Eung Sang Choi

A Tailgut Cyst—Cystic Mass Diagnosed by Prenatal Ultrasonography

Tailgut cysts are congenital lesions found in the presacral space. These have been mainly identified in adults and are rare in children, especially neonates. Here, we present the case of a neonate with a presacral cystic mass detected by prenatal ultrasonography that was diagnosed as a tailgut cyst after postnatal surgical removal. When a presacral cyst is encountered, tailgut cyst should be considered in the differential diagnosis.

Assessment of the association between Apgar scores and seizures in infants less than 1 year old

PURPOSE The study aimed to assess the association between Apgar scores at 1 and 5 min after birth and seizures in infants less than 1 year old. METHODS We conducted a retrospective, observational, hospital-based study by utilising medical records from the Chung-Ang University Hospital admissions from January 2006 to May 2015 in order to identify infants less than 1 year old who had a history of seizures. Using electronic medical records, infants who were diagnosed with infantile seizures at the Chung-Ang University Hospital from January 2006 to May 2015 were included in the seizure group (n=93), and a control group consisting of 296 age-matched cases without a history of seizures was selected from a group of infants born at Chung-Ang University Hospital during the same study period. RESULTS We found that Apgar scores were significant risk factors for infantile seizures. Apgar scores differed depending on gestational age and birth weight. We found strong associations between Apgar scores and infantile seizures in the full-term and the normal-birth weight groups (bodyweight ≥2.5 kg), regardless of delivery mode. The Apgar scores were inversely correlated with the EEG class, and only the 1-min Apgar scores were correlated with MRI findings. CONCLUSION Low Apgar scores are significant perinatal risk factors for infantile seizures, especially in full-term and normal-birth weight infants, and have a strong negative linear relationship with EEG and brain MRI results in the seizure group.

Clinical and genetic features of human metapneumovirus infection in children

Human metapneumovirus (hMPV) is one of the main pathogens responsible for respiratory tract infection in children.

The first case of X-linked Alpha-thalassemia/mental retardation (ATR-X) syndrome in Korea.

Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers.

Congenital Chloride Diarrhea in Dizygotic Twins

Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.