Hereditary pancreatitis: An updated review in pediatrics.

Hereditary Pancreatitis (HP) has emerged as a significant cause of acute, acute recurrent and chronic pancreatitis in the pediatric population. Given that it presents similarly to other causes of pancreatitis, a positive family history and/or isolation of a gene mutation are vital in its designation. Inheritance patterns remain complex, but mutations involving the PRSS1, SPINK1, CFTR and CTRC genes are commonly implicated. Since being first described in 1952, dozens of genetic alterations that modify the action of pancreatic enzymes have been identified. Among children, these variants have been isolated in more than 50% of patients with chronic pancreatitis. Recent research has noted that such mutations in PRSS1, SPINK1 and CFTR genes are also associated with a faster progression from acute pancreatitis to chronic pancreatitis. Patients with HP are at increased risk of developing diabetes mellitus, exocrine pancreatic insufficiency, and pancreatic adenocarcinoma. Management follows a multi-disciplinary approach with avoidance of triggers, surveillance of associated conditions, treatment of pancreatic insufficiency and use of endoscopic and surgical interventions for complications. With significant sequela, morbidity and a progressive nature, a thorough understanding of the etiology, pathophysiologic mechanisms, diagnostic evaluation, current management strategies and future research considerations for this evolving disease entity in pediatrics is warranted.

Meandering Main Pancreatic Duct in Association with Choledochal Cysts and Acute Pancreatitis in Pediatrics.

Meandering main pancreatic duct (MMPD) is an uncommon anomaly of the main pancreatic duct characterized by an abnormal curvature at the pancreatic head region. This variant can be diagnosed on imaging, particularly magnetic resonance cholangiopancreatography (MRCP). Although its clinical significance remains debatable, recent research suggests an association with recurrent acute pancreatitis. To our knowledge, no pediatric cases of acute or recurrent acute pancreatitis have been attributed to the presence of MMPD. In this article, we report on two patients. The first case is of a 15-year-old girl with MMPD discovered on investigation of idiopathic acute pancreatitis. The second case is of a 5-year-old boy who presented with his second episode of acute pancreatitis. In this patient, MRCP imaging revealed MMPD and type IVA choledochal cyst. With appropriate care, both patients experienced clinical improvement with resolution of abdominal pain. This article highlights MMPD as a distinct entity that should be considered in pediatric patients with recurrent attacks of acute pancreatitis. This report also describes the first association of MMPD with choledochal cysts. [Pediatr Ann. 2019;48(10):e412-e416.].

Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome.

Refeeding syndrome is diagnosed based on the onset of multiple laboratory abnormalities (most commonly hypophosphatemia) and clinical signs in the setting of nutrition rehabilitation of malnourished patients. Because definitions are not uniform, a broad differential diagnosis should always include renal tubular dysfunction. Our report details a 3 year-old child with undiagnosed renal tubular dysfunction who presented with the clinical picture of refeeding syndrome with refractory electrolyte abnormalities. A diagnosis of renal Fanconi syndrome was made after urinalysis that revealed glucosuria and urine electrolyte losses. Thus, urinalysis can aid in making a positive diagnosis of refeeding syndrome.

Scarlet fever associated with hepatitis in pediatrics. A case report. / Scarlet fever associated with hepatitis in pediatrics. A case report.

INTRODUCTION: Scarlet fever is a common illness in pediatrics caused by group A beta-hemolytic strep tococcus (GABHS), which usually occurs after an episode of pharyngitis, and has an overall excellent prognosis. Hepatitis secondary to scarlet fever is a rare complication described in adults and even less frequently in children. Our objective was to describe a case of hepatitis secondary to scarlet fever in a pediatric patient. CLINICAL CASE: A 12-year-old male with scarlet fever presented with a 4-day history of jaundice, dark urine, and decreased appetite. Laboratory tests revealed elevated liver enzy mes and total and direct bilirubin levels, and negative studies for hepatitis A, B and C, Epstein Barr virus, parvovirus B19, adenovirus, cytomegalovirus, human herpes virus-6, and herpes simplex virus 1 and 2. Abdominal ultrasound examination was normal. DISCUSSION: The pathogenesis of scarlet fever associated hepatitis remains unclear. Streptococcal pyrogenic exotoxin mediated cellular injury via cytokine production has been proposed as a possible mechanism of hepatotoxicity in GABHS infections. CONCLUSION: Hepatitis secondary to scarlet fever remains a rare but benign entity, with complete recovery expected over weeks to months.

