A Case of 2-Methylbutyryl-CoA Dehydrogenase Deficiency / 소아과

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.

Comparison of Effectiveness between Two Different Protocols of Treatment of IV gamma-globulin in Idiopathic Thrombocytopenic Purpura

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.

MR Imaging of Disseminated Tuberculosis of the Brain in a Patient with Miliary Tuberculosis: Initial Findings and Changes Six Months after Antituberculous Therapy

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.

Idiopathic Thrombocytopenic Purpura

No abstract available.

The Correlation Between the TSH Level in Neonatal Screening Test and the Prognosis of Congenital Hypothyroidism

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.

The Annual and Seasonal Changes in the Prevalence of Rotaviral Infection from: 1993 to 1998

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).

A Case of Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

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.

A Case of Congenital Hypopituitarism with Anterior Pituitary Hypoplasia and Ectopic Posterior Pituitary Gland

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.

A Case of Congenital Hypopituitarism with Anterior Pituitary Hypoplasia and Ectopic Posterior Pituitary Gland

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.

A Case of DiGeorge Syndrome

We experienced a case of DiGeorge syndrome in a 25-day-old male infant presented with micrognathia, short neck, fish-shaped mouth and intractable seizures with a loading dose of phenobarbital & dilantin. The serum calcium level was 3.7mg/dl, ionized calcium level was 0.62mmol/L, and parathyroid hormone carboxy-terminal level was 0.01ng/ml. We treated with it calcium gluconate infusion, low phosphorous formula milk feeding, and 1,25 (OH) 2D3. The serum calcium level was normalized in 3 days but fever and diarrhea symptom continued for 3 weeks. T-cells decreased, no thymus shadow was visible in chest MRI, and no reaction to delayed hypersensitivity skin test was detected at 9 months old. He has been followed up at the outpatient department, showing normal calcium level with the supplementation of calcium gluconate and 1,25 (OH) 2D3 for 10 months. A brief review of literatures was made.

On the Significance of Blood Sampling Time in Neonatal Neurologic Prognosis Using Creatine Kinase BB

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.

A Case of Trisomy 9 Syndrome

Since Feingold and his collegues first described the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and incompatible with a long life. Before this report, this syndrome has not been reported in Korea. A neonate was diagnosed trisomy 9 syndrome by clinical feature and chromosomal study. He had multiple anomalies such as broad-based nose, partially cleft lip, ambiguous genitalia, hyperconvex nails, overriding of fingers, and ventricular septal defect. The patient died at home on the 113th day of life.

A Case of Slowly Progressing Aneurysm of Left Ventricle and Thoracic Aorta Due to Automobile Blunt Trauma

A five-year-old boy received a blunt trauma on chest by a kindergarten bus on Feb. 29, 1996. Pulmonary hemorrhage and pericardiac effusion were developed, followed by multi-organ failure threatening his life. All symptoms were improving when pansystolic harsh murmur (III/IV) originating from a tiny ventricular rupture with a blood leak to the pericardial space was auscultated on the 12th day after the trauma. This murmur disappeared with the left ventricular healing and progressive aneurysmatic formation. Howeve, on the 61st day after the trauma a continuous murmur (II/III) of aortic dissecting aneurysm on the left upper sternal border and dorsum was newly auscultated. Two-dimensional color doppler echocardiogram and aortogram by femoral artery catheterization revealed aneurysmatic dilatations of both the left ventricular free wall and descending aorta immediately after the origin of the subclavian artery with mild mitral regugitation. The patient underwent successful corrective surgery.

A Case of Congenital Lobar Emphysema on Right Lower Lobe

Congenital lobar emphysema is a rare disease and a cause of respiratory disturbance in newborns and infancts. The common locations of pulmonary involvement are the left upper lobe, right middle and upper lobe. We experienced a case of congenital lobar emphysema in a 9-month-old male infant. Chief complaints were dyspnea and tachypnea. Chest X-ray or CT scan revealed a hyperinflated right lower lobe, mediastinal shift to the left side and retrosternal herniaton of right lung. There was no evidence of infection and foreign body. This patient was successfully treated with right lower lobectomy. We report this case with a brief review of related literatures.

