Portal cavernoma in type 1 neurofibromatosis: A fortuitous or causal association?

Neurofibromatosis type 1 (NF-1) is a multisystem genetic disorder affecting the NF1 tumor suppressor gene. Patients typically develop superficial (cutaneous) and internal (plexiform) neurofibromas. The latter may rarely involve the liver locating in the hilum and encasing the portal vessels, leading to portal hypertension. Vascular abnormalities (NF-I vasculopathy) are a well-recognized manifestation of NF-1. Although the pathogenesis is not well-known, NF-1 vasculopathy involves arteries of both peripheral and cerebral territories, with venous thrombosis being exceptionally reported. Portal venous thrombosis (PVT) is the leading cause of portal hypertension in childhood and has been associated with several risk factors. Nevertheless, predisposing conditions remain unknown in more than 50% of the cases. The treatment options are limited, and its management is nonconsensual in the pediatric age. We report the case of a 9-year-old boy with clinically and genetically confirmed NF-1, diagnosed with portal venous cavernoma after an episode of gastrointestinal bleeding. There were no identifiable risk factors for PVT and intrahepatic peri-hilar plexiform neurofibroma was excluded by MRI imaging. To the best of our knowledge, this is the first report of PVT in NF-1. We speculate that NF-1 vasculopathy may have been a pathogenic factor, or instead, it was a fortuitous association.

Incidental hypertransaminasemia in children-a stepwise approach in primary care.

Children with elevated liver enzymes are occasionally discovered through laboratory work-up from different clinical scenarios. Although the majority will have transient and/or benign conditions, a subgroup will have underlying liver disorders. The differential diagnosis is broad and therefore, a systematic approach is of utmost importance. In this article, we reviewed the most recent and relevant literature to provide a comprehensive overview of the main disease processes that cause hypertransaminasemia in children. Ultimately, we propose a practical stepwise approach to guide primary care physicians in the evaluation of abnormal liver enzymes in asymptomatic children. The first step is to obtain a complete history along with a thorough physical examination to exclude red flags, which should dictate urgent consultation with a paediatric gastroenterologist or hepatologist.  Conclusion: Hypertransaminasemia is a challenging scenario in the primary care setting. The aetiology can be broad, ranging from hepatic and extrahepatic to transient versus chronic liver disease. Timely referral to a specialised centre is of paramount importance for conducting targeted research and to not miss the chance of identifying a progressive, but still asymptomatic, treatable liver disease. What is Known: • Elevated liver enzyme is a challenging scenario in the primary care setting. • There are few studies guiding the evaluation of asymptomatic hypertransaminasemia in the paediatric population and a standardised approach is lacking. What is New: • We propose a practical stepwise approach to guide primary care physicians in the evaluation of abnormal liver enzymes.

Case report: NAFLD and maple syrup urine disease: Is there an interplay between branched-chain amino acids and fructose consumption?

Background: The worldwide increase in pediatric overweight and obesity, in parallel with the global increase in the consumption of sucrose and fructose, is associated with non-alcoholic fatty liver disease (NAFLD). Elevated branched-chain amino acids (BCAAs) are a metabolic feature related to obesity and an early risk factor for insulin resistance and NAFLD. However, few studies have assessed metabolic risk factors and nutritional status in maple syrup urine disease (MSUD) patients under restricted BCAA and high carbohydrate diets. Methods and results: Herein, we present a pilot report of a 17-year-old boy with classic MSUD with poor diet compliance and high fructose consumption, mainly during early adolescence. At that time, he was overweight and developed features of metabolic syndrome, including persistently elevated liver enzymes and hepatic steatosis. He underwent liver transplantation at the age of 13 years to prevent the risk of progressive cognitive impairment. Two months later, NAFLD relapsed in the graft, despite a better BCAA balance and weight loss. Nevertheless, 6 months after dietary restriction of fructose consumption, NAFLD had sustainably improved. Conclusion: Childhood overweight and fructose overconsumption are wellestablished driving forces in the development of pediatric NAFLD. However, their role in the early onset and progression of NAFLD in the allograft remains to be established. Furthermore, it is not known whether the dysmetabolic state associated with elevated BCAAs may be contributory. Further studies are required with a cohort of MSUD subjects to validate our findings and to ascertain the possible interaction between a BCAA imbalance and dietary intake in the development of NAFLD.

Incidental Liver Lesions in children: A practical and evidence-based approach.

Incidental liver lesions are increasingly being discovered in the context of the increased use of ultrasound studies and the majority are benign. In children, although individually rare, the differential diagnosis is broad and therefore a systematic approach is of utmost importance to reduce the radiological and disease burden in children and their families. This review article collected current evidence and provides fundamental information for the clinician regarding specific differential diagnoses and unique imaging features of benign liver lesions in children. Ultimately, we propose a practical stepwise approach mainly involving clinical and radiological workup. Laboratory tests and histopathological examination may be necessary in the presence of red flags or in indeterminate lesions.

