Congenital Gastric Teratoma Presenting with Gastrointestinal Bleeding: Case Report and Review of Literature.

BACKGROUND: Gastric teratoma is an extremely rare tumor, representing <1% of all pediatric teratomas, and commonly manifests as a palpable abdominal mass. Upper gastrointestinal tract bleeding in newborns and infants is rare and is mostly caused by a benign lesion. CASE REPORT: We present a 3-month-old boy who presented with recurrent attacks of hematemesis, vomiting, and melena which on work up revealed a gastric teratoma. DISCUSSION/CONCLUSION: Owing to the unique characteristics and the extreme rarity of this entity, accurate preoperative diagnosis has remained elusive.

Pathologic approach to Neonatal cholestasis with a simple scoring system for biliary atresia.

A liver biopsy is essential for the diagnostic workup of persistent neonatal cholestasis (NC). The differential diagnosis of NC is broad, including obstructive and non-obstructive causes. In addition, histologic features of certain disorders may be non-specific in the early course of the disease. To evaluate liver biopsies using a practical histopathologic approach for NC and to define a simple scoring system for biliary atresia (BA) for routine clinical practice. From June 2006 to December 2021, liver biopsy specimens from infants with persistent NC were examined by two independent pathologists. The cases diagnosed as BA were correlated with clinical, radiologic, and laboratory data to calculate the final score. Four hundred and fifty-nine cases were enrolled in the study. They had a mean age of 63.94 ± 20.62 days and were followed for a median time of 58 (1-191) months. They included 162 (35.3%) cases of BA. On multivariate analysis, portal edema, ductular proliferation, cholangiolitis, and bile duct/ductular plugs were the histopathologic predictors of BA. A liver biopsy did perform well with a 95.1% sensitivity, 91.6% specificity, 86% PPV, and 97.1% NPV. At a cutoff of 5 of the scoring system, diagnosis of BA could be done with a sensitivity of 95.1% and a specificity of 100%. We have shown detailed histopathologic features of BA with more depth to infants aged ≤ 6 weeks. We have developed a simple scoring system using a combination of liver biopsy with non-invasive methods to increase the diagnostic accuracy of BA.

Diffusion tensor magnetic resonance imaging in the grading of liver fibrosis associated with congenital ductal plate malformations.

Purpose: Liver biopsy is still the standard method for the diagnosis of ductal plate malformations (DPM). However, it is an invasive tool. Magnetic resonance imaging (MRI) has shown its accuracy in the diagnosis of this pathology. Herein, a study was conducted to elucidate the role of diffusion MRI parameters in predicting the degree of hepatic fibrosis. Material and methods: This prospective study included 29 patients with DPM and 20 healthy controls. Both groups underwent diffusion tensor magnetic resonance imaging (DT-MRI), and its parameters were compared between patients and controls, and then they were correlated with the degree of liver fibrosis in the patient group. Results: All patients with DPM, whatever its type, expressed a significantly lower hepatic apparent diffusion coefficient (ADC) compared to controls. However, fractional anisotropy (FA) showed no significant difference between them. The ADC value of 1.65 × 10-3 mm2/s had sensitivity and specificity of 82.1% and 90%, respectively, in differentiating DPM patients from healthy controls. It was evident that patients with higher fibrosis grades had significantly lower hepatic ADC, indicating a negative correlation between ADC and the grade of hepatic fibrosis; rs = -0.901, p < 0.001. Conclusions: DT-MRI showed good efficacy in the diagnosis of congenital DPM. Moreover, ADC could be applied to monitor the degree of liver fibrosis rather than the invasive liver biopsy. No significant correlation was noted between the FA and the grades of liver fibrosis.

Diffusion tensor imaging of vertebral bone marrow in children with Gaucher's disease type I and III: Pre- and post-therapy.

