No abstract available.
Biopsy* ; Child* ; Humans ; Mass Screening*

PURPOSE: Mitochondrial encephalopathy (ME) is a rare disorder of energy metabolism. The disease course can roughly be evaluated by clinical findings. The purpose of this study was to evaluate metabolic spectral changes using proton MR spectroscopy (MRS), and to establish a way to monitor ME by neuroimaging. MATERIALS AND METHODS: Proton MRS data were retrospectively reviewed in 12 patients with muscle biopsy-confirmed ME (M : F = 7 : 5, Mean age = 4.8 years). All received 1H-MRS initially and also after a ketogenic diet and mitochondrial disease treatment cocktail (follow up average was 10.2 months). Changes of N-acetylaspartate/creatine (NAA/Cr) ratio, choline/creatine (Cho/Cr) ratio, and lactate peak in basal ganglia at 1.2 ppm were evaluated before and after treatment. Findings on conventional T2 weighted MR images were also evaluated. RESULTS: On conventional MRI, increased basal ganglia T2 signal intensity was the most common finding with ME (n = 9, 75%), followed by diffuse cerebral atrophy (n = 8, 67%), T2 hyperintense lesions at pons and midbrain (n = 4, 33%), and brain atrophy (n = 2, 17%). Lactate peak was found in 4 patients; 2 had disappearance of the peak on follow up MRS. Quantitative analysis showed relative decrease of Cho/Cr ratio on follow up MRS (p = 0.0058, paired t-test, two-tailed). There was no significant change in NAA/Cr ratio. CONCLUSION: MRS is a useful tool for monitoring disease progression or impro-vement in ME, and decrease or disappearance of lactate peak and reduction of Cho/Cr fraction were correlated well with improvement of clinical symptoms.
Adolescent ; Child ; Child, Preschool ; Choline/metabolism ; Creatine/metabolism ; Female ; Humans ; Infant ; *Magnetic Resonance Spectroscopy ; Male ; Mitochondrial Encephalomyopathies/*pathology ; Retrospective Studies

PURPOSE: Headaches occur frequently in the pediatric population and have a significant impact on their quality of life. Several mechanisms are currently thought to contribute to headache pathogenesis. Our aim was to investigate the association of chronic headache in children and cerebral vascular anomaly by performing brain magnetic resonance angiography (MRA). METHODS: We retrospectively reviewed medical records and MRA of 44 patients with chronic headache who visited the pediatric clinic of Young Dong Severance hospital from January 2006 to April 2008. RESULTS: The number of enrolled patients was 44. Eight(18.2%) of them showed abnormal brain MRA findings. Abnormal findings included 5 cases of unilateral A1 hypoplasia, 1 case of unilateral vertebral artery hypoplasia, 1 case of unilateral A1 and P1 hypoplasia, 1 case of Moyamoya disease. Among the 44 patients, 21 had complained only headache and 23 had complained other neurological symptoms with headache. The ratio of abnormal MRA between the two groups showed no statistical difference. CONCLUSION: Vascular anomaly could be a possible pathogenesis and risk factor in chronic headache in children. Further investigation and long term follow up is needed.
Brain ; Child ; Follow-Up Studies ; Headache ; Headache Disorders ; Humans ; Magnetic Resonance Angiography ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Medical Records ; Moyamoya Disease ; Quality of Life ; Retrospective Studies ; Risk Factors ; Vertebral Artery

PURPOSE: Schizencephaly is a uncommon congenital brain anomaly characterized by congenital clefts spanning the cerebral hemispheres from pial surface to lateral ventricles and lined by gray matter. In this study, we investigated the clinical manifestation and radiologic findings of pediatric schizencephaly. METHODS: The data of 13 patients who were diagnosed with schizencephaly in Severance Childrens Hospital and Yongdong Severance Hospital from January 2005 to December 2007 were analyzed retrospectively. RESULTS: The mean age at diagnosis was 9.08+/-2.67 months old and ranged from 1 to 30 months. The ratio of male to female patients was 3.33:1. Five (38.5%) patients had bilateral clefts, while 8 (61.5%) had unilateral clefts. Five (38.5%) patients had closed lip clefts, and 4 (30.8%) had opened lip clefts. Four (30.8%) patients had multiple clefts. Associated anomalies showed in all cases. The clinical features consisted of mild unilateral weakness in 7 (53.8%) cases and a hemiparesis was present in 3 (23.1%) patients. A tetraparesis was in 3 (23.1%) patients. There was no difference in motor deficit between unilateral and bilateral clefts. Delayed development was observed in all cases. Epilepsy was present in 7 (53.8%) patients, 5 patients with unilateral clefts and 2 patients with bilateral clefts. Three (42.8%) patients showed intractable seizures. CONCLUSION: Schizencephaly showed variable clinical manifestations and radiologic findings in association with the types and locations of the clefts. It is necessary to diagnose schizencephaly early and to detect the development of epilepsy. Intensive and large studies of the correlation of clinical outcomes and radiologic findings should be continued for more effective treatment.
Brain ; Cerebrum ; Child ; Epilepsy ; Female ; Humans ; Lateral Ventricles ; Lip ; Male ; Malformations of Cortical Development ; Neuroimaging ; Paresis ; Retrospective Studies ; Seizures

