Glutaric aciduria type 1(GA1) is an autosomal recessive disorder of the lysine, hydroxylysine and tryptophan metabolism caused by the deficiency of mitochondrial glutaryl-CoA dehydrogenase. This disease is characterized by macrocephaly at birth or shortly after birth and various neurologic symptoms. Between the first weeks and the 4-5th year of life, intercurrent illness such as viral infections, gastroenteritis, or even routine immunizations can trigger acute encephalopathy, causing injury to caudate nucleus and putamen. But intellectual functions are well preserved until late in the disease course. We report a one-month-old male infant with macrocephaly and hypotonia. In brain MRI, there was frontotemporal atrophy(widening of sylvian cistern). In metabolic investigation, there were high glutarylcarnitine level in tandem mass spectrometry and high glutarate in urine organic acid analysis, GA1 was confirmed by absent glutaryl-CoA dehydrogenase activity in fibroblast culture. He was managed with lysine free milk and carnitine and riboflavin. He developed well without a metabolic crisis. If there is macrocephaly in an infant with neuroradiologic sign of frontotemporal atrophy, GA1 should have a high priority in the differential diagnosis. Because current therapy can prevent brain degeneration in more than 90% of affected infants who are treated prospectively, recognition of this disorder before the brain has been injured is essential for treatment.
Atrophy ; Brain ; Carnitine ; Caudate Nucleus ; Diagnosis, Differential ; Fibroblasts ; Gastroenteritis ; Glutaryl-CoA Dehydrogenase ; Humans ; Hydroxylysine ; Immunization ; Infant ; Lysine ; Macrocephaly* ; Magnetic Resonance Imaging ; Male ; Metabolism ; Milk ; Muscle Hypotonia ; Neurologic Manifestations ; Parturition ; Putamen ; Riboflavin ; Tandem Mass Spectrometry ; Tryptophan

PURPOSE: Intrauterine growth retardatation(IUGR) is very important because of high mortality and morbidity in the neonatal period. We studied the intrauterine growth retardation pattern in neonates with congenital heart disease(CHD). METHODS: One hundred seventeen cases with CHD(acyanotic, 73 cases; cyanotic, 44 cases) who had no other congenital malformation or maternal diseases that might affect fetal growth were enrolled in this study along with 120 control cases without CHD. We analyzed birth weight, crown-heel length and neonatal ponderal index. RESULTS:The proportion of IUGR infants was 17 out of 237 cases(7.2%). Compared to a normal control group(5/120, 4.2%), the CHD group had more IUGR(12/117, 10.3%)(P=0.006). Low birth weight(LBW) was higher in the CHD group(26/117, 22.2% vs 15/120, 12.5%; P=0.048). Among the CHD group, acyanotic CHD had often more than cyanotic CHD(21/73, 28.8% vs 5/44, 11.4%; P= 0.028). The proportion of IUGR among the LBW was 12 out of 41 cases(16.3%) in total. But, there were no significant difference in the proportion of IUGR among the LBW(10/26, 38.5% vs 2/15, 13.3 %; P=0.089), the proportion of IUGR among the prematurity(3/25, 12.0% vs 2/25, 8.0%; P=0.637) and abnormal neonatal ponderal index(5/12, vs 3/5; P=0.490). The proportion of short crown-heel length was high in the CHD group(7/117, 6.0% vs 1/120, 0.8%; P=0.028). CONCLUSION: Neonates with CHD had greater incidence of LBW, short crown-heel length and IUGR compared to normal neonates. Moreover, symmetrical IUGR was more common in IUGR neonates with CHD. Therefore, intrauterine development might be more influenced by intrinsic fetal factors than hemodynamic alteration of the circulation in CHD with IUGR.
Birth Weight ; Fetal Development ; Fetal Growth Retardation ; Heart ; Heart Defects, Congenital* ; Hemodynamics ; Humans ; Incidence ; Infant ; Infant, Newborn* ; Mortality ; Parturition

Marshall-Smith syndrome is characterized by a triad of facial dysmorphism, failure to thrive and accelerated osseous maturation. We report a one-month-old male infant with of this rare syndrome, with laryngeal anomalies who died at 6 months of age with pneumonia. This is the first case of Marshall-Smith syndrome in Korea.
Failure to Thrive ; Humans ; Infant ; Korea ; Male ; Pneumonia

