We report a one-day-old Korean boy with 2-Methylbutyryl-CoA dehydrogenase(2-MBCDase) deficiency detected by urine organic acid and acylglycine analysis, plasma acylcarnitine analysis and confirmed by enzyme assay and Western blot. The patient was born at 35 weeks and three days with oligohydroamnios and premature rupture of membrane for 31 hours, as a second child of healthy non-consanguineous parents. There was no significant family history and spontaneous abortion. He was admitted at NICU under ventilator care due to prematurity, respiratory difficulty, and decreased generalized muscle tone. During the first week of hospitalization, he presented with disseminated intravascular coagulation and sepsis. A grade IV intraventricular hemorrhage on brain sonography was observed on the 7th day after birth with seizure. The clinical course of aggravation and recovery was repeated for one month. In laboratory tests, blood C5-acylcarnitines(isovaleryl/ methylbutyrylcarnitine) and urine 2-methylbutyrylglycine(2-MBG) were markedly elevated; butyrylglycine and isobutyrylglycine were also detected in small amounts in the urine. SBCAD(short branched-chain acyl-CoA dehydrogenase) enzyme activity was undetectable in cultured skin fibroblasts and Western blot showed no detectable immuno-reactive protein. Molecular analysis of the 2-MBCD gene revealed a polymorphism in the leader peptide region(38G>A; Arg13Lys) and homozygous for a non-coding polymorphism 639T>C. This is the first such case in Korea. This disorder is known to be relatively common in one other oriental ethnic group, the Hmong. The baby has been fed on a maple syrup urine disease(MSUD)-similar diet program, and is still alive and is 26-months-old now. However, he developed significant neurologic complications including communicating hydrocephalus, cerebral palsy, and blindness. Presumably the prematurity and its complications may also attribute to his severe neurologic problems. However, the clinical course was particularly severe, a finding in contrast with the observation from several asymptomatic Hmong cases. The clinical course of 2-MBCDase deficiency could be very variable and careful monitoring and follow up should be considered.
Abortion, Spontaneous ; Acer ; Blindness ; Blotting, Western ; Brain ; Cerebral Palsy ; Child ; Diet ; Disseminated Intravascular Coagulation ; Enzyme Assays ; Ethnic Groups ; Female ; Fibroblasts ; Follow-Up Studies ; Hematologic Tests ; Hemorrhage ; Hospitalization ; Humans ; Hydrocephalus ; Korea ; Male ; Membranes ; Oxidoreductases* ; Parents ; Parturition ; Plasma ; Pregnancy ; Protein Sorting Signals ; Rupture ; Seizures ; Sepsis ; Skin ; Ventilators, Mechanical

PURPOSE: Several methods of IV gamma-globulin(IVG) infusion are effective in the treatment of autoimmune disease, including idiopathic thrombocytopenic purpura(ITP). But it is not known which method is more effective in the treatment of ITP. The effectiveness of these two methods of IVG infusion was studied in terms of platelet recovery rate, side effects and recurrence rate. METHODS: Forty seven patients with acute ITP in the department of pediatrics, Eulji University Hospital from January 1995 to June 2001 were enrolled. We assesssed the treatment effects of 47 patients blindly selected; IV gamma-globulin 2 g/kg/day in one day(treatment group A, n=25), 400 mg/ kg/day in five days(treatment group B, n=22). RESULTS: Treatment group A increased platelet count more rapidly on the 2nd, 4th and 6th day of treatment than treatment group B. Side effects like fever, chill and vomiting were more frequent in treatment group A than treatment group B. The platelet count on the sixth day of treatment showed a greater increase in the cases which had side effects than in the cases which did not. There was no difference between the two groups in the recurrence rate. CONCLUSION: IV gamma-globulin 2 g/kg/day in one day increases platelet count more rapidly than 400 mg/kg/day in five days, and is favorable for the prevention of a severe hemorrhagic episode like early intracranial hemorrhage.
Autoimmune Diseases ; Blood Platelets ; Fever ; gamma-Globulins* ; Humans ; Intracranial Hemorrhages ; Pediatrics ; Platelet Count ; Purpura, Thrombocytopenic, Idiopathic* ; Recurrence ; Vomiting

A 23-month-old girl visited with chronic cough and her chest radiograph showed miliary tuberculosis. There was no neurological abnormality. But CSF findings showed WBC 22/mm3(lymphocyte 20%, neutrophil 80%) and positive result of polymease chain reaction(PCR) for M. tuberculosis. MR imaging showed multiple ring enhanced nodules and ovoid nonenhancing bright signal lesion on the cerebrum, cerebellar parenchyme, and left basal ganglia. Antituberculous chemotherapy was done and follow-up MR imaging was done after six months. One month after treatment, the number and size of nodules had decreased. Six months after treatment, the multiple enhanced nodules and leptomeningeal enhancement were not observed, and high signal intensity of genu portion of left internal capsule and posterior portion of putamen were decreased.
Basal Ganglia ; Brain* ; Cerebrum ; Cough ; Drug Therapy ; Female ; Follow-Up Studies ; Humans ; Infant ; Internal Capsule ; Magnetic Resonance Imaging* ; Neutrophils ; Putamen ; Radiography, Thoracic ; Tuberculosis* ; Tuberculosis, Meningeal ; Tuberculosis, Miliary*