PURPOSE: Flush high ligation of the saphenofemoral or saphenopopliteal junction combined with invaginated stripping of the greater saphenous vein to just below the knee or perforate invaginate stripping of the proximal lesser saphenous vein appears to be the method of choice for good clinical results and low incidence of damage to the saphenous or sural nerve, and is important in the prevention of recurrence. METHOD: From January 2001 to August 2001, we performed 84 operations for 72 patients with varicose veins. Among them, 77 flush high ligations (62 saphenofemoral and 15 saphenopopliteal) and 64 invaginated strippings (55 greater and 9 lesser saphenous veins) were performed. RESULT: Seventy seven flush high ligations were successfully performed in all patients, but 2 invaginated strippings were failed due to their large branches of greater saphenous veins. All of 9 proximal invaginated strippings for lesser saphenous veins were completely performed without any complications. As early postoperative complications related with invaginated strippings for greater saphenous veins, 24 (43.6%) cases of ecchymosis and 5 (9.1%) cases of paresthesia were occurred at thigh. One case of wound infection at popliteal fossa and 3 cases of wound inflammation at inguinal area were occurred. But those complications were recovered within 10 days. CONCLUSION: The results show that the invaginated stripping is very useful for patients with varicose veins, especially in stripping of lesser saphenous veins and the flush high ligation is safe for the treatment of junctional incompetence.
Ecchymosis ; Humans ; Incidence ; Inflammation ; Knee ; Ligation* ; Paresthesia ; Postoperative Complications ; Recurrence ; Saphenous Vein ; Sural Nerve ; Thigh ; Varicose Veins* ; Wound Infection ; Wounds and Injuries

Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy characterized by the smallness and the marked predominance of type 1 fibers, which presents congenital hypotonia, delayed motor milestones, joint contractures, and skeletal deformities. The muscle biopsy reveals the type 1 fibers are more than 12% smaller than the type 2 fibers in size. We describe a 24-month-old boy who presented muscle hypotonia, delayed motor milestones, mental retardation with generalized tonic clonic seizures, and the muscle pathologic findings of CFTD. Additional findings included left cryptorchidism, congenital subluxation of the hip, contractures of ankle joints, diffuse brain atrophy, and optic nerve atrophy. We should consider CFTD as a differential diagnosis of early onset myopathy.
Ankle Joint ; Atrophy ; Biopsy ; Brain ; Child, Preschool ; Congenital Abnormalities ; Contracture ; Cryptorchidism ; Diagnosis, Differential ; Hip ; Humans ; Intellectual Disability ; Joints ; Male ; Muscle Hypotonia ; Muscular Diseases ; Myopathies, Structural, Congenital* ; Optic Nerve ; Seizures

Quadricuspid aortic valve is a rare congenital malformation of the aortic valve. A case is reported of a 51 year old woman with quadricuspid aortic valve associated with regurgitation. In the past, quadricuspid aortic valve was recognised at surgery or necropsy, but now transthoracic and transesophageal echocardiography play a pivotal role in diagnosing this rare valve malformation. On occasion the transthoracic echocardiogram cannot show the quadricuspid nature of the aortic valve, and transesophageal echocardiography must be performed.
Aortic Valve* ; Echocardiography, Transesophageal ; Female ; Humans ; Middle Aged*

PURPOSE: Efforts to predict long-term outcome of focal segmental glomerulosclerosis(FSGS) have been made but have yielded conflicting results. Reports are rare especially in pediatric patients. In this study, we reviewed the predictable prognostic factors in patients of FSGS. METHOD: Fifty children who diagnosed as biopsy-proven FSGS at depart- ment of pediatrics at Yonsei university were studied retrospectively. Based on medical records, response to treatment and pathologic slides, we compared normal renal function group and decreased renal function group, assessed the factors affecting renal survival and progression to renal failure. RESULTS: The mean age at onset was 8 1/12 years, sex ratio was 2.3 : 1, and the mean duration of follow-up was 7 1/12 years. The overall renal survival rate was 34% at 5 years, 8% at 10 years. Five-year survival rate was 74% in normal renal function group and 27% in decreased renal function group. Between the two groups, there were no significant differences in age at onset, sex ratio, amount of proteinuria, incidence of hematuria and hypertension, mesangial hypercellularity. Decreased renal function group showed higher serum creatinine level, poor response to treatment, higher percent of glomeruli with sclerosis, moderate to severe tubulointerstitial change and vascular change(p<0.05). The prognostic factors of renal survival rate were same as above and incidence of hypertension also affected renal survival(p<0.05). The progression rate to renal failure did not show statistically significant factor. CONCLUSION: We reviewed the factors affecting long-term outcome of FSGS. Serum creatinine level, steroid responsiveness, and the degree of glomerulosclerosis were significant prognostic factors.
Child ; Creatinine ; Follow-Up Studies ; Glomerulosclerosis, Focal Segmental* ; Hematuria ; Humans ; Hypertension ; Incidence ; Medical Records ; Pediatrics ; Proteinuria ; Renal Insufficiency ; Retrospective Studies ; Sclerosis ; Sex Ratio ; Survival Rate

