or toxic insult in association with an acute central nervous system insult. And unprovoked seizure is defined as seizure without provocating factors. We studied the risk factors of unprovoked seizures after acute symptomatic seizure in children. Methods : We retrospectively reviewed the records of one hundred and ten children with acute symptomatic seizures who were admitted to the pediatric department of Chungbuk National University Hospital between January, 1998 and December, 2003. We analyzed overall risk factors of unprovoked seizures after acute symptomatic seizures involving etiology, incidence, type of seizure, duration and neuroimaging. Results : We analyzed records of 110 children with acute symptomatic seizures aged from 1 month to 17 years. 24 children had unprovoked seizures (21.8%) after acute symptomatic seizures. Causes in order of frequency were encephalopathy, central nervous system infection, brain tumor, cerebrovascular disease. The risk of unprovoked seizure was significantly greater for those with status epilepticus (68.4%) than without status epilepticus, with partial seizure (64.7%) than generalized seizure. And the risk of unprovoked seizure was strongly associated with abnormal finding of electroencephalogram (79.1%) and neuroimaging (41.6%). Conclusion : In conclusion, the leading cause of subsequent unprovoked seizure in children with acute symptomatic seizure was encephalopathy and age specific incidence was high in the group aged 24-72 months. The risk for subsequent unprovoked seizure was greater for those with partial seizure, status epilepticus, abnormal finding of neuroimaging and electroencephalography.

• Korean Journal of Psychosomatic Medicine
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• v.16 no.2
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• pp.69-74
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• 2008

Delirium is an organic psychiatric syndrome characterized by an acute onset, prominent disturbance of consciousness and cognitive impairment with fluctuating course. Although there is not a clear consensus concerning the optimal classification system for delirium subtypes, Lipowski(1983) firstly classified delirium by psychomotor activity, namely hyperactive, hypoactive, and mixed. According results of several following studies, prevalence of hypoactive delirium were not less than that of hyperactive delirium. But a diagnosis of hypoactive delirium often missed, which is most frequently misdiagnosed as depression and dementia. Hyperactive delirium can be caused by alcohol or benzodiazepine withdrawal, would be related with excessive dopamine and cholinergic deficiency, and is more responsive to high-potency antipsychotics therapy. Hypoactive delirium would be caused by metabolic encephalopathy, and tends to present a less responsiveness to antipsychotics and poorer overall prognosis with a prolonged duration of admission than hyperactive delirium. Delirium is not a homogenous syndrome. Because of different subtypes, it may have dissimilar underlying pathogenetic pathways. So different treatment strategies between various subtypes may be needed.

• Investigative Magnetic Resonance Imaging
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• v.6 no.1
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• pp.64-72
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• 2002

Purpose : To introduce and demonstrate the advantages of the new hybrid two-dimensional (2D) proton spectroscopic imaging (SI) over the single voxel spectroscopy (SVS) and conventional 2D SI in the clinical application of spectroscopy for pediatric cerebral disease. Materials and Methods : Eighty-one hybrid 2D proton spectroscopic imaging was performed in 79 children (36 normal infants and children, 10 with hypoxic-ischemic injury, 20 with toxic-metabolic encephalopathy, seven with brain tumor, three with meningoencephalitis, one with neurofibromatosis, one with Sturge-Weber syndrome and one with lissencephaly) ranging in age from the third day of life to 15 years. In adult volunteers (n=5), all three techniques including hybrid 2D proton SI, SVS using PRESS sequence, and conventional 2D proton SI were performed. Both hybrid 2D proton SI and SVS using PRESS sequence were performed in clinical cases (n=). All measurements were performed with a 1.5-T scanner using standard head quadrature coil. The 16$\times$16 phase encoding steps were set on variable field of view (FOV) depending on the size of the brain. The hybrid volume of interest inside FOV was set as $75{\times}75{\times}15{\;}\textrm{mm}^3$ or smaller to get rid of unwanted fat signal. Point-resolved spectroscopy (TR/TE=1,500 msec/135 or 270msec) was employed with standard chemical shift selective saturation (CHESSI pulses for water suppression. The acquisition time and spectral quality of hybrid 2D proton SI were compared with those of SVS and conventional 2D proton SI. Results : The hybrid 2D proton SI was successfully conducted upon all patients.

• Journal of Chest Surgery
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• v.33 no.12
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• pp.941-947
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• 2000

Background: Central nervous system complication after coronary artery bypass grafting(CABG) is one of the major prognostic determinants and the use of the cardiopulmonary bypass(CPB) may increase the incidence of this devastating complication. In this study, the outcomes after off-pump CABG were studied and compared with those following the conventional CABG using CPB. Material and Method: Among the consecutive isolated CABG's performed in SNUH during Feb. 1995 and Jun. 1999, 338 coronary artery bypass grafting were divided into two groups. 223 patients underwent CABG using the CPB(Group I), and 115 patients underwent CABG without CPB(OPCAB)(Group II). All patients enrolled in this study received extensive preoperative examinations including thorough neurologic examination before and after surgery, transcranial doppler study, carotid duplex ultrasonography, and magnetic resonance angiography if necessary. Central nervous system(CNS) complications were defined as stroke, seizure, metabolic or hypoxic encephalopathy and transient delirium after surgery. Result: There were 61 cases(27.3%) who developed postoperative CNS complication in Group I, whereas 8 cases(7.0%) of CNS complications developed postoperatively in group II(p<0.05). Statistically significant predictors of postoperative CNS complications in group I were age and the use of cardiac assist devices perioperatively. Conclusion: This study suggested that omitting the use of CPB in CABG resulted in significant decrease of the postoperative CNS complications. OPCAB should be more widely applied especially to the elderly who have preexisting cerebrovascular disease.