Hiatal hernia and Cameron ulcer: an overlooked association in pediatric patients.

A ten-year-old boy presented with a two-year history of iron deficiency anemia (IDA) and occasional vomiting. His medical history included cerebral palsy and chronic pulmonary disease under mechanical cough assistance and nocturnal non-invasive ventilation.

Neonatal cholestasis: development of a diagnostic decision algorithm from multivariate predictive models.

Despite the recent advances involving molecular studies, the neonatal cholestasis (NC) diagnosis still relays on the expertise of medical teams. Our aim was to develop models of etiological diagnosis and unfavourable prognosis which may support a rationale diagnostic approach. We retrospectively analysed 154 patients born between January 1985 and October 2019. The cohort was divided into two main groups: (A) transient cholestasis and (B) other diagnosis (with subgroups) and also in two groups of outcomes: (I) unfavourable and (II) favourable. Multivariate logistic regression analysis identified the lower gestational age as the only variable independently associated with an increased risk of transient cholestasis and signs and/or symptoms of sepsis with infectious or metabolic diseases. Gamma-glutamyl transferase serum levels > 300 IU/L had a positive predictive value for both diagnosis of biliary atresia and for alpha-1-antitrypsin deficiency (A1ATD) and for unfavourable prognosis. A model of diagnosis for A1ATD (n = 34) showed an area under the ROC curve = 0.843 [confidence interval (CI): 0.773-0.912].Conclusion: This study identified some predictors of diagnosis and prognosis which helped to build a diagnostic decision algorithm. The unusually large subgroup of patients with A1ATD in this cohort emphasizes its predictive diagnostic model. What Is Known • The etiological diagnosis of neonatal cholestasis (NC) requires a step-by-step guided approach, and diagnostic models have been developed only for biliary atresia. • Current algorithms neither address the epidemiology changes nor the application of the new molecular diagnostic tools. What Is New • This study provides diagnostic predictive models for patients with A1ATD, metabolic/infectious diseases, and transient cholestasis, and two models of unfavourable prognosis for NC. • A diagnostic decision algorithm is proposed based on this study, authors expertise and the literature.

Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms.

Metabolic liver diseases (MLD) are an important group of disorders presenting with neonatal cholestasis (NC). The spectrum of liver involvement is wide and the presumptive diagnosis is traditionally based on clinical and laboratory findings. Recently, next-generation sequencing (NGS) panels have emerged as an appealing tool to diagnose neonatal/infantile cholestatic disorders. The aim of this study was to identify clinical phenotypes of liver injury and contribute to find a diagnostic methodology that integrates new molecular diagnostic tools. We retrospectively analyzed the clinical and biochemical features of 16 patients with MLD and NC. Patients were categorized into three groups: A-NC with liver failure (N = 8): tyrosinemia type I (n = 2), classic galactosemia (n = 5), mitochondrial DNA depletion syndrome (n = 1); B-NC evolving with chronic liver disease (N = 5): argininemia (n = 2); mitochondrial cytopathy (n = 1); congenital disorders of glycosylation type Ia (n = 1); Zellweger syndrome (n = 1); and C-transient NC (N = 3): Niemann-Pick type C (n = 2), citrullinemia type II (n = 1).Conclusion: MLD presenting with NC can be categorized into three main clinical phenotypes of liver injury. We highlight transient NC as a clue for MLD that must be pursued. New molecular diagnostic tools can play a key role, but application criteria must be established to make them cost-effective. What is Known: • Metabolic liver diseases are an important group of disorders presenting with neonatal cholestasis. • The diagnostic approach is challenging and traditionally based on clinical and laboratory findings. Next-generation sequencing is a recent and rapidly developing tool in pediatric hepatology. What is New: • We provide a liver-targeted characterization of metabolic liver diseases presenting with neonatal cholestasis, categorizing them into three clinical phenotypes that may narrow the diagnostic possibilities. • A clinical decision-making algorithm is proposed, in which the NGS technology is integrated.

Insights Into Pediatric Autoimmune Gastritis: Is There a Role for Helicobacter pylori Infection?

