Infantile cortical hyperostosis, or Caffey disease, is a rare genetic disorder characterized by subperiosteal hyperostosis, primarily affecting the long bones, mandible, clavicle, and ribs. It presents with painful swelling in infancy and typically resolves spontaneously by two years of age. The disease follows an autosomal dominant inheritance pattern and is associated with the c.3040C>T (p.Arg1014Cys) mutation in the COL1A1 gene. We report Korean male twins diagnosed with Caffey disease, both developing painful swelling of the lower extremities before six months of age, with the second twin presenting symptoms two months after the first. Radiographic examinations revealed periosteal hyperostosis in the tibiae, femurs, and upper extremities, with progressive mandibular involvement. Laboratory findings showed elevated serum phosphorus, while other biochemical markers remained normal. Single gene sequencing confirmed the c.3040C>T (p.Arg1014Cys) mutation in the COL1A1 gene, inherited from their asymptomatic mother. Conservative pain management led to gradual symptom resolution, with radiographic improvements observed by 27 months of age. Caffey disease should be considered in infants presenting with acute painful limb swelling, and genetic testing, including parental screening, is crucial for diagnosis. This case provides valuable insights into the familial occurrence, genetic basis, and natural progression of Caffey disease, contributing to a deeper understanding of this rare condition.

Purpose: Esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) is a congenital anomaly that can cause frequent digestive and nutritional problems, even after repair. The most common complication is anastomotic stricture, for which reoperation or balloon dilatation is performed. This study aimed to evaluate the postoperative complications of EA and the role of endoscopic balloon dilatation (EBD) in cases of anastomotic stricture. Methods: We retrospectively analyzed patients diagnosed with EA with or without TEF between January 2000 and February 2021. Patients’ baseline characteristics, associated anomalies, and postoperative complications were reviewed. Results: Among 26 patients, 14 (53.8%) were male, 12 (46.2%) had coexisting anomalies, and the median follow-up was 6.1 years (range, 1.2–15.7 years). In univariate analysis, prematurity, low birth weight, and long-gap EA were associated with postoperative complications in 12 (46.2%) patients. Among the 10 (38.5%) patients with anastomotic stricture, nine (90.0%) required EBD. Regarding the first EBD, it was performed at a median of 3.3 months (range, 1.2–7.6 months) post-repair, while the average patient weight was 4.6 kg. The mean diameter ranged from 3.3 to 9.1 mm without major complications. In univariate analysis, long-gap EA alone was significantly associated with EBD. Conclusion Approximately half of the patients experienced complications after EA repair.In particular, patients with a long-gap EA had a significantly increased risk of complications, such as anastomotic strictures. EBD can be safely used, even in infants.

The Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

We performed a point seroprevalence survey of measles among healthcare workers (HCWs) at two Korean teaching hospitals in 2019. A total of 2,830 HCWs underwent an antibody test.The overall seropositivity of measles was 93.1%. The seroprevalence of measles was lowest in HCWs aged 20 - 24 years (81.2%), followed by those aged 25 - 29 years (90.1%). The rates of anti-measles IgG positivity were significantly different between the two hospitals (97.0% vs.89.4%, P <0.001). These results suggest that the seropositivity of measles in HCWs may differ depending on the hospital's vaccination policy.

Kaposiform hemangioendothelioma (KHE) is a rare, locally aggressive vascular neoplasm that often develops a coagulopathy known as Kasabach­Merritt phenomenon (KMP). Visceral involvement denotes a poor prognosis. We report a case of visceral KHE with KMP successfully treated with corticosteroids and vincristine. The infant had been born vaginally at 34 weeks 6 days’ gestation, weighing 2,360 g. He was admi tted for the management of respiratory failure. Blood tests showed anemia and thrombocytopenia 1 hour after delivery. Additional blood tests revealed a prothrombin time of 12.1 seconds, activated partial thromboplastin time of 60.6 seconds, fibrinogen levels of 72.4 mg/dL, and D­dimer levels >3,200 ng/mL. Despite supportive measures and daily transfusions, the clinical condition and coagulopathy gradually worsened. Renal ultrasonography performed to find the origin of the coagulopathy revealed an echogenic mass measuring >3 cm in the abdominal cavity. A magnetic resonance imaging scan showed an ill­marginated, infiltrative mass like lesion in the right anteromedial and posteromedial perirenal space that was hypointense with mild enhance ment on T1­ and T2­weighted images. Large vascular tumors adherent to other visceral organs were noted during exploratory laparotomy but could not be resected. Treatment with methylprednisolone was ineffective. Vincristine was administered weekly from the 17th hospital day, and the coagulation profile showed gradual impro vement after its initiation. Intravenous methylprednisolone was switched to oral prednisolone on the 57th hospital day. He was discharged on the 73rd hospital day and continued vincristine treatment every 2 weeks and oral prednisolone administration as an outpatient treatment for 8 weeks. He remained symptom­free at the 39­month follow­up.