PURPOSE: It is important to diagnose and treat newborn patients with congenital hypothyroidism as soon as possible because of neurodevelopmental outcome. If we can detect more severe forms of congenital hypothyroidism with neonatal screening test, the results of treatment will improve. METHODS: Sixty-four term infants whose TSH levels in neonatal screening test had been higher than 20 micro-International Unit were recalled. Their serum levels of T3, T4, TSH and thyroid scans were checked. They were divided into two groups according to the results, in which T group had transient thyroid disease and P group had permanent congenital hypothyroidism. The TSH levels in neonatal screening test between the two groups were compared and correlated with T3, T4 and TSH levels in their serum. RESULTS: The number of patients of T and P groups were 43 and 13 respectively. The mean TSH level of both group in neonatal screening test was 28.6 micro-International Unit/mL and 55.7 micro-International Unit/mL respectively. The mean TSH level in neonatal screening test is significantly higher in P than T group(P<0.05). If we choose 48 micro-International Unit/mL as a cutoff value, the sensitivity of detecting the P group is 77% and the specificity is 100%. The TSH levels in neonatal screening test had a positive correlation with the serum TSH levels and a negative correlation with the serum T4 levels(r=0.56 P<0.01, r=-0.53 P<0.01). CONCLUSION: If the TSH level in neonatal screening test is greater than 48 micro-International Unit/mL, there is a greater possibility of the permanent and severe congenital hypothyroidism. So we should try to diagnose and treat them more quickly.
Congenital Hypothyroidism* ; Humans ; Infant ; Infant, Newborn ; Neonatal Screening* ; Prognosis* ; Sensitivity and Specificity ; Thyroid Diseases ; Thyroid Gland

No abstract available.
Purpura, Thrombocytopenic, Idiopathic*

Megacystis Microcolon Intestinal Hypoperistalsis(MMIH) Syndrome is a rare cause of functional neonatal bowel obstruction, characterized by hypoperistalsis, narrow distal ileum and colon, and bladder distension. We report a case of MMIH syndrome and review the literature. The patient was born after 34 weeks of gestation with marked abdominal distension. Her birth weight was 2,830g with 276ml of urine drained by catheter. Prenatal ultrasonic findings were bladder distension, hydronephrosis and possible intraabdominal mass. Supine view of abdomen on third day of life showed dilated loops of proximal small bowel and stomach without colonic gas shadow. Preoperative diagnosis was intestinal obstruction. When the abdomen was opened, the distal ileum was filled with meconium and postoperative diagnosis was meconium plug syndrome. Ganglion cells were present in the ileal biopsy. All postoperative attempts to feed her resulted in bilous vomiting. Voiding cystourethrography done on the 4th day after colon study showed markedly distended bladder, contrast enhanced microcolon and hypoperistalsis. She was dischaged against medical advice by her parents at the age of 23 days and died at home at the age of 33 days.
Abdomen ; Biopsy ; Birth Weight ; Catheters ; Colon ; Diagnosis ; Ganglion Cysts ; Humans ; Hydronephrosis ; Ileum ; Intestinal Obstruction ; Meconium ; Parents ; Pregnancy ; Stomach ; Ultrasonics ; Urinary Bladder ; Vomiting

PURPOSE: Rotavirus infection is a leading cause of severe gastroenteritis among infants and young children worldwide. In temperate regions, institutional outbreaks of the disease occur mainly in cold dry weather, whereas in tropical settings its seasonal course is less well defined. We studied the annual changes in the seasonal prevalence of rotavirus infection for 5 years. METHODS: The study was conducted on 502 patients who lived in Taejon city and its vicinity. They were diagnosed with rotavirus gastroenteritis by stool latex coagulation method in Eulji Medical College Hospital from July 1993 to June 1998. RESULTS: During the 5-years period, 502 fecal specimens were positive by rotavirus latex coagulation method. The peak of the infection occurred in 1994 (July 1994-June 1995), 152 cases (30.3%) from July 1994 to June 1995 and the next peak occurred in 111 cases (22.1%) from July 1993 to June 1994. The seasonal peaks of the infection occurred in December 1993 (17.1%) and January 1994 (21.1%) and in March 1996 (23.4%) and March 1997 (22.5%). CONCLUSOIN: We observed that the seasonal peak in rotavirus infection changed over a 5-year period. The timing of rotavirus activity peaked during December-January(1993 and 1994), Februray-March (1996), and March-April (1997).
Child ; Daejeon ; Disease Outbreaks ; Gastroenteritis ; Humans ; Infant ; Latex ; Prevalence* ; Rotavirus ; Rotavirus Infections ; Seasons* ; Weather