PURPOSE: Magnetic resonance diffusion tensor imaging-based three-dimensional fiber tractography (DTI-FT) is a new method which demonstrates the orientation and integrity of white matter fibers in vivo. However, clinical application on children with cerebral palsy is still under investigation. We present various abnormal patterns of DTI-FT findings and accordance rate with clinical findings in children with hemiplegic cerebral palsy, to recognize the usefulness of DTI-FT. METHODS: The thirteen children with hemiplegic cerebral palsy evaluated at Yeungnam University hospital from March, 2003 to August, 2007 were enrolled in this study and underwent magnetic resonance DTI-FT of the corticospinal tracts. Two regions of interest (ROI) were applied and the termination criteria were fractional anisotropy > or =0.3, angle< or =70degrees. RESULTS: The patterns and distribution of abnormal DTI-based corticospinal tractographic findings were interruption(10 cases, 76.9%), reduction of fiber volume (8 cases, 61.5%), agenesis of corticospinal tract (3 cases, 23.1%), transcallosal fiber (2 cases, 15.4%) and, aberrant corticospinal tracts (4 cases, 30.8%). Abnormal DTI-based corticospinal tractographic findings were in accordance with the clinical findings of cerebral palsy in 84.6% of the enrolled patients. CONCLUSION: Our results suggest that DTI-FT would be a useful modality in the assessment of the corticospinal tract abnormalities in children with hemiplegic cerebral palsy.
Anisotropy ; Cerebral Palsy ; Child ; Diffusion ; Humans ; Magnetic Resonance Spectroscopy ; Orientation ; Pyramidal Tracts

PURPOSE: Chronic low-grade inflammation may induce chronic kidney disease in patients with type 2 diabetes. This study investigated the relation between inflammatory biomarkers and chronic kidney disease in patients with type 2 diabetes, which has not yet been reported in Asian populations. MATERIALS AND METHODS: A cross-sectional study was performed in 543 patients recruited from diabetic clinics for an ongoing, prospective study. Multivariate logistic regression was used to evaluate the association between inflammatory biomarkers and the presence of chronic kidney disease (estimated glomerular filtration rate < 60 mL/min per 1.73 m2 by the simplified Modification of Diet in Renal Disease equation using plasma creatinine). RESULTS: The risk of chronic kidney disease increased in the highest quartiles of C-reactive protein (CRP) [multivariate odds ratio (OR) = 3.73; 95% CI = 1.19-1.70] and tumor necrosis factor-alpha (multivariate OR = 4.45; 95% CI = 1.63-12.11) compared to the lowest quartiles after adjustments for age, sex, zinc intake, and other putative risk factors for chronic kidney disease. CONCLUSION: Our results suggest that CRP and tumor necrosis factor-alpha may be independent risk factors for chronic kidney disease in patients with type 2 diabetes. A causal mechanism of this association should be evaluated in a follow-up study of Korean patients with type 2 diabetes.

