• Clinical and Experimental Pediatrics
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• v.46 no.7
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• pp.718-721
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• 2003

The isoimmune hemolytic disease of newborn due to the incompatibility of minor blood groups is characterized by progressive neonatal hyperbilirubinemia and anemia caused by the IgG antibody transmitted from the mother to the fetus. Recently we had a case of hemolytic disease in a newborn due to $anti-Jk^b$. There were no ABO and Rh(D) incompatibilities between mother and baby. The infant's direct and indirect antiglobulin tests were strongly positive. From the mother and baby, an irregular antibody was found and identified as $anti-Jk^b$. Generally, hemolytic disease of the newborn resulting from $anti-Jk^b$ incompatibility has a benign clinical course and a good prognosis. This patient completely recovered without exchange transfusion. We report this case with a brief review of relevant literature.

• Clinical and Experimental Pediatrics
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• v.49 no.12
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• pp.1296-1300
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• 2006

Purpose : We studied the usefulness of transcutaneous bilirubinometers in follow-up of bilirubin levels during phototherapy in neonatal jaundice patients. Methods : Transcutaneous bilirubin (TcB) was measured twice per day on 90 neonatal jaundice patients without risk factors of jaundice by transcutaneous bilirubinometer JM-103(Minolta/Hill-Rom Air-shields, Japan). TcB was measured simultaneously on the patched-forehead (TcB-PF), patchedchest(TcB-PC), unpatched-forehead (TcB-UF) and unpatched-chest (TcB-UC) of infants with neonatal jaundice. Plasma bilirubin (PB) was measured by American Optical bilirubinometer (American Optical Co, Buffalo, USA) within 30 minutes after transcutaneous bilirubinometer measurement. Each TcB was compared with PB. Results : In the study group, the mean gestational age was $38.6{\pm}1.3wk$, the mean birthweight was $3,207.0{\pm}472.1g$, the mean age at start of phototherapy was $4.9{\pm}0.9days$ and the mean duration of phototherapy was $1.3{\pm}0.6days$. The correlation between TcB and PB level was observed. The correlation between TcB of the patched part (TcB-PF, TcB-PC) and PB was more significant than that of the unpatched part (TcB-UF, TcB-UC) and PB. The most significant correlation was between PB and TcB-PC. Conclusion : TcB was useful in the follow-up of jaundice during phototherapy as well the screening of jaundice in neonatal jaundice patients. TcB of patched-chest area was the most reliable site in transcutaneous bilirubinometer examination in neonatal jaundice patients.

• Clinical and Experimental Pediatrics
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• v.52 no.3
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• pp.289-294
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• 2009

Purpose : To assess the usefulness of magnetic resonance imaging (MRI), karyotyping, brainstem auditory evoked potential (BAEP), electroencephalogram (EEG), tandem mass screening test, and newborn metabolic screening test in children with language delay for diagnosing underlying diseases. Methods : From January 2000 to June 2007, a retrospective chart review was performed for 122 children with language delay who visited the Child Neurology Clinic at Yeungnam University Hospital and who underwent neuropsychologic tests and other diagnostic evaluations for underlying diseases. They were grouped into phenomenological diagnostic categories, and test results were analyzed according to the underlying diseases. Results : Of 122 patients, 47 (38.5%) had mental retardation, 40 (32.8%) had developmental language disorders, 23 (18.9 %) had borderline IQ, and 12 (9.8%) had autism spectrum disorder. In 26 (21.3%) cases, the causes or relevant clinical findings to explain language delay were found. Eight (10.4%) of 77 MRIs, 6 (8.0%) of 75 EEGs, and 4 (5%) of 80 BAEPs showed abnormal results. Results directly attributed to diagnosing underlying diseases were 2 hearing defects in BAEPs and 1 bilateral perisylvian cortical dysplasia in MRIs. No abnormal results were found in karyotyping, tandem mass screening tests, and new-born screening tests. Conclusion : Commonly used tests to diagnose the cause of language delay are not very effective and should only be used selectively, according to patient characteristics. However, despite the low diagnostic yields from these tests, because many patients show abnormal results, these tests are useful when conducted in complete evaluation.

• Clinical and Experimental Pediatrics
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• v.51 no.6
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• pp.616-621
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• 2008

Purpose : This study was undertaken to identify factors that influence 17-OHP levels in preterm infants and to suggest a reasonable follow-up schedule of screening for congenital adrenal hyperplasia (CAH) in preterm infants. Methods : The 17-OHP concentrations in filter paper blood spots of 427 preterm infants were obtained. The effects of gestational age (GA), systemic diseases, and antenatal dexamethasone on screening and follow-up 17-OHP values were investigated. Results : The screening 17-OHP values were markedly variable (range: 0.1-143.3 ng/mL). The screening 17-OHP levels were negatively correlated with GA (r=-0.535, P<0.01). In infants with GA<32 weeks, the screening 17-OHP levels were significantly higher in sick infants or infant with hypotension than in healthy infants. The screening values of prenatal dexamethasone-treated infants had a tendency to be low. In infants with initial 17-OHP values ${\geq}20ng/mL$, the intervals until rescreening 17-OHP <10 ng/mL or serum 17-OHP <20 ng/mL were negatively correlated with GA (r=-0.541, P<0.01) and were prolonged in infants with bronchopulmonary dysplasia (P<0.01). None of the preterm infants were confirmatively diagnosed with CAH. Conclusion : The 17-OHP values of preterm infants were influenced by GA, prenatal dexamethasone, and postnatal diseases. Because the 17-OHP values of preterm infants were markedly variable, a follow-up schedule should be developed considering both 17-OHP values and clinical status.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.10 no.1
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• pp.27-30
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• 2010

