Diseases of bile duct in children.

Several diseases originate from bile duct pathology. Despite studies on these diseases, certain etiologies of some of them still cannot be concluded. The most common disease of the bile duct in newborns is biliary atresia, whose prognosis varies according to the age of surgical correction. Other diseases such as Alagille syndrome, inspissated bile duct syndrome, and choledochal cysts are also time-sensitive because they can cause severe liver damage due to obstruction. The majority of these diseases present with cholestatic jaundice in the newborn or infant period, which is quite difficult to differentiate regarding clinical acumen and initial investigations. Intraoperative cholangiography is potentially necessary to make an accurate diagnosis, and further treatment will be performed synchronously or planned as findings suggest. This article provides a concise review of bile duct diseases, with interesting cases.

Cranial ultrasound performance assessment tool: development and validation.

AIM: A standard assessment tool for direct evaluation of procedural skills to ensure proficiency of trainees is necessary for cranial ultrasound (US) in clinical practice. This study created and validated an assessment tool for cranial US performance by radiologists. MATERIAL AND METHODS: An initial evaluation tool for cranial US using criteria was developed based on existing literature. The assessment form was modified using a three-round Delphi process by an expert panel, conducted between January 2021 and April 2021. Rubric scales for grading were added once consensus regarding generated items was reached. Experts confirmed the final assessment tool using a rubric scale. Two raters evaluated cranial US performance of 27 residents in video clips using the tool. Reliability and percent agreement were assessed. RESULTS: Seventeen pediatric radiologists working in different settings participated in the expert panel. The content validation of the proposed evaluation tool was enabled by expert pediatric radiologists. Following three rounds of the Delphi process, the initial 14-item assessment form became a final 15-item form. A three-part rubric scale was used in the final form (preparation, US machine operation, and cranial US performance). Interrater reliability was evaluated with Cohen's Kappa. The Kappa value and percent interrater agreement for most items was moderate to almost perfect (0.42-0.93 and 77.8-100%, respectively). The Cronbach's alpha values for both raters were 0.856 and 0.891. CONCLUSIONS: This study produced the first validated cranial US assessment tool using a modified Delphi method. The final assessment form is a simple and reliable tool.

Cohort analysis of pediatric intussusception score to diagnose intussusception.

BACKGROUND: Intussusception is a primary cause of intestinal obstruction in young children. Delayed diagnosis is associated with increased morbidity. Ultrasonography (USG) is the gold standard for diagnosis, but it is operator dependent and often unavailable in limited resource areas. AIM: To study the clinical characteristics of intussusception including management and evaluation of the diagnostic accuracy of abdominal radiography (AR) and the promising parameters found in the pediatric intussusception score (PIS). METHODS: Children with suspected intussusception in our center from 2006 to 2018 were recruited. Clinical manifestations, investigations, and treatment outcomes were recorded. AR images were interpreted by a pediatric radiologist. Diagnosis of intussusception was composed of compatible USG and response with reduction. The diagnostic value of the proposed PIS was evaluated. RESULTS: Ninety-seven children were diagnosed with intussusception (2.06 ± 2.67 years, 62.9% male), of whom 74% were < 2 years old and 37.1% were referrals. The common manifestations of intussusception were irritability or abdominal pain (86.7%) and vomiting (59.2%). Children aged 6 mo to 2 years, pallor, palpable abdominal mass, and positive AR were the parameters that could discriminate intussusception from other mimics (P < 0.05). Referral case was the only significant parameter for failure to reduce intussusception (P < 0.05). AR to diagnose intussusception had a sensitivity of 59.2%. The proposed PIS, a combination of clinical irritability or abdominal pain, children aged 6 mo to 2 years, and compatible AR, had a sensitivity of 85.7%. CONCLUSION: AR alone provides poor screening for intussusception. The proposed PIS in combination with common manifestations and AR data was shown to increase the diagnostic sensitivity, leading to timely clinical management.

Pediatric liver transplantation outcomes from a single center in Thailand.

