The Outcome of Patients With Cystic Biliary Atresia With Intact Proximal Hepatic Ducts Following Hepatic-Cyst-Jejunostomy.

OBJECTIVES: To determine the outcomes of patients with cystic biliary atresia by correlating the anatomy of the hepatic ducts with the choice of biliary reconstruction surgery. BACKGROUND: The Kasai hepatoportoenterostomy (Kasai) is the initial surgical procedure offered to most patients with biliary atresia. In contrast, a hepatic-cyst-jejunostomy has been reported to be effective in patients with the cystic form of biliary atresia. METHODS AND RESULTS: We performed an international multicenter retrospective review. Two hundred eighty-seven patients were included, and 33 cases of cystic biliary atresia were identified. Outcomes were the serum total bilirubin level 3 months post-surgery and native liver survival at 2 years of age and were compared between cases who received the Kasai versus hepatic-cyst-jejunostomy in correlation to the anatomy of proximal hepatic ducts. The patients were categorized into 3 anatomical groups: patent intact hepatic ducts (n = 10), patent hypoplastic hepatic ducts (n = 13), and obliterated hepatic ducts (n = 10). All 10 patients with patent intact hepatic duct group underwent hepatic-cyst-jejunostomy, and 9 experienced bile drainage and native liver survival. Among the 13 patients with hypoplastic hepatic ducts, 11 underwent the Kasai procedure, and 9 had bile drainage, whereas 2 underwent hepatic-cyst-jejunostomy, and one survived with the native liver. All of the patients with obliterated hepatic ducts underwent the Kasai procedure; 5 established biliary drainage and survived with the native liver. Of 5 who did not drain, 3 underwent liver transplantation. CONCLUSIONS: In patients with cystic biliary atresia, the subset with a connection between cyst and intrahepatic bile ducts via intact proximal hepatic ducts had favorable clinical outcomes following hepatic-cyst-jejunostomy.

Fourteen-day sequential therapy is superior to 7-day triple therapy as first-line regimen for Helicobacter pylori infected children.

BACKGROUND/PURPOSE: Helicobacter pylori infection is one of the most common causes of peptic ulcer disease among children. This study is aimed to investigate the eradication rate of 14-day sequential therapy and the antibiotic resistance of H. pylori in children. METHODS: Eighty-seven treatment-naïve children (55 males; median age, 13.5 years) with H. pylori infection from January 2009 to August 2019 were recruited in this study. The status of H. pylori infection was confirmed by culture or histology with the aid of urea rapid test or C-13 urea breathe test. Patients treated with either triple therapy for 7 days or 14 days, or sequential therapy for 14 days was analyzed retrospectively. RESULTS: Thirty-eight (43.7%) patients received 14-day sequential therapy, 24 (27.6%) patients received 14-day triple therapy and the remaining 25 (28.7%) patients received 7-day triple therapy. The eradication rate of 14-day sequential therapy was significantly superior to 7-day triple therapy (97.4% vs. 80%, p = 0.032), and tended to be better than 14-day triple therapy (83%, p = 0.07). Of the 54 patients with available antibiotic resistance data, the resistant rate of clarithromycin, metronidazole, levofloxacin, and amoxicillin were 22.2%, 16.7%, 9.1% and 2.2%, respectively. Clarithromycin resistance demonstrated an inverse association with eradication success (Odds ratio = 0.017, p < 0.001). CONCLUSION: In treatment-naïve children with H. pylori infection, 14-day sequential therapy is superior to triple therapy, and achieve a high eradication rate (above 90%) in an area of high clarithromycin resistance.

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy.

Tubulin proteins play a role in the cortical development. Mutations in the tubulin genes affect patients with brain malformations. The present report describes two cases of developmental and epileptic encephalopathy (DEE) due to tubulinopathy. Case 1, a 23-year-old boy, was found to have a brain malformation with moderate ventriculomegaly prenatally. Hypotonia was noted at birth. Seizures were noted on the 1st day with multifocal discharges on the EEGs, which became intractable to many anticonvulsants. Brain MRI showed marked dilated ventricles and pachy/polymicrogyri. He became a victim of DEE. A de novo mutation in TUBB2B was proven through next-generation sequencing (NGS). Case 2, a mature male baby, began to have myoclonic jerks of his limbs 4 h after birth. EEG showed focal sharp waves from central and temporal regions. Brain MRI showed lissencephaly, type I. The seizures were refractory initially. A de novo mutation in TUBA1A was proven at the 6th week through NGS. He showed the picture of DEE at 1 year and 2 months of age. The clinical features of the tubulinopathies include motor delay, intellectual disabilities, epilepsy, and other deficits. Our cases demonstrated the severe form of tubulinopathy due to major tubulin gene mutations. NGS makes the early identification of genetic etiology possible for clinical evaluation.

SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.

SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports. Antiepileptic drugs, namely oxcarbazepine, phenytoin, valproate, levetiracetam, and clonazepam, as well as adrenocorticotropic hormone therapy failed to reduce the severity of the seizures. Seizure pattern changed to infantile spasm with extensor thrust since 5 months of age. A ketogenic diet consisting of a medium-chain triglyceride recipe was introduced at 8 months of age and the seizures were resolved in the following 10 months. A de novo mutation in SCN2A (c.573G > T; p.W191C) was proven through next-generation sequencing.