3-Methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an autosomal-recessive inborn error of leucine catabolism caused by the deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC). With the introduction of tandem mass spectrometry in newborn screening, this disorder has been identified with unexpectedly high prevalence. The clinical manifestations of 3-MCCD are highly variable ranging from asymptomatic to severe neurological manifestations. 3-MCC is an heteromeric enzyme consisting of ${\alpha}$ - and ${\beta}$ - subunits, encoded by the MCCC1 and the MCCC2 gene, respectively. In the currentreport, a Korean patient with 3-MCCD is described. She was identified by newborn screening test, and has been asymptomatic with normal development and intelligence up to 3.8 years of age. She carries p.[D280Y]+[D280Y] mutations in the MCCC2 gene.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.16 no.2
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• pp.57-61
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• 2016

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic acid disorder due to a defect of the enzyme isovaleryl-CoA dehydrogenase in the leucine metabolic pathway. Deficiency of this enzyme results in the accumulation of derivatives of isovaleryl-CoA. In acute illness in IVA, isovaleric acid and its derivatives accumulate and profound metabolic acidosis with ketosis, characteristic pungent body odor, hypoglycemia, and hyperammonemia can be developed. Additionally, recurrent vomiting, failure to thrive, developmental delay, epilepsy and mental retardation are chronic presenting symptoms and signs for IVA. On the result of newborn screening for inherited metabolic disorders, increased levels of isovalerylcarnitine (C5) are shown. However, C5 elevation can be accompanied with short/branched-chain acyl-CoA dehydrogenase (SBCAD) and therapy with certain antibiotics containing pivalic acid. Quantitative measurement of organic acids in urine and acylcarnitine profiles in plasma are necessary to differential diagnosis. Molecular genetic analysis of the IVD gene for IVA and ACADSB is also helpful to confirm IVA and SBCAD deficiency, respectively. Considering that IVA can be associated with significant morbidity and mortality at acute presentation of metabolic crisis, early diagnosis prior to the onset of symptoms by newborn screening enable to introduction of early treatment and prevention of acute and chronic complications.

• Neonatal Medicine
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• v.17 no.2
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• pp.250-253
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• 2010

Citrullinemia type I is an urea cycle defect caused by mutations in the argininosuccinate synthetase (ASS1) gene. We report a novel argininosuccinate synthetase gene mutation in a Korean family with type I citrullinemia. Metabolic evaluation revealed significant hyperammonemia. Amino acid/acylcarnitine screening using tandem mass spectrometry showed high level of citrulline. Plasma amino acid analysis showed high level of citrulline and the urine organic acid analysis showed makedly increased level of orotic acid. To confirm diagnosis of citrullinemia we did mutation analysis of the ASS1 gene. The patient was found to have mutations of c.689G>C (p.G230A) and c.892G>A (p.E298K), which were new types of argininosuccinate synthetase gene mutation have never been reported in Korea. We report a novel case of argininosuccinate synthetase 1 gene mutation and suggest that the gene study to the family members is necessary to carry out when a patient is diagnosed as citrullinemia.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.2
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• pp.93-97
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• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

• Journal of the Institute of Electronics Engineers of Korea SC
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• v.46 no.2
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• pp.15-21
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• 2009

Hearing loss is one of the most common birth defects among infants. Most of hearing-impaired children are not diagnosed until 1 to 3 years of age - which is too late for the critical period (6 month) for normal speech and language development. If a hearing impairment is identified and treated in its early stage, child's speech and language skills could be comparable to his or her normal-hearing peers. For these reasons, hearing screening at birth and throughout childhood is extremely important. ABR (Auditory brain-stem response) is nowadays one of the most reliable diagnostic tools in the early detection of hearing impairment. In this study, we have developed the system that automatically detects if there is hearing impairment or not for infants or children. For future studies, it will be developed as a portable system to be able to take a measurement not only in sound proof room but also in nursery for neonates.

• Korean Journal of Clinical Laboratory Science
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• v.39 no.2
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• pp.113-121
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• 2007

Hearing loss is a common congenital disorder that is frequently associated with mutations in the Cx26 gene (GJB2). Recently, the mutation analysis of GJB2 has been used in a newborn screening test for the detection of hearing impairment. Population-based studies should be performed before the application of genetic testing for the identification of deaf newborns. In this study, 8 positions of GJB2 mutations-including 35delG, 167delT, 235delC, V27I, V37I, M34T, E114G, and I203T-were analyzed using PCR-direct sequencing in a total of 437 healthy Korean neonates. DNAs from dried blood spots were extracted using a commercial DNA extraction kit. The PCR-amplified products (783 bps) of the GJB2 gene were detected using 2% agarose gel electrophoresis and subjected to direct sequencing. The sequences were compared with those in the GenBank database by using the BLAST program. In this study, 5 GJB2 mutations -including V27I (79G>A), V37I (109G>A), E114G (341A>G), I203T (608T>C), and 235delC- were found. Of the 437 neonate samples, 301 subjects showed GJB2 mutations (68.9%, 301/437). The V27I mutation was found in 271 subjects and was the most frequent (62.0%, 271/437). The E114G, I203T and V37I mutations were shown in 146, 17 and 14 subjects, respectively. The 235delC mutation was found in 1 subject. The E114G mutation was frequently accompanied by the V27I mutation. V27I/E114G (97.2%, 143/147) was the most common double mutation and 3 subjects had the double mutation V27I/I203T. A triple mutation, V27I/E114G/I203T, was found in 1 subject. In conclusion, PCR-direct sequencing is a convenient tool for the rapid detection of GJB2 mutations and this data might provide information for the genetic counseling of the GJB2 gene.