PURPOSE: To assess diffusion tensor imaging (DTI) of the vertebral bone marrow (BM) in children with Gaucher's disease (GD) types I and III before and after therapy. METHODS: Prospective study was conducted upon 25 children with GD type I (n = 17) and III (n = 8) and 13 age and sex-matched controls underwent DTI of vertebral BM. Mean diffusivity (MD) and fractional anisotropy (FA) of vertebral BM was calculated and correlated with genotyping, chitotriosidase, hemoglobin (HB) and, platelet count. RESULTS: There was a statistically significant difference in MD and FA of BM between patients and controls (P = 0.001 and 0.02). The area under the curve (AUC) of MD and FA used to differentiate untreated patients from controls was 0.902 and 0.68 with sensitivity, specificity, and, accuracy 92%, 84.6%, and, 89.5% respectively. There was a significant difference in MD and FA of BM between untreated and treated patients (P = 0.001 and 0.02). AUC of MD and FA used to differentiate untreated from treated patients was 0.93 and 0.649 with sensitivity, specificity, and accuracy of 92%, 80%, and 86% respectively. There was a significant difference in MD and FA (P = 0.03, 0.001 respectively) of BM in GD with homozygous L444P mutation (n = 9) and other mutations (n = 14). Chiotriptase, HB and platelet count of patients was correlated with MD (r = -0.36, 0.42, -0.41) and FA (r = -0.47, -0.37, -0.46) respectively. CONCLUSION: DTI of vertebral BM can help in diagnosis and monitoring patients with GD after therapy and correlated with genotyping, and hematological biomarkers of GD.

Cognitive impairment in children with chronic Hepatitis C Virus: Case control study.

Hepatitis C virus (HCV) infection is the most common cause of chronic liver disease of infectious etiology in children. This study aims to compare cognitive impairment, and psychological status of treatment-naïve HCV children with control group. Treatment-naïve children with HCV and an equal control group of children of matched age and gender were recruited. Assessment included measures of children's cognitive functioning, behavior, depression and anxiety as well as laboratory investigations and liver biopsy. Overall 102 children of both genders were recruited; the majority was from rural areas and from middle social class. Their age ranged from 7 to 17 years old. Only 6.9% reported positive family history of Psychiatric disorders while 35.3% reported current Psychiatric disorder. The most frequent diagnosis in the sample was depression (16.7%). Depression scores correlated negatively with liver biopsy activity (p = 0.024) and positively with WBCS (p = 0.0024). Anxiety scores correlated positively with WBCS (p = 0.017). Verbal IQ, performance IQ and total IQ correlated with the social class and with the liver biopsy activity. Also it was found that higher depression scores can predict lower verbal IQ. Depression, social class and liver Inflammation are predictors of cognitive impairment in children with HCV.

Histopathologic ─ Endoscopic Concordance of Pediatric Duodenal Biopsy; How to Be Improved?

OBJECTIVE: Few studies have correlated pediatric endoscopic and histologic impressions of duodenal biopsies. Method: This is a retrospective study on children undergoing upper gastrointestinal endoscopy over a period of 11 years. We investigated concordance between the gross endoscopic and histopathologic characteristics of pediatric duodenal biopsies. Results: Of 1793 children enrolled in the study, duodenal pathology was observed in 72.3%. The gross endoscopic findings showed a low sensitivity of 38.9%, specificity of 99.2%, PPV of 99.2%, and NPV of 38.3%. Concordance between the gross endoscopic and histopathologic analysis was 55.6%. Conclusion: This study showed a higher rate of pediatric duodenal pathologies than gross assessment. This emphasizes the value for acquiring routine duodenal biopsies from grossly normal mucosa.

Implementation of a protocol-based strategy for weaning nasal high flow therapy in preterm infants.

OBJECTIVE: We compared protocolized weaning versus nonprotocolized weaning practice from nasal high flow therapy (nHFT) in preterm infants. STUDY DESIGN: A before-and- after observational study. METHODS: The study was conducted in three phases; Phase 1: infants were weaned according to usual practice for 6 months (nonprotocolized), Phase 2: education and training physicians and nursing staff for the protocol for 1 month, and Phase 3: protocol of weaning from nHFT was applied for the following 6 months with specified criteria for readiness to wean, weaning failure and weaning technique. The primary outcome was failure to wean off nHFT. RESULTS: One hundred and four preterm infants were enrolled, 51 preterm infants in the protocol group and 53 in the nonprotocol group. The groups were similar in demographic and clinical characteristics at baseline. There were significantly lower number of patients who failed weaning from nHFT in the protocol group compared to nonprotocol group (4 [7.8%] versus 15 [28.3%], p = .007]. There was shorter time to reach full enteral feeding in the protocol group compared with nonprotocol group (p = .03). There were no significant differences between groups regarding other outcomes including total durations of respiratory support, nHFT and oxygen therapy, duration of nHFT after decision of weaning, and neonatal mortality and morbidity. CONCLUSION: Implementation of a standardized protocol for weaning from nHFT in preterm infants reduced weaning failure and reduced the time to full feeds. Larger trials are recommended to detect the impact of weaning protocols on other outcomes.