A Case of Congenital Lobar Emphysema on Right Lower Lobe

Congenital lobar emphysema is a rare disease and a cause of respiratory disturbance in newborns and infancts. The common locations of pulmonary involvement are the left upper lobe, right middle and upper lobe. We experienced a case of congenital lobar emphysema in a 9-month-old male infant. Chief complaints were dyspnea and tachypnea. Chest X-ray or CT scan revealed a hyperinflated right lower lobe, mediastinal shift to the left side and retrosternal herniaton of right lung. There was no evidence of infection and foreign body. This patient was successfully treated with right lower lobectomy. We report this case with a brief review of related literatures.

Clinical Trial of 2g/kg/day of Intravenous Immunoglobulin Single Dose as Compared with 400mg/kg/day of Intravenous Immunoglobulin for 5days in Kawasaki Disease

PURPOSE: Since the effect of intravenous immunoglobulin (IVIG) therapy in Kawasaki disease was reported in 1984, the combined therapy of IVIG & oral aspirin has been popular. In early period, the protocol of 400mg/kg/day for 3-5 days of IVIG had been used, but rescently, the protocol of 2g/kg/day single dose has been preferred. So authers performed a clinical study to compare th efficacies & side effects between 400mg/ kg/day for 5 days & 2g/kg/day single dose of IVIG plus oral aspirin (100mg/kg/ day). METHODS: Seventy five patients who admitted to Eulji medical college hospital from January 1990 to July 1996 were evaluated retrospectively. Twenty nine patients (Group A) were treated with 400mg/kg/day for 5 days of IVIG plus aspirin (100mg/kg/day) and 46 patients (Group B) were treated with 2g/kg/day single dose of IVIG plus oral aspirin (100mg/kg/day). RESULTS: 1) The duration of fever after treatment was not significant difference between two groups (Group A, 25.5+/-30.3 days : Group B, 29.7+/-44.5 days P=0.7440) 2) The total admission days were significant difference between two groups (Group A, 9.9+/-0.4; Group B, 8.2+/-3.0, P=0.0308). 3) The incidence of side effects was not significant difference between two groups (Group A, 62%; Group B, 80%, P=0799). 4) The attack rate of coronary artery involvement was not significant difference between two groups (Group A, 34.5%; Group B, 26%, P=0.1198) 5) The case of re-treatment of IVIG due to relapse was not in Group A, but 5 in Group B (P=0.0661). 6) The mean platelet counts at admission were not difference between two groups (Group A, 434.4+/-17.2x103/mm3; Group B, 374.0+/-13.3x103/mm3, P=0.1449), but on the 7th hospital day, platelet counts were significant differnece between two groups (Group A, 531.9+/-16.5x103/mm3; Group B, 419.8+/-19.0x103/mm3, P=0.0066). 7) There was no significant difference in laboratory findings on admission and in the rate of coronary artery involvement between recurrent and non-recurrent cases of Group B. Conculusions : We conculuded that the protocol of 2mg/kg/day single dose of IVIG in Kawasaki disease may be have some benefits of shorter admission days and less coronary artery involvement, but the incidence of side effects and relapse rate might be less in the protocol of 400mg/kg/day of IVIG for 5 days.

A Case of Secondary Pulmonary Hemosiderosis in a severe Hemophilia A with High Titer of FactorVIII Inhibitor / 대한소아혈액종양학회지

An 18-Year-old male hemophiliac with high titer of factorVIII inhibitor, stage V hemophilic arthropathy in right knee joint and a history of hematuria and retroperitoneal hemorrhage was admitted because of acute and massive bleeding of epistaxis, pulmonary hemorrhage and intestinal bleeding. The bleeing was not controolled by massive infusion of factorVIII concentrates but by prothrombin complex concentrates and high dose of factorVIII concentrates. He showned symptoms of sustained fever and diffuse pulmonary infiltration which was diagnosed as pulmonary hemosiderosis by MRI. We suppressed his immune reaction by prednisolne to prevent the formation of factorVIII inhibitor. He has been followed up for 3 years and shown no massive bleeding there-after.