BACKGROUND: Recombinant human erythropoietin (rHuEPO) is an essential and well-established treatment for renal anemia. Rcently, clinicians have moved toward administration of high dose rHuEPO to reduce the inconvenience and time efficient.We aimed to determine whether high dose subcutaneous (SC) epoetin alfa is as efficient and safe as the usual dose for treating anemia in continuous ambulatory peritoneal dialysis (CAPD) patients. METHODS: Twenty-four patients on CAPD were randomly assigned to a high-usual dose group (n=12) and an usual-high dose group (n=12) with a variable interval for 48 weeks. Patients received 10 times treatments by scheduled visiting during Period I lasting 24 weeks and received 4 times treatments by scheduled visiting in Period II lasting 24 weeks by cross-over. The high dose was 10,000 IU and the usual dose was 4,000 IU epoetin alfa regimen. If hematocrit was out of the targeted range, 30~39%, the interval of epoetin alfa was changed within 50% of the previous interval. RESULTS: Fifteen patients, out of 24, completed the study (8 patients in the high-usual dose group; 7 patients in the usual-high dose group). Mean hemoglobin levels at randomization and after 12, 24, 36 and 48 weeks were 10.8+/-1.1, 11.5+/-0.9, 11.5+/-1.5, 11.4+/-1.5, 11.5+/-0.8 g/dL, respectively, in high-usual dose group compared with 11.2+/-0.8, 11.4+/-1.2, 11.2+/-0.9, 11.2+/-1.4, 11.4+/-0.9 g/dL, respectively, in usual-high dose group. The mean weekly epoetin alfa dosages at randomization and after 12, 24, 36 and 48 weeks were 83.6+/-38.1, 87.1+/-35.8, 89.4+/-34.2, 60.1+/-25.1, 62.8+/-30.7 IU/kg/week, respectively, in high-usual dose group compared with 69.8+/-31.6, 64.9+/-12.2, 69.9+/-46.1, 78.8+/-29.3, 75.9+/-16.4 IU/kg/week, respectively, in usual-high dose group. No statistically significant differences between the two groups were apparent for hemoglobin levels or mean weekly epoetin alfa dosages. Treatment interval at Period I and Period II were 13.3+/-5.3, 8.2+/-4.3 days in high-usual dose group compared with 7.0+/-2.5, 13.4+/-4.0 days in usual-high dose group with statistically significant differences. Treatment interval in high dose was about two times as longer as usual dose. Adverse events were generally mild and transient, and pain on injection site following subcutaneous administration was rarely reported. CONCLUSIONS: This study demonstrates that epoetin alfa 10,000 IU is as efficient and safe as 4,000 IU with a similar weekly dose in CAPD patients. Epoetin alfa 10,000 IU administration can reduce frequency of injections by about one half.
Anemia ; Cross-Over Studies* ; Erythropoietin ; Hematocrit ; Humans ; Peritoneal Dialysis, Continuous Ambulatory* ; Random Allocation ; Epoetin Alfa

OBJECTIVE: Although cyclophosphamide (CYC) is effective for the treatment of diffuse proliferative lupus nephritis (DPLN) and severe membranous nephropathy (MN), it has serious adverse effects. Therefore, we evaluated our clinical observations with mycophenolate mofetil (MMF) for empirical treatment of DPLN and severe MN. METHODS: Seventeen patients with biopsy proven severe MN (n=8) and DPLN (n=9) received MMF for > or = 6 months as primary treatment (n=9) or subsequent maintenance therapy after CYC treatment (n=8). Treatment outcome was evaluated by random urine protein/creatinine ratio (UP/Cr) and serum creatinine (sCr) at the start and at 12 months and compared by the Wilcoxon signed-rank test. RESULTS: Overall, the mean (+/-SD) UP/Cr decreased in both MN (6.48+/-3.03 vs. 1.31+/-1.22, p= 0.016) and DPLN (3.77+/-2.34 Vs 0.83+/-0.53, p=0.043) patients. No significant change in serum Cr was detected in both MN and DPLN patients. Adverse events included nausea/abdominal discomfort (n=1) and menstrual irregularity (n=1). CONCLUSION: Short term empirical treatment with MMF in the majority of patients with severe MN and DPLN was well tolerated and effective in decrease of proteinuria and stabilization of renal function. Controlled clinical trials are necessary to define the role of MMF in the treatment of severe MN and DPLN.
Biopsy ; Creatinine ; Cyclophosphamide ; Glomerulonephritis, Membranous* ; Humans ; Lupus Nephritis* ; Proteinuria ; Treatment Outcome

Polyomavirus BK viral allograft nephritis is a great challenge in posttransplant management and graft survival because of difficulty in diagnosing and treatment. Initial treatment usually involves reducing immunosuppressive medications. However if concomitant acute rejection exist, it is more challenging in managing these patients, because acute rejection requires increase in immunosuppression. We present a case of a 35-year-old man who developed BK viral allograft nephritis and concomitant acute rejection 3 months after transplantation. BK viral allograft nephritis was missed in diagnosis and only pulse steroids for anti-rejection therapy was done. Initially, renal function was improved, but 4 months later, he presented with deterioration in renal function. Second renal biopsy showed BK allograft nephritis without rejection. BK viral DNA in plasma by PCR and urinary decoy cell were also positive. Reduction in immunosuppression by discontinuing mycophenolate mofetil stabilized the deterioration in renal function, however it failed to clear viremia.
Adult ; Allografts* ; Biopsy ; BK Virus* ; Diagnosis ; DNA, Viral ; Graft Survival ; Humans ; Immunosuppression ; Kidney Transplantation ; Nephritis ; Nephritis, Interstitial* ; Plasma ; Polymerase Chain Reaction ; Polyomavirus ; Steroids ; Viremia