Scarlet fever associated with hepatitis in pediatrics: a case report / Hepatitis asociada a escarlatina en pediatría: reporte de caso

INTRODUCCIÓN: La escarlatina es una enfermedad común en Pediatría, causada por Estreptococo beta hemolítico grupo A (SBHGA), la cual generalmente se presenta después de un episodio de faringitis, y con excelente pronóstico general. La hepatitis secundaria a escarlatina es una complicación, descrita muy rara vez en niños. Nuestro objetivo fue reportar la ocurrencia de hepatitis secundaria a escarlati na en un paciente pediátrico. CASO CLÍNICO: Varón de 12 años cursando escarlatina, quien se presentó con una historia de 4 días de ictericia, coluria y disminución del apetito. Los exámenes de laboratorio revelaron elevación de las transaminasas y de los niveles de bilirrubina total y directa, y estudios vira les negativos para Hepatitis A, B y C, Virus de Epstein Barr, Parvovirus B19, Citomegalovirus, Virus Herpes 6 y Herpes simplex 1 y 2. Ecografía abdominal fue normal. DISCUSIÓN: La hepatitis es una complicación inhabitual de la escarlatina, cuya patogénesis aún no está clara. La producción de citoquinas a través del daño celular mediado por la exotoxina pirógena estreptocócica, se ha propuesto como un posible mecanismo de hepatotoxicidad en infecciones por SBHGA. CONCLUSIÓN: La hepati tis asociada a escarlatina continúa siendo una entidad rara, pero de curso benigno, con recuperación plena en semanas a meses.

INTRODUCTION: Scarlet fever is a common illness in pediatrics caused by group A beta-hemolytic streptococcus (GABHS), which usually occurs after an episode of pharyngitis, and has an overall excellent prognosis. Hepatitis secondary to scarlet fever is a rare complication described in adults and even less frequently in children. Our objective was to describe a case of hepatitis secondary to scarlet fever in a pediatric patient. CLINICAL CASE: A 12-year-old male with scarlet fever presented with a 4-day history of jaundice, dark urine, and decreased appetite. Laboratory tests revealed elevated liver enzy mes and total and direct bilirubin levels, and negative studies for hepatitis A, B and C, Epstein Barr virus, parvovirus B19, adenovirus, cytomegalovirus, human herpes virus-6, and herpes simplex virus 1 and 2. Abdominal ultrasound examination was normal. DISCUSSION: The pathogenesis of scarlet fever associated hepatitis remains unclear. Streptococcal pyrogenic exotoxin mediated cellular injury via cytokine production has been proposed as a possible mechanism of hepatotoxicity in GABHS infections. CONCLUSION: Hepatitis secondary to scarlet fever remains a rare but benign entity, with complete recovery expected over weeks to months.

Cryptosporidium diagnosed on endoscopic biopsy in a paediatric patient with inflammatory bowel disease.

Cryptosporidium, a parasitic infection commonly associated with diarrhoea, may be difficult to differentiate from a flare in patients with inflammatory bowel disease and can lead to unnecessary therapy and increase in morbidity and mortality. We report the case of a paediatric patient who had substantial stool output requiring significant fluid resuscitation and who was later diagnosed with cryptosporidium on endoscopic biopsy. Diagnostic work up for cryptosporidium should be strongly considered when a patient presents with a flare involving massive stool output.

[Pancreatitis, genes and islet cells auto transplant; updates and new horizons]. / Pancreatitis, genes y autotrasplante de islotes; actualizaciones y nuevos horizontes.

Pancreatitis is an inflammation of the pancreas that can progress from an acute presentation to an acute recurring presentation and eventually to chronic pancreatitis, which is characterized by irreversible morphological changes and scarring of the pancreas. The entity known as hereditary pancreatitis has been recognized in the literature for years and certainly the discovery of the PRSS1 gene in 1996 marked the beginning of a new era of genetic discoveries associated with the disease. Since then, multiple genes have been described as the causing agents of pancreatitis or disease modifiers, some of the most important ones being the PRSS1, SPINK1, CFTR, CASR, CTRC, CLDN2, and CPA1. The patient selection process for genetic testing should be guided by the current experts' recommendations and should meet specific corresponding criteria. Once the diagnosis has been made, treatment should be tailored to each patient's particular needs. Certainly, the advent of the total pancreatectomy with auto islet cell transplantation, which has the main goal to improve the pain caused by the chronic pancreatitis and simultaneously reduce the severity of the pancreatectomy induced diabetes, is an attractive alternative in the treatment and management of patient with a diagnosis of hereditary pancreatitis. However, strict criteria and an interdisciplinary management are essential since this surgery is irreversible and carries lifetime health consequences that all patients must be aware of and the medical team must be able to early recognize these and treat accordingly. However, there are many potential areas in this field for more, better and forefront research to be developed aiming for a better understanding of the disease process and for the development of a cure.

