Case Report: Hemophagocytic Lymphocytosis in a Patient With Glutaric Aciduria Type IIC

Hemophagocytic lymphocytosis (HLH) is a rare disease caused by inborn errors of immunity (IEI), secondary to infection, lymphoma or autoimmune disorders, but we often overlook the fact that HLH can be secondary to inborn errors of metabolism (IEM). Here, we describe a patient who was diagnosed with glutaric aciduria type IIC complicated by features suggestive of possible HLH. The diagnosis of glutaric aciduria type IIC, a IEM, was confirmed by whole exome sequencing. The patient was treated with coenzyme Q10 and riboflavin which effectively improved her liver function. During treatment, the patient developed severe anemia and thrombocytopenia. Persistent fever, splenomegaly, cytopenias, increased ferritin, hypertriglyceridemia, hypofibrinogenemia, and hemophagocytosis in the bone marrow pointed to the diagnosis of HLH; however, the patient eventually died of gastrointestinal bleeding. After other potential causes were ruled out, the patient was diagnosed with glutaric aciduria type IIC complicated by features suggestive of possible HLH. When cytopenias occurs in IEM patients, HLH is a possible complication that cannot be ignored. This case suggests a possible relationship between IEM and risk for immune dysregulation.

SARS-Cov-2 and Associated Heart Failure

The newly emerged pandemic of coronavirus-induced disease of the year 2019 (COVID-19) has become the utmost health concern worldwide. Patients with COVID-19 are highly susceptible to develop hypercoagulable state increasing the risk of causing venous and arterial thrombosis at both small and large vessels. Additionally, in patients showing co-morbidities, for instance patients with inborn errors of metabolism linked to heart failure, the complications and mortalities are even higher than in any other case. In such frail patients already showing health concerns, the COVID-19-induced pneumonia may cause acute or chronic cardiovascular complications. Indeed, several reports of thrombotic complications in association with other complications has been presented, such as large vessels storks, clotting of catheters, and myocardial injury. Nevertheless, knowledge on the COVID-19-associated cardiovascular diseases remains scarce. Thus, in this chapter, the authors represent an overview of the available data on the induced heart failure related to COVID-19.

Functional neurologic disorders in an adult with propionic acidemia: a case report

Background Inborn errors of metabolism are often characterized by various psychiatric syndromes. Previous studies tend to classify psychiatric manifestations into clinical entities. Among inborn errors of metabolism, propionic acidemia (PA) is a rare inherited organic aciduria that leads to neurologic disabilities. Several studies in children with PA demonstrated that psychiatric disorders are associated to neurological symptoms. To our knowledge, no psychopathological description in adult with propionic acidemia is available. Case presentation We aimed to compare the case of a 53-year-old woman with PA, to the previous psychiatric descriptions in children with PA and in adults with other inborn errors of metabolism. Our patient presented a large variety of signs: functional neurologic disorders, borderline personality traits (emotional dyregulation, dissociative and alexithymic trends, obsessive-compulsive disorders), occurring in a context of neurodevelopmental disorder. Conclusion Clinical and paraclinical examinations are in favor of a mild mental retardation since childhood and disorders of behavior and personality without any definite psychiatric syndrome, as already described in other metabolic diseases (group 3). Nonetheless, further studies are needed to clarify the psychiatric alterations within adult patients with PA.

Diagnosis and Management of Inborn Errors of Metabolism in Adult Patients in the Emergency Department

Inborn errors of metabolism (IEM) constitute an important group of conditions characterized by an altered metabolic pathway. There are numerous guidelines for the diagnosis and management of IEMs in the pediatric population but not for adults. Given the increasing frequency of this group of conditions in adulthood, other clinicians in addition to pediatricians should be aware of them and learn to identify their characteristic manifestations. Early recognition and implementation of an appropriate therapeutic approach would improve the clinical outcome of many of these patients. This review presents when and how to investigate a metabolic disorder with the aim of encouraging physicians not to overlook a treatable disorder.

Factors Associated with Severe Acute Respiratory Infections Due to Rhinovirus/Enterovirus Complex in Children and Their Comparison with Those of Respiratory Syncytial Virus

Background: Acute respiratory tract infections (ARTIs) are one of the main causes of morbidity and mortality in children under the age of five worldwide. Objectives: The objective of this research was to describe the main characteristics of hospitalized patients with ARTI caused by the rhinovirus/enterovirus (RV/EV) complex and the risk factors associated with severe infection. Methods: This was a retrospective descriptive study in patients from one month to 18-years-old who had been hospitalized for ARTI between October 2015 and December 2019 at Fundación Cardioinfantil in Bogotá, Colombia, and had had an RT-PCR viral panel during their hospitalization. Rhinovirus/enterovirus infection was characterized to identify factors associated with disease severity as compared to respiratory syncytial virus (RSV). A multivariate analysis was performed, controlling for confounding factors, to identify groups at risk of developing associated acute respiratory distress syndrome (ARDS). Results: During the study period, 645 RT-PCRs were performed, with the two main etiological agents identified being RV/EV (n = 224) and RSV (n = 68). The median age of patients with the RV/EV complex was 27 months (IQR: 8 - 70), and seven months for those with RSV (IQR: 2 - 11). Severe RV/EV complex infections required more transfers to intensive care (47% vs. 11%), showed more viral coinfection (OR: 2.13, 95% CI: 1.42 - 4.64), and had less bacterial coinfection (OR: 0.55, 95% CI: 0.31 - 0.98) than RSV infections. The RV/EV group had a higher risk of developing ARDS (OR: 3.6, 95% CI: 1.07 - 12:18), especially in premature infants (P: 0.05; exp(B), 2.99; 95% CI = 1.01 - 8.82), those with heart disease (P: 0.047; exp(B), 2.99; 95% CI = 1.01 - 8.82), and those with inborn errors of metabolism (P: 0.032; exp(B), 5 - 01; 95% CI = 1.15 - 21.81). A total of 13 patients from both study groups died (4.5%), with no differences found between the groups (RV/EV 54% vs. RSV 46%; P = 0.3). Conclusions: Respiratory infection due to RV/EV in children can frequently be severe, requiring management with intensive care therapy. When compared to RSV, this complex is more frequently associated with the development of ARDS, especially in risk groups such as those with prematurity, heart disease, or inborn errors of metabolism.