OBJECTIVE: Although hemodialysis using heparin bound Hemophan (HBH-HD) has been reported to be a possible modality in patients at risk of bleeding, the efficiency and safety of HBH-HD is not certain. Therefore, we prospectively compared the safety and efficiency of HBH-HD with those of saline flushing HD (SF-HD) and HD using low dose heparin (LDH-HD) in 13 HD patients at risk of bleeding in a cross-over design. METHODS: The safety and efficiency were evaluated by measuring activated partial prothrombin time (aPTT) before and during HD, hemostasis time after needle removal, total blood compartment volume (TBCV) loss of dialyzer, urea clearance (K) and Kt/V. RESULTS: There was no difference in compression time needed to achieve hemostasis at puncture site after needle removal between HBH-HD, SF-HD and LDH-HD. During HBH-HD, there was a slight increase in aPTT at 15 min (50.6+/-4.5 sec), compared to predialysis levels (40.9+/-4.7 sec). In this cross- over study, aPTT during dialysis session was markedly higher in LDH-HD than those in HBH-HD or SF-HD (p<0.05). The loss of TBCV of the dialyzer was greater in SF-HD than HBH-HD or LDH-HD (17.4+/-1.9% vs. 12.4+/-1.4% vs. 10.1+/-1.8%). However, there was no difference in K (212.0+/-30.7 vs. 217.2+/-36.9 vs. 221.6+/- 29.5 mL/min) and Kt/V (1.22+/-0.12 vs. 1.24+/-0.16 vs. 1.26+/-0.18). CONCLUSION: We concluded that the safety and efficiency of HBH-HD are not different compared to SF-HD or LDH-HD and HBH-HD could an alternative hemodialysis method in patients at risk of bleeding.
Anticoagulants ; Cross-Over Studies ; Dialysis ; Flushing* ; Hemorrhage* ; Hemostasis ; Heparin* ; Humans ; Needles ; Prospective Studies ; Prothrombin Time ; Punctures ; Renal Dialysis* ; Urea

PURPOSE: The purpose of this study is to analyze the epidemiologic characteristics of sudden unexpected death in infancy and to evaluate the importance of postmortem autopsy. METHODS: We reviewed, retrospectively, medical records of 34 infants admitted to Kangnam General Hospital from January 1987 to December 2001 because of sudden unexpected death. We investigated the cause of death through medical history, death scene examination, autopsy findings, acylcarnitine and organic acid analysis. RESULTS: Among the total 34 infants, 18 were male(52.9%) and 16 were female(47.1%). Thirty infants(88%) were below the six months of age. Winter was the most affected season(38.2%). Eighteen infants(52.9%) died between 6 and 12AM. The prone sleeping position was observed more frequently than the supine position at death; nine cases in the prone position, six cases in the supine position. The cause of death of 23 cases could not be found by only history and death scene examination. Autopsy was done in 13 cases. Seven cases of them were thought to be SIDS. In six cases, we explained the cause of death with autosy findings. They were an endocardial fibroelastosis, a nesidioblastosis, a subdural hematoma, a bronchopneumonia and two fatty changes of liver. Metabolic screening tests performed in three cases to rule out metabolic disorder since 2000 were all normal. CONCLUSION: We concluded that autopsy and metabolic screening test should be performed to find out the cause of death in sudden unexpected death in infancy.
Autopsy* ; Bronchopneumonia ; Cause of Death ; Endocardial Fibroelastosis ; Hematoma, Subdural ; Hospitals, General ; Humans ; Infant ; Liver ; Mass Screening ; Medical Records ; Nesidioblastosis ; Prone Position ; Retrospective Studies ; Sudden Infant Death ; Supine Position