Assessment of Diffusion Tensor Imaging Parameters of Hepatic Parenchyma for Differentiation of Biliary Atresia from Alagille Syndrome.

OBJECTIVE: To assess diffusion tensor imaging (DTI) parameters of the hepatic parenchyma for the differentiation of biliary atresia (BA) from Alagille syndrome (ALGS). MATERIALS AND METHODS: This study included 32 infants with BA and 12 infants with ALGS groups who had undergone DTI. Fractional anisotropy (FA) and mean diffusivity (MD) of the liver were calculated twice by two separate readers and hepatic tissue was biopsied. Statistical analyses were performed to determine the mean values of the two groups. The optimum cut-off values for DTI differentiation of BA and ALGS were calculated by receiver operating characteristic (ROC) analysis. RESULTS: The mean hepatic MD of BA (1.56 ± 0.20 and 1.63 ± 0.2 × 10-3 mm²/s) was significantly lower than that of ALGS (1.84 ± 0.04 and 1.79 ± 0.03 × 10-3 mm²/s) for both readers (r = 0.8, p = 0.001). Hepatic MD values of 1.77 and 1.79 × 10-3 mm²/s as a threshold for differentiating BA from ALGS showed accuracies of 82 and 79% and area under the curves (AUCs) of 0.90 and 0.91 for both readers, respectively. The mean hepatic FA of BA (0.34 ± 0.04 and 0.36 ± 0.04) was significantly higher (p = 0.01, 0.02) than that of ALGS (0.30 ± 0.06 and 0.31 ± 0.05) for both readers (r = 0.80, p = 0.001). FA values of 0.30 and 0.28 as a threshold for differentiating BA from ALGS showed accuracies of 75% and 82% and AUCs of 0.69 and 0.68 for both readers, respectively. CONCLUSION: Hepatic DTI parameters are promising quantitative imaging parameters for the detection of hepatic parenchymal changes in BA and ALGS and may be an additional noninvasive imaging tool for the differentiation of BA from ALGS.

Assessment of Liver and Spleen in Children With Gaucher Disease Type 1 With Chemical Shift Imaging.

PURPOSE: The aim of this study was to assess of liver and spleen in children with Gaucher disease type 1 with chemical shift imaging. METHODS: Retrospective analysis was conducted on 36 untreated children with Gaucher disease type 1 and 15 age- and sex-matched control children who underwent chemical shift imaging of the abdomen. The hepatic and splenic fat fraction was calculated. The Pediatric Gaucher Severity Scoring System, hematologic parameters, and enzyme assay of the disease were calculated and correlated with hepatic and splenic fat fraction. RESULTS: The mean hepatic fat fraction in Gaucher disease was 14.1 ± 3.1 (95% confidence interval [CI], 12.9-15.2) was significantly higher (P = 0.001) than that of control subjects 5.2 ± 0.9 (95% CI, 4.7-5.7). The mean splenic fat fraction in Gaucher disease was 11.2 ± 2.9 (95% CI, 11.2 ± 2.9), and that of control was 4.5 ± 0.9 (95% CI, 4.02-5.2). The thresholds of hepatic and splenic fat fraction used to differentiate patients from control subjects were 0.47 and 0.39 with areas under the curve of 0.947 and 0.999, respectively. The hepatic and splenic fat fraction is correlated with the Pediatric Gaucher Severity Scoring System (r = -0.523, -0.602), hemoglobin concentration (r = -0.491, -0.505), platelet count (r = -0.593, -0.24), ß-glucosidase (r = 0.519, 0.549), and chitotriosidase (r = -0.03, 0.267), respectively. CONCLUSIONS: Hepatic and splenic fat fraction is a promising quantitative imaging parameter for detection and quantification of hepatic and splenic infiltration in children with Gaucher disease and correlated with clinical scoring, hematologic parameters, and enzyme assay of the disease.

Multi-parametric MR imaging using apparent diffusion coefficient and fat fraction in quantification of bone marrow in pediatrics with Gaucher disease.