BACKGROUND: Liver transplantation (LT) has become an acceptable curative method for children with several liver diseases, especially irreversible acute liver failure and chronic liver diseases. King Chulalongkorn Memorial Hospital is one of Thailand's largest liver transplant centers and is responsible for many pediatric cases. AIM: To report the experience with pediatric LT and evaluate outcomes of living-related vs deceased-donor grafts. METHODS: This evaluation included children who underwent LT between August 2004 and November 2019. Data were retrospectively reviewed, including demographics, diagnoses, laboratory values of donors and recipients, the pediatric end-stage liver disease (PELD) or model for end-stage liver disease (MELD) score, graft source, wait time, perioperative course, postoperative complications, and survival rates. Continuous data were reported using the median and interquartile range. The Mann-Whitney U-test was used to compare the wait time between the living-related and deceased-donor groups. The chi-square or Fisher's exact test were used to compare the frequencies of between-group complications. Survival rates were calculated using the Kaplan-Meier method. RESULTS: Ninety-four operated pediatric liver transplant patients were identified (54% were females). The median age at transplantation was 1.2 (0.8-3.8) years. The median PELD and MELD scores were 20 (13-26.8) and 19.5 (15.8-26.3), respectively. Most grafts (81.9%) were obtained from living-related donors. The median wait time for the living donors was significantly shorter compared with the deceased donors at 1.6 (0.3-3.1) mo vs 11.2 (2.1-33.3) mo (P = 0.01). Most patients were diagnosed with biliary atresia (74.5%), and infection was the most common complication within 30 d post-transplantation (14.9%). Without a desensitization protocol, 9% of transplants were ABO-incompatible. Eight hepatitis B core antibodies (anti-HBc)-negative recipients received positive anti-HBc grafts without different observed complications. The overall survival rate was 93.6% and 90.3% at 1 and 5 years, respectively. No graft loss during follow-up was noted among survivors. CONCLUSION: A significant number of pediatric LT cases were reported in Thailand. Based on relatively comparable outcomes, ABO-incompatible and HBc antibody-positive grafts may be considered in an organ shortage situation.

Liver tumors in children with chronic liver diseases.

Liver tumors are rare in children, but the incidence may increase in some circumstances and particularly in chronic liver diseases. Most liver tumors consequent to chronic liver diseases are malignant hepatocellular carcinoma. Other liver tumors include hepatoblastoma, focal nodular hyperplasia, adenoma, pseudotumor, and nodular regenerative hyperplasia. Screening of suspected cases is beneficial. Imaging and surrogate markers of alpha-fetoprotein are used initially as noninvasive tools for surveillance. However, liver biopsy for histopathology evaluation might be necessary for patients with inconclusive findings. Once the malignant liver tumor is detected in children with cirrhosis, liver transplantation is currently considered the preferred option and achieves favorable outcomes. Based on the current evidence, this review focuses on liver tumors with underlying chronic liver disease, their epidemiology, pathogenesis, early recognition, and effective management.

Factors affecting high cumulative radiation exposure from paediatric computed tomography.

PURPOSE: To estimate occurrence rate of high cumulative radiation exposure from paediatric computed tomography (CT), and to determine influential factors on high-dose inclination. MATERIAL AND METHODS: Patients below 18 years old receiving at least 50 mSv of a cumulative dose during a 5-year period in a tertiary care centre were retrospectively enrolled. Individual patient characteristics, diagnoses, frequency of exa-minations, scanner sites, designated scans, and effective doses were recorded. Collective doses were compared among groups of the diagnoses and scanner sites, and regression analyses were applied. RESULTS: Of 2771 patients, 3.2% received individual cumulative doses between 50 and 303 mSv (median, 74 mSv). Frequency of examinations ranged from 1 to 13 times (median, 4 times) per patient. About 70% of the patients had oncological illness. Radiation was predominantly high in a CT simulator that could contribute the percentage of collective dose to twice that of examinations owing to higher scanning parts and CT dose index. Some scanner sites used higher acquisition phases. Regression analysis showed that the number of scanning parts and phases significantly influenced the cumulative dose inclination (p < 0.05) while frequent examinations did not. CONCLUSIONS: There was a low occurrence of paediatrics with high dose accumulation. Significant factors affecting potentially high exposure were customized CT protocols in the specific scanners.

The Prevalence of Nonalcoholic Fatty Liver Disease and Its Risk Factors in Children and Young Adults with Type 1 Diabetes Mellitus.

