Postoperative Complications of Esophageal Atresia and Role of Endoscopic Balloon Dilatation in Anastomotic Strictures / 대한소아소화기영양학회지

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.

A neonate with Say–Barber–Biesecker–Young– Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

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.

Successful Management of Visceral Kaposiform Hemangioendothelioma with Kasabach‐Merritt Phenomenon Using Corticosteroids and Vincristine

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.

Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

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.

Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

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.

A neonate with hyperornithinemia-hyperammonemia-homocitrullinuria syndrome from a consanguineous Pakistani family

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.

Breast Milk-Transmitted Cytomegalovirus Infection in Preterm Infants

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.

Short-Term Complications of Percutaneous Endoscopic Gastrostomy according to the Type of Technique / 대한소아소화기영양학회지

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.

Clinical Characteristics of Children with Lobar Pneumonia Caused by Mycoplasma pneumoniae / 소아알레르기및호흡기학회지

PURPOSE: This study was conducted to evaluate the prevalence, clinical characteristics and laboratory findings of lobar pneumonia in children caused by Mycoplasma pneumonia and to find a diagnostic tool for identifying M. pneumoniae infection in children. METHODS: We analyzed medical records of 78 children between March 2010 and December 2011, who were admitted to our hospital and diagnosed with lobar pneumonia on the basis of chest X-rays. White blood cells (WBC), C-reactive protein (CRP), procalcitonin (PCT), specific antibodies to M. pneuomoniae, and cold agglutinin (CA) were measured at the time of admission. Children were divided into 2 groups: those with M. pneuomoniae infection (group A) and those without infection (group B). Group A children were also subdivided into 2 categories: those with increased CA (group 1) and those without (group 2). RESULTS: The prevalence of lobar pneumonia was higher in the year 2011 than in 2010. M. pneuomoniae infection usually occurs in summer and autumn. Group A children accounted for 75.6% (59/78) of all the cases. The onset ages was higher in group A than in group B (P=0.016). WBC counts and PCT values were higher in group B than in group A.(P=0.015 and P=0.011, respectively) Radiologic findings showed that the lower lobe was most commonly involved without predilection for either side and pleural effusion was present in 13.6% of all the cases. The duration of fever before admission was longer in group 1 than in group 2.(P=0.019) CONCLUSION: It is concluded that lobar pneumonia caused by M. pneuomoniae can be more accurately diagnosed using serum PCT values than using CRP values.