The pituitary gland develops from two different parts of the brain. The anterior pituitary gland originates from the Rathke pouch and the posterior one from the infundibulum. Therefore, the pathologic findings of congenital hypopituitarism can be different in each case. Congenital hypopituitarism is a rare disorder. The characteristic clinical features of the affected newborns are prolonged jaundice, persistent or recurrent hypoglycemia without hyperinsulinism and microphallus. Their genitalia are usually underdeveloped and sexual maturation may be delayed or absent. In adulthood, patients retain childish feature, short stature with normal body proportion. We experienced a case of congenital hypopituitarism in a 12-year-old female patient with short stature and delayed sexual maturation(Tanner stageI). The endocrinological studies revealed growth hormone, FSH, LH and TSH deficiencies. Magnetic resonance imaging indicated a hypoplastic anterior pituitary and an ectopic posterior pituitary gland located within the tuber cinereum of the hypothalamus.
Brain ; Child ; Female ; Genitalia ; Growth Hormone ; Humans ; Hyperinsulinism ; Hypoglycemia ; Hypopituitarism* ; Hypothalamus ; Infant, Newborn ; Jaundice ; Magnetic Resonance Imaging ; Pituitary Gland ; Pituitary Gland, Anterior ; Pituitary Gland, Posterior* ; Sexual Maturation ; Tuber Cinereum

The pituitary gland develops from two different parts of the brain. The anterior pituitary gland originates from the Rathke pouch and the posterior one from the infundibulum. Therefore, the pathologic findings of congenital hypopituitarism can be different in each case. Congenital hypopituitarism is a rare disorder. The characteristic clinical features of the affected newborns are prolonged jaundice, persistent or recurrent hypoglycemia without hyperinsulinism and microphallus. Their genitalia are usually underdeveloped and sexual maturation may be delayed or absent. In adulthood, patients retain childish feature, short stature with normal body proportion. We experienced a case of congenital hypopituitarism in a 12-year-old female patient with short stature and delayed sexual maturation(Tanner stageI). The endocrinological studies revealed growth hormone, FSH, LH and TSH deficiencies. Magnetic resonance imaging indicated a hypoplastic anterior pituitary and an ectopic posterior pituitary gland located within the tuber cinereum of the hypothalamus.
Brain ; Child ; Female ; Genitalia ; Growth Hormone ; Humans ; Hyperinsulinism ; Hypoglycemia ; Hypopituitarism* ; Hypothalamus ; Infant, Newborn ; Jaundice ; Magnetic Resonance Imaging ; Pituitary Gland ; Pituitary Gland, Anterior ; Pituitary Gland, Posterior* ; Sexual Maturation ; Tuber Cinereum

PURPOSE: To investigate the cut-off value of creatine kinase (CK) BB according to blood sampling time in predicting neonatal prognosis, we studied the time-related releasing pattern of CK isoenzymes after birth asphyxia. METHODS: CK was measured within 1 hour and at 6-10 hours after birth from 45 newborn infants who were suspected to be perinatal asphyxia or fetal distress. The infants were followed up for 1 year to evaluate neonatal prognosis. RESULTS: Total CK, CK-MM, CK-BB and CK-BB% from blood samples within 1 hour after birth were 758.6U/L, 588.7U/L, 105.7U/L and 17.5%, respectively, and those at 6-10 hours after birth were 1,298.0U/L, 1,127.1U/L, 57.7U/L and 6.6%, respectively. When the cut-off value of CK-BB measured within 1 hour after birth was set to 200U/L, positive predictive value (PP) was 0.38 and negative predictive value (NP) was 0.76 for infants who died within 28 days. For neurologic sequelae on 1-year-old PP and NP are 0.33 and 0.76 respectively, for neonatal seizures, 0.38 and 0.92, for abnormal brain sonogram cases 1.0 and 0.88, repectively. CONCLUSION: CK-BB and CK-BB% were measured significantly higher within 1 hour after birth than at 6-10 hours after birth. Because of different CK-BB levels between 2 separate sampling times, we have to use 2 different cut-off values. It is recommended that cut-off values for CK-BB and CK-BB%, measured within 1 hour after birth, are 200U/L and 20%, respectively and cut-off values for CK-BB and CK-BB% measured in 6-10 hours after birth are 100U/L and 10%, respectively.
Asphyxia ; Brain ; Creatine Kinase* ; Creatine* ; Fetal Distress ; Humans ; Infant ; Infant, Newborn ; Isoenzymes ; Parturition ; Prognosis* ; Seizures