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

PURPOSE: The purpose of this study is to describe the rate of cytomegalovirus (CMV) virolactia, and the prevalence of breast milk (BM)-transmitted postnatal CMV infection among premature infants after freeze-thawing (FT) and Holder pasteurization (HP) of breast milk. METHODS: This is a single-center, retrospective study of 312 infants born at less than 32 weeks of gestation, or with a birth weight less than 1,500 g from January 2013 to June 2017. All infants were screened for CMV-specific immunoglobulin (Ig) G and IgM at birth. Initial CMV specific polymerase chain reaction (PCR) and CMV culture were performed on mothers' BM and babies' urine within the first 21 days of life. FT and HP of BM was used to prevent the transmission of CMV. For the surveillance of postnatal CMV infection, CMV culture and CMV specific PCR of urine from babies were repeated one to two months after the initial screening. Screening for viremia and viruria was performed if postnatal CMV infection was suspected. RESULTS: Among 178 BM samples obtained from mothers of CMV-IgG-seropositive infants, 80 (44.9%) were CMV PCR positive. CMV deoxyribonucleic acid (DNA) was detected in five of the 22 BM samples (22.7%) obtained from the mothers of CMV-IgG seronegative infants. When CMV DNA load in BM was measured before and after HP, various results were shown. Sixty-three infants out of 232 (27.2%) were evaluated for postnatal CMV infection and four infants out of 63 (6.3%) were infected. CONCLUSION: Interventions to prevent BM-transmitted CMV infection can reduce the chance of postnatal CMV infection, but not completely eliminate it.
Birth Weight ; Breast* ; Cytomegalovirus Infections* ; Cytomegalovirus* ; DNA ; Humans ; Immunoglobulin M ; Immunoglobulins ; Infant ; Infant, Newborn ; Infant, Premature* ; Mass Screening ; Milk, Human ; Mothers ; Parturition ; Pasteurization ; Polymerase Chain Reaction ; Pregnancy ; Prevalence ; Retrospective Studies ; Viremia

PURPOSE: The method of percutaneous endoscopic gastrostomy (PEG) tube placement can be divided into the pull and introducer techniques. We compared short-term complications and prognosis between patients who underwent the pull technique and two other types of introducer techniques, the trocar introducer technique and T-fastener gastropexy technique. METHODS: Twenty-six patients who underwent PEG were enrolled in this study. We retrospectively investigated the age, sex, body weight, weight-for-age Z-score, underlying diseases, PEG indications, complications, duration of NPO (nil per os), pain control frequency, and duration of antibiotic therapy. The patients were classified into three groups according to the PEG technique. The occurrence of complications was monitored for 10 weeks after the procedure. RESULTS: The age, sex, body weight, and weight-for-age Z-score were not significantly between the three groups. Most patients had cerebral palsy and seizure disorders. Dysphagia was the most common indication for PEG. Major complications occurred in 5 (50%), 4 (66.7%), and 0 (0%) patients in group I, II, and III, respectively (p=0.005). Further, peristomal infection requiring systemic antibiotic therapy occurred in 2 (20%), 3 (50%), and 0 (0%) patients in group I, II, and III, respectively (p=0.04). There was no significant difference between the groups with respect to minor complications, duration of NPO, pain control frequency, and duration of antibiotic therapy. CONCLUSION: The results indicate that the T-fastener gastropexy technique was associated with the lowest rate of major complications.
Body Weight ; Cerebral Palsy ; Deglutition Disorders ; Epilepsy ; Gastropexy ; Gastrostomy* ; Humans ; Prognosis ; Retrospective Studies ; Surgical Instruments

OBJECTIVES: The aim of this study was to identify the health and environmental risk factors of air contaminants that influence environmental and respiratory diseases in Gyeongju, Pohang and Ulsan in South Korea, with a focus on volatile organic compounds (VOCs). METHODS: Samples were collected by instantaneous negative pressure by opening the injection valve in the canister at a fixed height of 1 to 1.5 m. The sample that was condensed in -150degrees C was heated to 180degrees C in sample pre-concentration trap using a 6-port switching valve and it was injected to a gas chromatography column. The injection quantity of samples was precisely controlled using an electronic flow controller equipped in the gas chromatography-mass spectrometer. RESULTS: The quantity of the VOC emissions in the industrial area was 1.5 to 2 times higher than that in the non-industrial area. With regards to the aromatic hydrocarbons, toluene was detected at the highest level of 22.01 ppb in Ulsan, and chloroform was the halogenated hydrocarbons with the highest level of 10.19 ppb in Pohang. The emission of toluene was shown to be very important, as it accounted for more than 30% of the total aromatic hydrocarbon concentration. CONCLUSIONS: It was considered that benzene in terms of the cancer-causing grade standard, toluene in terms of the emission quantity, and chloroform and styrene in terms of their grades and emission quantities should be selected for priority measurement substances.
Benzene ; Chloroform ; Chromatography, Gas ; Electronics ; Electrons ; Hot Temperature ; Hydrocarbons, Aromatic ; Hydrocarbons, Halogenated ; Republic of Korea ; Risk Factors ; Styrene ; Toluene ; Volatile Organic Compounds