PURPOSE: To assess multi-parametric MR imaging with apparent diffusion coefficient (ADC) and fat fraction (FF) in detection and quantification of bone marrow involvement in pediatric patients with Gaucher disease. MATERIAL AND METHODS: This study was conducted upon 29 pediatric patients with Gaucher disease and 13 age and sex matched controls that underwent diffusion-weighted MR imaging and dual-echo gradient recalled echo imaging. The ADC and FF of the bone marrow were calculated. RESULTS: There was significant difference in ADC (P = 0.001) and FF (P = 0.001) of bone marrow between patients and controls. The cutoff ADC and FF differentiate patients from controls were 0.47 × 10-3 mm2/s and 0.36 with area under the curve of 0.947 and 0.885 and accuracy of 86.5% and 83.8% respectively. There was significant difference in ADC (P = 0.001) and FF (P = 0.001) between untreated (n = 17) and treated (n = 12) patients. The cutoff ADC and FF differentiate untreated from treated patients were 0.39 × 10-3 mm2/s and 0.27 with area under curve of 0.886 and 0.851 and accuracy of 88% and 84% respectively. CONCLUSION: Multi-parametric MR imaging using ADC and FF are quantitative imaging parameters that can be used for detection and quantification of vertebral bone marrow involvement in pediatric patients with Gaucher disease.

Assessment of the liver and spleen in children with Gaucher disease type I with diffusion-weighted MR imaging.

PURPOSE: To assess hepatic and splenic apparent diffusion coefficient (ADC) in children with Gaucher disease type I with diffusion-weighted MR imaging and to correlate hepatic and splenic ADC with parameters of disease severity. SUBJECTS AND METHODS: Prospective study was conducted upon 25 children (11 treated and 14 untreated) with Gaucher disease and 12 age and sex matched control children. They underwent diffusion-weighted MR imaging of abdomen. Hepatic and splenic ADC and volume were calculated. RESULTS: There was statistically difference in hepatic and splenic apparent diffusion coefficient (P=0.001) between patients and controls. The cutoff ADC of liver and spleen used to differentiate patients from controls were 0.47 and 0.39×10-3mm2 with area and curve of 0.947 and 0.886 respectively. There was significant difference in hepatic and splenic ADC between untreated and treated patients (P=0.003 and 0.001). Hepatic ADC correlated with splenic volume (r=-0.721), hepatic volume (r=-0.555) and chitotriosidase (r=-0.413). Splenic ADC correlated with splenic volume (r=-0.652), hepatic volume (r=-0.544) and chitotriosidase (r=-0.355). CONCLUSION: Hepatic and splenic ADC can detect hepatic and splenic infiltration in Gaucher disease and correlated with some parameters of disease severity.

A multicenter, open-label, phase III study of Abcertin in Gaucher disease.

BACKGROUND: Gaucher disease (GD) is caused by a deficiency in the lysosomal enzyme glucocerebrosidase. Enzyme replacement therapy (ERT) is recommended for clinical improvement. METHODS: The efficacy and safety of a new imiglucerase, Abcertin, were assessed in 7 Egyptian patients with treatment-naïve type 1 GD. Each patient was administered a biweekly 60 U/kg dose of Abcertin for 6 months. The primary endpoint was the change in hemoglobin concentration. The secondary endpoints were changes from baseline in platelet counts, spleen and liver volumes, biomarker levels, skeletal parameters, and bone mineral density. RESULTS: The hemoglobin concentration increased by a mean of 1.96 ±â€Š0.91 g/dL (range 1.11-2.80 g/dL) or 20.6% (P = .001). Statistically significant increases in the platelet count and decreases in the spleen volume and biomarker levels were also observed. There were no severe drug-related adverse events. One patient developed anti-imiglucerase antibodies without neutralizing activity. CONCLUSION: Our study results demonstrate the efficacy and safety of Abcertin in patients with type 1 GD. This suggests that Abcertin can be an alternative ERT option for type 1 GD.

Pegylated interferon α/ribavirin therapy enhances bone mineral density in children with chronic genotype 4 HCV infection.

BACKGROUND: The impact of chronic hepatitis C (CHC) on bone mineral density (BMD) has been well studied in adults with a relative paucity of data in children, especially concerning effect of treatment with pegylated interferon (PEG-IFN) plus ribavirin (RV). In the current work, we assessed prospectively changes in BMD in children with CHC before, during, and after treatment. METHODS: Forty-six consecutive children with noncirrhotic genotype 4 CHC were subjected to dual-energy X-ray absorptiometry at baseline, 24 weeks, 48 weeks of therapy and 24 weeks after treatment. BMD, bone mineral content (BMC), and Z score of lumbar spine (L2-L4) were reported. Tanner pubertal stage, viral load, liver function tests, serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, and liver histopathology were assessed in all included children. RESULTS: Thirty (65.2%) patients had normal BMD, 10 (21.7%) were at risk for low BMD, and 6 (13.1%) had low BMD for chronological age. Patients with low BMD were significantly older (P=0.001), with higher frequency of delayed puberty than other groups (P=0.002). Baseline densitometric parameters (BMD & BMC) were significantly positively correlated with patients' age, weight, height, body mass index and hemoglobin level; while they were insignificantly correlated with basal viral load, histopathology activity index and fibrosis score. Densitometric parameters improved significantly on PEG-IFN plus RV treatment, this improvement was found to be sustainable 24 weeks after therapy. CONCLUSIONS: Low BMD is detectable in a proportion of CHC children. Antiviral therapy leads to a sustainable increase in BMD.

