Autoimmune hepatitis is a chronic necroinflammatory liver disorder of unknown cause associated with circulating autoantibodies and hypergammaglobulinemia. We report two pediatric cases of type 1 autoimmune hepatitis with normal serum immunoglobulin G levels who presented with fulminant hepatitis. The cases were associated with hereditary spherocytosis or atrioventricular septal defect. The first case was a 13-year-old boy with hereditary spherocytosis and gallstones. Acute cholecystitis and cholangitis developed during his clinical course and cholecystectomy, splenectomy and liver wedge biopsy were performed. The second case was an 8-year-old girl with repaired atrioventricular septal defect. In both cases, antinuclear antibody tests were positive and immunoglobulin G levels were normal. Interface hepatitis with moderate lobular inflammation were noted on their liver histology. They responded to the treatment of prednisolone and ursodeoxycholic acid.
Adolescent ; Antibodies, Antinuclear ; Autoantibodies ; Biopsy ; Child ; Cholangitis ; Cholecystectomy ; Cholecystitis, Acute ; Female ; Gallstones ; Hepatitis* ; Hepatitis, Autoimmune* ; Humans ; Hypergammaglobulinemia ; Immunoglobulin G* ; Immunoglobulins* ; Inflammation ; Liver ; Male ; Prednisolone ; Splenectomy ; Ursodeoxycholic Acid

Systemic capillary leak syndrome(SCLS) is a rare disorder of unknown etiology, which is characterized by recurrent attacks of hypotension, hemoconcentration, and hypoalbuminemia. Urinary or enteric loss of protein is not demonstrated. It is often associated with monoclonal gammopathy, but does not manifest multiple myeloma. Since Clarkson et al. described the first case in a 34- year-old woman, about 50 cases have been reported in the literature. However, most of the cases were of adult age, and the mean age of onset in the reported cases was 42.6 years. In literature review, we could refer only one pediatric case of SCLC by Foeldvari et al. in 1995. We report another pediatric case of SCLS.
Adult ; Age of Onset ; Capillaries ; Capillary Leak Syndrome* ; Child* ; Female ; Humans ; Hypoalbuminemia ; Hypotension ; Multiple Myeloma ; Paraproteinemias

Melkersson-Rosenthal syndrome(MRS) is a rare disorder, having a symptom triad of recurrent facial palsy, orofacial swelling and fissured tongue(lingua plicata). This disorder is usually recurrent or progressive, and monosymptomatic or oligosymptomatic forms have been reported to be more common than classic forms. Generally, MRS occurs in young adults at the end of the second decade of life and incidence of the disease in childhood is known to be very low. Although the clinical manifestation of MRS in children is similar to that in adults, early diagnosis and management is essential to avoid long-lasting functional disorders and psychological problems. We experienced MRS in a 13 year old boy with a history of recurrent facial palsy. We report this case with review of related literature.
Adolescent ; Adult ; Child ; Early Diagnosis ; Facial Paralysis ; Humans ; Incidence ; Male ; Melkersson-Rosenthal Syndrome* ; Young Adult

Fetal valproate syndrome has been described as a distinctive pattern of minor anomalies of the face and digits. This pattern has not been delineated completely but appears to involve brachycephaly with a high forehead, shallow orbit, ocular hypertelorism, small nose, small mouth, low set posteriorly rotated ears, long overlapping fingers and toes, and hyperconvex fingernail. Cleft palate and congenital heart disease have occasionally been described in babies exposed to valproate during embryogenesis. We report a neonate born from an epileptic mother receiving sodium valproate during pregnancy. This neonate presented with characteristic facial abnormalities, both elbow contractures, and overlapping of right first and second toe, forth and fifth toe, and left first and second toe. This case raises the possibility that these abnormal appearances might be caused by intrauterine valproate exposure.
Cleft Palate ; Contracture* ; Craniosynostoses ; Ear ; Elbow Joint* ; Elbow* ; Embryonic Development ; Female ; Fingers ; Forehead ; Heart Defects, Congenital ; Humans ; Hypertelorism ; Infant, Newborn ; Mothers ; Mouth ; Nails ; Nose ; Orbit ; Pregnancy ; Toes ; Valproic Acid*