OBJECTIVES: To determine the prevalence of nonalcoholic fatty liver disease (NAFLD) and its associated risk factors in children and young adults with type 1 diabetes (T1D). STUDY DESIGN: A cross-sectional study was conducted at a tertiary care center in children and young adults with T1D. Liver fat quantification and hepatic fibrosis were assessed by magnetic resonance imaging proton density fat fraction and magnetic resonance elastography (MRE). Logistic regression analysis was performed to examine the associated risk factors for NAFLD. RESULTS: Fifty patients with T1D (28 females, 13 with overweight/obesity) were included. The median age and duration of T1D were 16.9 years (IQR, 13.6-20 years) and 6.5 years (IQR, 4-11 years), respectively. The prevalence of NAFLD was 10%. Four out of 5 patients with NAFLD were overweight/obese, and 2 had an and elevated alanine aminotransferase (ALT) level. None had liver fibrosis (defined as MRE >2.9 kPa). Compared with patients without NAFLD, patients with NAFLD had significantly higher body mass index standard deviation score (BMI-SDS) (median, 0.94 [IQR, 1.30-2.62] vs 0.13 [IQR, -0.69 to 0.84]; P = .01), ALT (median, 17 IU/L [IQR, 16-52 IU/L] vs 12 IU/L [IQR, 10-14 IU/L]; P = .02), and lower high-density lipoprotein cholesterol (median, 49 mg/dL [IQR, 41-51 mg/dL] vs 57 mg/dL [IQR, 52-69 mg/dL]; P = .039). Multivariate logistic regression analysis identified high BMI-SDS as the sole independent risk factor associated with NAFLD (OR, 5.79; 95% CI, 1.04-32.18). CONCLUSION: The prevalence of NAFLD in children and young adults with T1D was comparable to that in the general population. Our study suggests that routine screening for NAFLD in patients with T1D might not be necessary but should be performed in those patients with T1D who are overweight/obese.

Clinical significance of incidentally discovered renal cysts in pediatric patients.

PURPOSE: To determine the clinical significance of incidentally discovered renal cysts in pediatric patients and identify imaging predictors of autosomal dominant polycystic kidney disease (ADPKD). METHODS: A retrospective search of radiology reports from 2000 to 2016 was performed to identify patients < 18 years old with an imaging exam identifying at least one renal cyst and a ≥ 1-year follow-up renal imaging exam for cyst evaluation and/or diagnosis of ADPKD. Cysts with clear solid mass components were excluded. RESULTS: 84 pediatric patients with renal cysts were identified (mean age, 9.5 years), including 76 patients with incidentally discovered cysts and 8 patients with cysts identified from screening for ADPKD family history. Among the incidentally discovered cyst group, 7.9% were found to have ADPKD compared with 100% of patients with cysts and ADPKD family history. Maximum cyst diameter was significantly increased in patients with ADPKD compared to patients without ADPKD (22.0 mm vs 12.7 mm; P < 0.001, Fisher's Exact test). Multiple cysts or bilateral cysts were imaging features associated with a significantly higher (P < 0.01) incidence of ADPKD, both for the entire study population and the incidentally discovered cyst group. An increase in cyst size on the follow-up study was associated with higher incidence of ADPKD (P < 0.05). No malignancies were identified. CONCLUSIONS: Incidentally discovered renal cysts in pediatric patients are associated with a small but non-zero risk of ADPKD. Among cyst characteristics, bilaterality, multiplicity, large size, and increased size on follow-up imaging were associated with a statistically significant elevation of ADPKD risk, and should prompt diagnostic evaluation.

Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) (OMIM 614875) is a severe chondrodysplasia combined with a urinary excretion of D-2-hydroxyglutaric acid. Here, we reported the tenth case of this disease. A 15-year-old boy had symmetric radiolulencies in the metaphyses of the long bones suggesting enchondromatosis and platyspondyly. Remarkably, he manifested widespread cavernous hemangiomas including scalp, lips, tongue, larynx, and prepuce, with the onset of 3 years of age. Hemangiomas at the larynx had caused dyspnea and those in the oral cavity led to recurrent bleeding, requiring several surgical removals. These multiple and debilitating hemangiomas have never been previously reported in patients with MC-HGA. Mutation analyses including Sanger sequencing of genes involving in enchondromatosis and the metabolic pathway of D-2-hydroxyglutarate including PTHR1, D2HGDH, HOT, and IDH1, as well as whole-exome sequencing for proband-parent trio analysis and paired blood versus hemangioma studies showed no pathogenic variants. In summary, we reported the tenth patient with MC-HGA who manifested widespread and debilitating hemangiomas in several organs, expanding the clinical spectrum of MC-HGA.