Myocardial performance in children with autoimmune hepatitis: Doppler tissue imaging study.

Autoimmune hepatitis (AIH) is a member of autoimmune diseases family which can increase risk of cardiovascular morbidity and mortality. This study aimed to assess subclinical impact of AIH on global myocardial performance in affected children using Doppler tissue imaging (DTI) and to correlate it with total serum immunoglobulin-G (IgG). Thirty children with AIH (mean age = 12.67 ± 2.9 years) was included as the study group and 20 age- and sex-matched healthy children (mean age = 11.93 ± 2.66 years) as the control group. Conventional two-dimensional echocardiography was performed to both groups and DTI were used to determine right ventricular (RV) and left ventricular (LV) Tei indexes. Total serum IgG levels at initial diagnosis of AIH were correlated to the cardiac functions of AIH patients. RV and LV Tei indexes were significantly higher in AIH group (mean ± SD: 0.46 ± 0.088 vs. 0.26 ± 0.01, P < 0.0001 and 0.45 ± 0.086 vs. 0.31 ± 0.02, P < 0.0001, respectively). Also, total IgG concentrations were correlated positively with the LV Tei index (r = 0.69, P < 0.0001) and with the RV Tei index (r = 0.61, P < 0.0003) and correlated negatively with the mitral systolic (Sm) velocity (r = -0.76, P < 0.0001) and with tricuspid systolic (Sm) velocity (r = -0.66, P < 0.0001). On the other hand, fractional shortening did not correlate with serum IgG concentrations (r = -0.04, P = 0.821). In conclusion, the DTI technique appears to be more sensitive than conventional echocardiography in the early detection of myocardial dysfunction in AIH children.

Anorectal functional abnormalities in Egyptian children with chronic functional constipation.

BACKGROUND AND STUDY AIMS: Chronic functional constipation represents 95% of the cases of paediatric constipation. Epidemiologic data, pathophysiology and anorectal functional abnormalities vary greatly among different reports across different populations. The aim of this study was to evaluate these data in Egyptian children with chronic functional constipation. PATIENTS AND METHODS: This study included 150 children with chronic functional constipation (101 males, 49 females; mean age 6 ± 3.1 years); a control group of 50 age- and sex-matched healthy children were enrolled for standardisation of the manometry technique. A structured symptom questionnaire and clinical examination including digital rectal examination in addition to anorectal manometry were done for all included children. Defaecation dynamics were assessed in all children 5 years or older using anorectal manometry with integrated electromyogram of the external anal sphincter and the puborectalis muscle. RESULTS: The maximal tolerable volume was significantly higher in the constipated children than in the control group (p=0.03). No significant differences existed between constipated and control children regarding other anorectal manometric parameters. Abnormal defaecation dynamics were detected in 35 out of 95 tested patients (36.8%). CONCLUSION: Increased maximal tolerable volume is the most striking manometric feature in Egyptian children with chronic functional constipation. Abnormal defaecation dynamics were detected in about one-third of the tested patients. Standardisation of the measurement techniques and obtaining normal ranges for anorectal manometric parameters for each laboratory are recommended.

Acute flaccid paralysis in a patient with sacral dimple.

Sacral dimples are the most common cutaneous anomaly detected during neonatal spinal examination. Congenital dermal sinus tract, a rare type of spinal dysraphism, occurs along the midline neuraxis from occiput down to the sacral region. It is often diagnosed in the presence of a sacral dimple together with skin signs, local infection, meningitis, abscess, or abnormal neurological examination. We report a case of acute flaccid paralysis with sensory level in a 4 mo old female infant with sacral dimple, diagnosed by magnetic resonance imaging to be a paraspinal subdural abscess. Surgical exploration revealed a congenital dermal sinus tract extending from the subdural abscess down to the sacral dimple and open to the exterior with a minute opening.