Hyperekplexia or startle disease is a hereditary neurological disorder characterized by an abnormally exaggerated startle response to tactile, auditory and visual stimuli, together with a global muscular hypertonia and hyperactive tendon reflexes. This disease is a rare, genetically determined disorder, with an autosomal dominant inheritance with variable expression, first described by Suhren, et al. We report two cases of familial hyperekplexia, who developed hypertonia and pathologic startle response to tactile stimulation in the immediate neonatal period. The infant showed a marked improvement of the startle response and muscular hypertonia with low-dose clobazam.
Humans ; Infant ; Nervous System Diseases ; Reflex, Stretch ; Stiff-Person Syndrome* ; Twins* ; Wills

Glutaric aciduria(type 1) is characterized clinically by progressive dystonia and dyskinesia in childhood, pathologically by degeneration of caudate and putamen, biochemically by tissue deficiency of glutaryl-CoA dehydrogenase(GCDH), and is transmitted as an autosomal recessive traits. Mutations of the GCDH gene on chromosome 19 have been implicated in the causation of glutaric aciduria(type 1). Macrocephaly in infancy and crossing of percentiles for head circumference are real clues to early diagnosis. Acute neuroregression of dystonia following an initial phase of normal or almost normal development is a common mode of presentation, at times preceded by seizures. We experienced a case of glutaric aciduria(type 1) in a 13-month old girl. She was admitted due to development delay and choreoasthetoid movememt that developed after generalized tonic-clonic type seizures. She was diagnosed as having glutaric aciduria(type 1) based on brain MRI and urine organic acid analysis finding.
Brain ; Chromosomes, Human, Pair 19 ; Dyskinesias ; Dystonia ; Early Diagnosis ; Female ; Head ; Humans ; Infant ; Macrocephaly ; Magnetic Resonance Imaging ; Putamen ; Seizures

PURPOSE: To determine clinical features, laboratory findings and cardiac abnormalities of high- dose immune globulin(IVIG) retreatment in patients with Kawasaki disease, and to report effectiveness of retreatment. METHODS: Retrospective study of 174 children diagnosed with Kawasaki disease at Ewha Mokdong hospital from March, 1999 to July, 2001. RESULTS: Twenty(11.5%) of 174 patients were retreated with high-dose IVIG. After this, only two patients(1.1%) did not respond to IVIG retreatment. Patients with failure to respond to initial IVIG did not differ from the patients who responded to a single course of IVIG in sex, age, days of fever at initial IVIG and clinical characteristics. Compared with responders with single IVIG treatment, the patients who were retreated had significantly lower albumin(3.7 vs 3.4 g/dL, P< 0.05), higher ALT(118.2 vs 229.3 U/L, P<0.05) and CRP(8.9 vs 13.3 mg/dL, P<0.05). On echocardiography, patients who recieved IVIG retreatment were significantly more likely to have caronary abnormalities(45.0% vs 13.6%, P<0.05). CONCLUSION: Retratment with IVIG for persistent or recurrent fever was safe and effective.
Child ; Echocardiography ; Fever ; Humans ; Immunoglobulins, Intravenous* ; Mucocutaneous Lymph Node Syndrome* ; Retreatment* ; Retrospective Studies

PURPOSE: Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. METHODS: Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. RESULTS: The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. CONCLUSION: MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.
Codon, Nonsense ; Deceleration ; Diagnosis ; DNA ; Exons ; Female ; Gait Apraxia ; Hand ; Head ; Humans ; Parturition ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Rett Syndrome* ; Seizures ; Sequence Analysis, DNA ; Tremor

No abstract available.
Ascites* ; Pancreatitis, Chronic* ; Pleural Effusion*

No abstract available.
Rheumatic Fever*