• Advances in pediatric surgery
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• v.5 no.2
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• pp.146-151
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• 1999

Neurocristopathy originates from aberrant development of the neural crest by genetic abnormality. Dysgenetic or neoplastic neurocristopathy mayor may not combine at one or more organs. Congenital central hypoventilation syndrome (Ondine's curse) is characterized by the respiratory depression during sleep, although showing normal ventilation while awake, because the baby does not responde to hypercapnea or hypoxia. One newborn girl, full-term, 3,020 g of birth weight with neurocristopathy is reported. It showed poor respiration at birth, and temporary Improvement with oxygen and respiratory stimulations. Abdomen was distended. Abdominal x-ray revealed small bowel obstruction and calcified opacity at the right lower quadrant. Because transitional zone was noticed at the distal jejunum during laparotomy, jejunostomy was performed. Several times trial of extubation have failed becaused of the repeated apneas. Brain sonography and echocardiogram were normal. The patient died of sepsis at 37 days of age. Para-aortic ganglioneuroblastoma was found at autopsy. In this case, congenital central hypoventilation syndrome, Hirschsprung's disease and congenital ganglioneuroblastoma are combined as a neurocristopathy.

• Neonatal Medicine
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• v.28 no.3
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• pp.133-138
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• 2021

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

• Journal of the Korean Society of Radiology
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• v.83 no.5
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• pp.966-978
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• 2022

Jaundice in children have various etiologies. Among them, physiological jaundice is a very common disease observed in more than half of full-term neonates. When jaundice persists or develops after 2 weeks of age, the total/direct bilirubin is measured in consideration of the possibility of cholestasis. In case of cholestasis, imaging studies differentiate biliary atresia and other disorders of the extrahepatic bile ducts. In this review, we briefly presented the major differential diseases of cholestasis in children and introduced diagnostic imaging techniques, including normal findings.

• Clinical and Experimental Pediatrics
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• v.50 no.9
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• pp.855-861
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• 2007

Purpose : The most common causes of acute viral gastroenteritis in newborn period are rotavirus, astrovirus, norovirus and enteric adenovirus. This study was designed to investigate the clinical characteristics, clinical symptoms, isolation rate and distribution of these viruses in full-term neonates during neonatal period. We also studied the influence on the viral isolation rate by postnatal care place and feeding type. Methods : We evaluated 112 healthy full-term neonates who were admitted to Eulji hospital, presenting with symptoms of acute viral gastroenteritis from September 2004 to August 2005. Epidemiologic, clinical and laboratory data were reviewed. Enzyme-linked immunosorbent assay (ELISA) for rotavirus, astrovirus and norovirus and RT-PCR for enteric adenovirus were performed in study subjects.Results : The mean age at the admission was $11.4{\pm}5.4days$, mean weight loss was $5.9{\pm}5.1%$, mean hospitalization duration was $6.3{\pm}3.4days$. Moderate and severe weight loss were expressed in 51.7% and metabolic acidosis was in 13.4%. The percent of living in postnatal care facility (PCF) was 74.1 % and the percent of mixed feeding was 64.3%. Isolation rate of virus was 33%. The most prevalent virus was rotavirus (59.5%), followed by astrovirus (29.7%) and norovirus (10.8%). There was no differences in virus isolation rate by postnatal care place and by feeding type. The rotavirus was main virus in both home group and PCF group. But astrovirus was more detected in PCF and norovirus was more detected in home (P<0.05). According to monthly distribution of virus, acute viral gastroenteritis in newborn period was concentrated in September to December. Conclusion : The isolation rate of 4 type viruses was 33% and rotavirus was the leading cause of acute gastroenteritis during neonatal period. There was no differences in clinical characteristics on each viral groups.

• Childhood Kidney Diseases
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• v.4 no.1
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• pp.6-10
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• 2000

Purpose: To evaluate whether the urinary creatinine concentration is a reliable reference value to standardize urinary solute excretion in a spot urine sample during the first week of life. Methods: Spontaneously voided urine specimens were obtained in 49 healthy full term neonates, and in 33 healthy older children with the median ages of $5.7{\pm}4.3$ years, two urine samples were available with an interval of 2 to 3 days. Urine creatinine concentration was determined by the Jaffe test(CoBAS, Integra, Roche, Swiss). Uurine osmolality was determined by the freezing point depression test(Multi-osmette, Precision, USA). Results: Mean urinary creatinine and osmolality values of the first urine samples were not significantly different with the second urine samples in each group. Mean urinary creatinine and osmolality values in neonates were significantly different from the older children of the each urine sample(P<0.01). In neonates, the mean of the urinary oreatinine/osmolality ratios was higher than that of the older children(P<0.01). The urinary creatinine and the creatinine/osmolality values of the first urine samples were closely correlated with those of the second samples in both two groups(P<0.001). Conclusion: The urinary creatinine concentration during the first day of life is relatively stable, even when corrected for urinary osmolality The urinary creatinine and the urinary creatinine/osmolality ratio, therefore, can be used to standardize the urinary excretion of solutes in the neonate.

• Clinical and Experimental Reproductive Medicine
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• v.40 no.1
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• pp.42-46
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• 2013

Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.1
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• pp.77-82
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• 2001

Purpose: The fecal acid steatocrit is an improved steatocrit method for the evaluation of fecal fat. The present study was set up in order to define the normal range of acid steatocrit values during the first 3 months of life. Methods: Fecal acid steatocrit values were determined in 78 healthy full term and in 21 healthy prematurely born infants between May 1998 and April 2000. The acid steatocrit method was performed in these babies during the first 3 months of life. Results: Steatorrhea occurs during the first month and then decreases, as shown by the fall in the acid steatocrit curve from 1st to 3rd month in our subject. Very high acid steatocrit results (above 90%) were found in all full term and premature infants during the first month of age. Acid steatocrit results of human milk-fed infants were significantly lower than those of formula-fed infants (p=0.0018). Conclusion: We conclude that high acid steatocrit results during the first 1 month of age can be due to physiologic steatorrhea. The acid steatocrit micromethod can be used for the evaluation of milk fat absorption in infants and monitoring steatorrhea instead of other more cumbersome methods.