Hereditary Pancreatitis.

A 13-year-old boy with a strong family history of hereditary pancreatitis was found to have a PRSS1 mutation after being tested at age 5 years during his first documented incident of pancreatitis. Since then, a multidisciplinary team has been treating him for the diagnosis of hereditary pancreatitis. His pain episodes increased in severity over the past several months such that the pain began to severely interfere with his daily life. After extensive discussion, a total pancreatectomy with auto islet cell transplant was performed. He is now pain free and does not require any insulin. This leads us to the questions of what is hereditary pancreatitis and how is it diagnosed? What are the management and follow-up strategies needed for these patients? This article addresses these questions and informs the reader about this diagnosis and the importance of having a high index of clinical suspicion.

Recurrent Pediatric Perianal Swelling.

Pediatric inflammatory bowel disease is a chronic gastrointestinal disease consisting of Crohn's disease (CD) and ulcerative colitis (UC). Both disease processes can share similar clinical symptoms including abdominal pain, diarrhea, hematochezia, and weight loss; CD can also be complicated by penetrating and fistulizing disease. Perianal skin tags, perianal abscesses, recto-cutaneous fistulae, and rectal stenosis are among the phenotypic characteristics of perianal CD. Current treatment strategies are focused on the surgical drainage of abscesses and the closure of fistulous tracts as well as controlling intestinal inflammation with the use of immunomodulators (6-mercaptopurine and methotrexate) and biologics (infliximab and adalimumab). Current guidelines by the American Gastroenterology Association and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition recommend a combination of surgical intervention and medical management for the treatment of perianal CD.

Prehospital management of acute tachyarrhythmias.

Arrhythmias are commonly encountered by emergency medical services (EMS) personnel. The potential seriousness of acute symptomatic arrhythmias necessitates thorough up-to-date training of EMS personnel. The three most common acute tachyarrhythmias, not linked to cardiac arrest, that are observed outside the hospital are paroxysmal supraventricular tachycardia (PSVT), atrial fibrillation with rapid ventricular response (RAF), and perfusing ventricular tachycardia (VT). Ideally, these tachyarrhythmias should be operationally defined in a manner that simplifies, particularly for EMS providers, their diagnosis and treatment. The authors recommend referring to these rhythms as regular narrow-complex tachycardia (presumed PSVT), irregularly irregular narrow-complex tachycardia (presumed RAF), or regular wide-complex tachycardia (presumed VT or aberrantly conducted PSVT). Although the value of treatments such as cardioversion is widely understood, the benefit from others, such as lidocaine, is unclear. Current preferences, recommendations, and concerns regarding the treatment of most arrhythmias outside the hospital reflect the dichotomy that sometimes exists between available evidence and actual practice.

Multicenter prospective validation of prehospital clinical spinal clearance criteria.

BACKGROUND: Spine immobilization is one of the most frequently performed prehospital procedures. If trauma patients without significant risk for spine injury complications can be identified, spine immobilization could be selectively performed. The purpose of this study was to evaluate five prehospital clinical criteria-altered mental status, neurologic deficit, spine pain or tenderness, evidence of intoxication, or suspected extremity fracture-the absence of which identify prehospital trauma patients without a significant spine injury. METHODS: Prospectively collected emergency medical services data items included the above-listed criteria. Outcome data include spine fracture or cord injury, and also the level and management of injuries. RESULTS: A total of 295 patients with spine injuries were present in 8,975 (3.3%) cases. Spine injury was identified by the prehospital criteria in 280 of 295 (94.9%) injured patients. The criteria missed 15 patients. Thirteen of 15 had stable injuries, the majority of which were stable compression or vertebral process injuries. The remaining two would have been captured by more accurate prehospital evaluation. CONCLUSION: Absence of the study criteria may form the basis of a prehospital protocol that could be used to identify trauma patients who may safely have rigid spine immobilization withheld. Evaluation of such a protocol in practice should be performed.

Performance measurements in emergency medical services.

With the strong encouragement of leading health care agencies, business principles are being implemented throughout health care, including emergency medical services (EMS). The reason is simple--quality of care can be enhanced by incorporating the management concepts of continuous quality improvement (CQI). The CQI process couples carefully identified, measurable performance indicators with information systems to monitor, analyze, and trend data. Benchmarking outcomes with other EMS systems allows the identification of "best practices" and the evolution of standards. Emergency medical services professionals must actively participate with the broader health care community in creating performance measurements to ensure that high-quality care is delivered consistently.