PURPOSE:Rapidly progressive glomerulonephritis (RPGN) is characterized by the rapid increase in serum creatitnin and crescents formation involving more than 50% of glomeruli. 10 patients who had been treated for RPGN were studied retrospectively for thier underlying diseases and clinical features. METHOD: Cilinical review was performed on 10 children who were diagnosed with RPGN by clinical features and renal biopsy and followed up at department of pediatrics during the last 10 years, from May 1990 to May 2000. RESULT: There were 6 males and 4 females between the ages of 2.1 and 14.3 years (mean 10.9+/-.8). 3 had Henoch-Sch nlein purpura nephritis; 2, idiopathic rapidly progressive glomerulonephritis; 2, lupus nephritis; 1, hemolytic uremic syndrome; 1, membranous glomerulonephritis and 1, microscopic polyangiitis. The most common chief complaints were gross hematuria and oliguria. Initial clinical features included proteinuria, edema, hypertension, nausea and arthralgia. Mean serum BUN was 74.2+/-39.1 mg/dL; mean serum creatinin, 3.2+/-1.8 mg/dL and mean creatinin clearance, 26.5+/-13.2 mL/min/1.73m2. Antineutrophil cytoplasmic antibody was positive only in microscopic polyangiitis. ANA and Anti-DNA antibody were positive in two lupus nephritis patients. Serum complements were decreased in 4 patients. All patients except Hemolytic uremic syndrome received steroid pulse therapy and immunosupressive agents. 3 patients were performed acute peritoneal dialysis and 2 patients were given plasmapheresis. At the last follow up, 1 patient was dead, 4 patients had elevated serum creatinin, 2 of these 4 patients were on chronic ambulatory peritoneal dialysis and 6 patients had normal renal function. CONCLUSION: Rapidly progressive glomerulonephritis is a medical emergency that requires very rapid diagnosis, classification, and therapy. Appropriate therapy selected on the basis of underlying disease mechanism can substantially improve renal survival.
Antibodies, Antineutrophil Cytoplasmic ; Arthralgia ; Biopsy ; Child ; Classification ; Complement System Proteins ; Creatinine ; Diagnosis ; Edema ; Emergencies ; Female ; Follow-Up Studies ; Glomerulonephritis* ; Glomerulonephritis, Membranous ; Hematuria ; Hemolytic-Uremic Syndrome ; Humans ; Hypertension ; Lupus Nephritis ; Male ; Microscopic Polyangiitis ; Nausea ; Nephritis ; Oliguria ; Pediatrics ; Peritoneal Dialysis ; Plasmapheresis ; Proteinuria ; Purpura ; Renal Insufficiency ; Retrospective Studies

PURPOSE: A variation in the circle of Willis is not so common, but the most frequent type is hypoplasia/aplasia of the precommunicating anterior cerebral arteries (A1 segment). We aimed to examine the incidence and the clinical significance of A1 segment hypoplasia/aplasia in neuropediatric patients. METHODS: We retrospectively studied children with A1 segment hypoplasia/aplasia in brain magnetic resonance angiography (MRA) and compared the clinical and radiological aspects between children with A1 segment hypoplasia/aplasia alone and with other variations in the circle of Willis. RESULTS: Among 301 patients, 34 patients (11.3%) had A1 segment hypoplasia/aplasia. They presented neurological symptoms such as chronic headache, dizziness and visual disturbance. Seven (20.6%) had family history of neurological illness. Twenty seven (79.4%) had A1 segment hypoplasia/aplasia only, and seven (20.6%) had another vascular abnormality. Seven (20.6%) showed abnormal brain magnetic resonance angiography (MRI) results, cerebral atrophy being the most frequent (n=5, 14.7%). The incidence of abnormal brain MRI was 11.1% (n=3) in single vascular abnormality and 57.1% (n=4), significantly higher (p-value 0.02) in combined abnormality group. CONCLUSION: Structural alterations in the cerebral vasculature in children have important pathophysiological and clinical implications. Evaluation of variations in the circle of Willis, especially of A1 segment hypoplasia/aplasia using MRA is recommended.
Anterior Cerebral Artery ; Atrophy ; Brain ; Child ; Circle of Willis ; Dizziness ; Headache Disorders ; Humans ; Incidence ; Magnetic Resonance Angiography ; Magnetic Resonance Spectroscopy ; Magnetics ; Magnets ; Retrospective Studies