OBJECTIVES: Autoimmune gastritis (AIG) is a chronic inflammatory condition of the gastric mucosa, mainly described in adults presenting with pernicious anemia. It results from antibody-mediated destruction of parietal cells, but the precise initiating event is unknown. The pathogenicity of Helicobacter pylori (H pylori) has been suggested but not established. This study aimed to better characterize AIG in pediatric patients and to address the possible role of H pylori infection. METHODS: Descriptive single-center study, retrospectively describing 20 patients with a diagnosis of AIG based on positivity for anti-parietal cell autoantibodies, in addition to analytical and/or histological findings of oxyntic mucosa atrophy. RESULTS: In the majority (18/20), AIG diagnosis was suggested during investigation of refractory iron-deficient anemia. One patient had dyspepsia and none of the others had gastrointestinal symptoms. Fifty-five percent (11/20) were H pylori positive, but there were no significant differences regarding mean hemoglobin values at presentation (10.6 ±â€Š2.5 vs 9.5 ±â€Š1.0 g/dL, P > 0.05), analytical indicators of gastric atrophy (gastrin, 564.4 ±â€Š184 vs 721.2 ±â€Š220.6 pg/mL, P > 0.05), or in the presence or the grade of oxyntic mucosa atrophy. CONCLUSIONS: Our findings highlight that AIG may have an age-dependent presentation; thus, we can consider a pediatric phenotype that in contrast to adults, is manifested by refractory iron-deficient anemia and associated with parietal cell autoantibody positivity, but not intrinsic factor autoantibodies. A correlation between H pylori and AIG was not evident in the current study and it is still unclear whether H pylori is a trigger for AIG.

Pyogenic granuloma of the ampulla of Vater: unexpected cause of gastrointestinal bleeding.

We describe the case of a previously healthy 8-year-old girl presenting with a 1-year history of iron deficiency anemia. There was no report of hematemesis, abdominal pain or melena. Laboratory work-up excluded iron malabsorption as the underlying cause. Therefore, endoscopic evaluation was performed to exclude gastrointestinal blood loss, which revealed the presence of a 7 mm reddish lesion located within the ampulla of Vater. Capsule endoscopy excluded alternative diagnoses and concomitant lesions. Histopathological examination confirmed the diagnosis of pyogenic granuloma. The young age of the child and the benign nature of this lesion along with the absence of complications favored conservative management. Pyogenic granuloma is a benign vascular lesion that presents as a polypoid red mass. In the gastrointestinal tract, it is a rare condition and occurs more commonly in the elderly. The most common sites are the small intestine, esophagus, and colon, but they can occur throughout the entire gastrointestinal tract with a propensity to bleed that may cause iron deficiency anemia. In pediatric age patients, there are few reports of gastrointestinal pyogenic granulomas, most of which occur in the colon and rectum. Its identification and location in the ampulla of Vater is an exceptional finding.

Iatrogenic superior mesenteric artery syndrome

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Iatrogenic superior mesenteric artery syndrome.

We have carefully read the article "Superior mesenteric artery syndrome: an uncommon cause of intestinal obstruction" by José Barquín-Yagüez et al. and we would like to report one case with the same diagnosis but with another etiology.

Dysphagia lusoria: uncommon cause of dysphagia in children.

Dysphagia lusoria (lusus naturae, latin for "freak of nature") describes dysphagia because of vascular compression of the esophagus. Symptoms, when present, occur at the two extremes of life. Owing to the more flexible and compressible nature of the trachea, children usually present with respiratory symptoms, in contrast to adults, who more often present with dysphagia. Here, we report the case of a six-year-old child presenting with a history of progressive dysphagia without respiratory symptoms. A barium esophagogram showed a diagonal impression in the proximal esophagus, while at esophagogastroduodenoscopy there was an extrinsic pulsatile bulging area suggesting an extrinsic compression by an aberrant vessel. Angio-CT (computed tomography) scan confirmed the presence of an aberrant right subclavian artery.

Clinical practices among healthcare professionals concerning neonatal jaundice and pale stools.

Jaundice and pale stools are major indicators of neonatal liver disease. Prognosis depends on timely diagnosis and management. We evaluated the clinical practices among healthcare professionals concerning jaundiced newborns and their ability to recognize pale stools. We supplied a questionnaire and a panel with eight photographs of stools, both locally validated, to physicians and nurses of the National Healthcare Service. Analysis was conducted according to professional status, specialization and years of experience of professionals and level of healthcare. Questionnaires were administered to 266 participants (100 physicians, 166 nurses). The decision to send patients to medical observation depended on the intensity of jaundice for a significant percentage of nurses. Concerning jaundiced newborns breastfed and otherwise healthy, 28.9% of physicians would never request a conjugated bilirubin assay, and only 43.3% would request it after 14 days old; for those with other signs/symptoms of disease, only 69.1% of physicians would request it immediately. Multiple linear regression analysis identified specialization as an independent variable significantly associated with the ability to recognize pale stools. CONCLUSION: A significant percentage of healthcare professionals assumed clinical practices that preclude the timely recognition of cholestasis/pale stools, reinforcing the idea of educational needs. Specialization, rather than years of experience of professionals, was associated with better skills and practices. What is Known: • Neonatal cholestasis is a condition with some rare underlying entities having high mortality and morbidity. Early diagnosis is crucial to improve prognosis. Yet, many cases remain late recognized and referred. • Studies evaluating the ability of healthcare professionals to recognize neonatal cholestasis are scarce. What is New: • In this study, a significant percentage of professionals assumed clinical practices that preclude timely recognition of neonatal cholestasis and pale stools, reinforcing the idea of educational needs. • Specialization of professionals was associated with better skills and practices.