Significance of Creatine Kinase Isoenzymes for Neurologic Outcome in Perinatal Asphyxia

PURPOSE: To investigate the usefulness of the serum Creatine kinase(CK), especially brain typical creatine kinase(CK-BB) as an indicator of brain damage extent, mortality and long term nurologic sequelae, the study was done. METHODS: CK and CK isoenzyme activites were measured at 6-10 hours after birth in 160 asphyxiated newborn infants who admitted in Eulji General Hospital from August 1990 to July 1994. Infants were followed up for 1 years after birth to evaluate survival and neurologic outcome. RESULTS: 1) There was low correlation between CK-BB and 5 minute Apgar score(r=0.245, p=0.0026). 2) There was intermediate correlation between CK-BB and Lactic dehydrogenase (LDH)(r=0.470, p<0.0001). 3) Infants who died within 24 hours after birth had significantly higher CK-BB activity(144.9+/-98.5U/L) than survivors(82.2+/-159U/L), (p=0.0160). Infants who died within 72 hours after birth had significantly higher CK-BB activity(130.2+/-108.4U/L) than survivors(80.5+/-161.1U/L), (p=0.0209) 4) Infants who died within 24 hours after birth had significantly higher CK-BB%(23.4+/-17.4%) than survivors(9.6+/-11.9%), (p=0.0042). Infants who died within 72 hours after birth had significantly higher CK-BB%(20.0+/-15.4%) than survivors(9.3+/-11.8%), (p= 0.0027). Infants who died within 28 days after birth had significantly higher CK-BB% (12.7+/-13.4%) than survivors(9.7+/-12.3%), (p=0.0500). 5) In the cases of neonatal seizure in 24-48 hours after birth, CK-BB was higher than in the cases of no seizure or seizure in 48 hours after birth. 6) CK-BB was well correlated to the grade of hypoxic ischemic encephalopathy. 7) CK-BB, CK-BB% and 5 minute Apgar score showed similar positive and negative predictive values for survival rate, abnormal findings of imaging studies and neurologic outcomes. CONCLUSIONS: CK-BB is a good predictive value for the death within 24 and 72 hours after birth and the neonatal seizure in 24-48 hours after birth. CK-BB% is a good predictive value of the death within 24, 72 hours and 28 days after birth. CK-BB, CK-BB% and 5 minute Apgar score showed similar predictivity for neurologic outcomes during 1 years after birth.

A Case of Pyloric Atresia Associated with Epidermolysis Bullosa

We have experienced a case of congenital pyloric atresia associated with epidermolysis bullosa in a premature newborn who was born at the gestation period of 33+3 week. She showed a few blisters on left ankle at birth and the easy formation of blisters involving the area of trauma or friction with depigmentation after healing. The histologic finding of the lesion showed junctional epidermolysis bullosa. Abdominal roentgenographic finding on day 2 showed single bubble sign. That suggested pyloric atresia. It was confirmed by upper gasrtointestinal series radiography and corrected by surgery, gastrojejunostomy on day 16. She discharged on day 50. The severity of the formation of blisters decreased but the poor weight agin became the main problem. The brief review of literatures was made.

A Case of Septo-Optic Dysplasia

Septo-optic dysplasia, as first described by de Morsier, is a rare developmental anomaly involving optic nerve hypolasia, midline anomalies of the brain and variable hypothalamic-pituitary dysfunction. We experienced a case of septo-optic dysplasia in 56-day old male infant who presented with prolonged jaundice. A magnetic resonance imaging of the brain showed absence of the septum pellucidum and the ophthalmoscopic examination disclosed left optic nerve hypoplasia. Thus, we reported it with a brief review of literatures.