Sub-acute neonatal hemochromatosis in an infant with hypoplastic left heart syndrome on ventricular assist device awaiting transplantation.

Single-ventricle pediatric patients, amongst other children waiting for OHT, are a vulnerable population, especially if candidacy is established before any palliation. NH is a rare disease with poor prognosis in the post-natal period. We present a case of sub-acute NH diagnosed in an infant with HLHS who was listed for OHT while bridged with a pulsatile paracorporeal VAD, with an emphasis on the evolution of the condition throughout the patient's clinical course and the ultimate decision for compassionate deactivation of VAD.

An Unusual Case of a Perforated Meckel's Diverticulum.

Background: Meckel's diverticulum, the most common congenital anomaly of the gastrointestinal tract, typically presents in children with gastrointestinal bleeding. Case Presentation. An 11-year-old Caucasian male presented with a 6 week history of abdominal pain, vomiting, and diarrhea. He was found to have iron deficiency anemia, markedly elevated serum and fecal inflammatory markers, and imaging showing a contained bowel perforation. He was evaluated for infectious etiologies and later underwent extensive testing for inflammatory bowel disease. Ultimately, he was found to have a Meckel's diverticulum, which was successfully resected and led to resolution of his gastrointestinal complaints. Conclusions: This case report highlights one of the more rare presentations in children, which is intestinal perforation. Symptoms of a Meckel's diverticulum can overlap with those of inflammatory bowel disease, as demonstrated by our patient. Clinicians should be familiar with criteria to establish diagnosis of inflammatory bowel disease, and if diagnosis isn't fully supported by testing, they should expand the differential and consider Meckel's diverticulum.

Congenital Portosystemic Shunt Presenting As Hyperammonemia Following Fontan Operation.

The Fontan operation allows survival for children with single ventricle congenital heart disease. In the acute postoperative period, perioperative insults and drastic changes in vascular pressures can potentially cause ischemic liver injury. We present a 3-year-old female with congenital heart disease presenting post-Fontan procedure complicated by altered mental status due to elevated ammonia levels. Etiology of the hyperammonemia was unknown and relatively controlled with medication. Further investigation, however, revealed a congenital portosystemic shunt. Congenital portosystemic shunts, more specifically Abernethy malformations, are rare conditions characterized as intrahepatic or extrahepatic, resulting in diversion of portal flow to systemic.

Unusual Presentation of Cow's Milk Protein Allergy.

Cow's milk protein allergy (CMPA) is an abnormal immunologic response to bovine protein that can result in various gastrointestinal and cutaneous manifestations including diarrhea, failure to thrive, malabsorption, and even protein-losing enteropathy. We describe a case of a 7-month-old breastfed male who presented with severe atopic dermatitis, emesis, oily diarrhea, failure to thrive, electrolyte disturbance, and hemodynamic instability. Following stabilization, additional evaluation revealed concern for abetalipoproteinemia. Ultimately, the patient's symptoms resolved with introduction of an elemental formula and returned with reinitiation of cow's milk protein, confirming the diagnosis of severe CMPA. It is important for the general practitioner to be aware of the various presentations and have a high index of suspicion for CMPA as no symptom or diagnostic test is pathognomonic for diagnosis. Even though it can mimic other causes of malabsorption, a trial with extensively hydrolyzed or elemental formula should be attempted before undertaking invasive testing.

Implementing a Novel Quality Improvement-Based Approach to Data Quality Monitoring and Enhancement in a Multipurpose Clinical Registry.

OBJECTIVE: To implement a quality improvement based system to measure and improve data quality in an observational clinical registry to support a Learning Healthcare System. DATA SOURCE: ImproveCareNow Network registry, which as of September 2019 contained data from 314,250 visits of 43,305 pediatric Inflammatory Bowel Disease (IBD) patients at 109 participating care centers. STUDY DESIGN: The impact of data quality improvement support to care centers was evaluated using statistical process control methodology. Data quality measures were defined, performance feedback of those measures using statistical process control charts was implemented, and reports that identified data items not following data quality checks were developed to enable centers to monitor and improve the quality of their data. PRINCIPAL FINDINGS: There was a pattern of improvement across measures of data quality. The proportion of visits with complete critical data increased from 72 percent to 82 percent. The percent of registered patients improved from 59 percent to 83 percent. Of three additional measures of data consistency and timeliness, one improved performance from 42 percent to 63 percent. Performance declined on one measure due to changes in network documentation practices and maturation. There was variation among care centers in data quality. CONCLUSIONS: A quality improvement based approach to data quality monitoring and improvement is feasible and effective.

A Challenging Treatment Decision for a Rare Association: Case Report of Familial Turcot Syndrome With Fistulizing Crohn's Disease.

Turcot syndrome and fistulizing Crohn's disease (CD) are two disease entities that are not usually associated with one another, particularly given the rarity of the former. This is a case of a pediatric patient with fistulizing CD treated with biologic therapy, who was later found to have Turcot syndrome. Management of this rare combination of diseases can present several challenges, as surgical options may be limited and chronic immunosuppression to treat CD may lead to accelerated progression of malignancy in Turcot syndrome. This unique case highlights the importance of weighing the risks and benefits involved in treating two disease entities that impact one another.

Extracellular Calcium Dictates Onset, Severity, and Recovery of Diarrhea in a Child with Immune-Mediated Enteropathy.

Diarrhea causes monovalent and divalent ion losses that can influence clinical outcome. Unlike the losses of monovalent ions, such as Na+, K+, Cl-, and [Formula: see text], which are generally large in quantity (osmoles) and therefore determine the severity of diarrhea, the losses of divalent ions are relatively small in osmoles and are often overlooked during diarrheal treatment. Studies now suggest that despite divalent ions being small in osmoles, their effects are large due to the presence of divalent ion-sensing receptors and their amplifying effects in the gut. As a result, losses of these divalent ions without prompt replacement could also significantly affect the onset, severity, and/or recovery of diarrheal disease. Herein, we report a case of a malnourished child with an immune-mediated enteropathy who developed episodes of "breakthrough" diarrhea with concurrent hypocalcemia while on appropriate immunotherapy. Interestingly, during these periods of diarrhea, stool volume fluctuated with levels of blood Ca2+. When Ca2+ was low, diarrhea occurred; when Ca2+ levels normalized with replacement, diarrhea stopped. Based on this and other observations, a broader question arises as to whether the Ca2+ lost in diarrhea should be replaced promptly in these patients.