ObjectivesTo characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype.MethodsWe studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD). Genetic studies included whole exome sequencing (WES) and candidate gene screening. Patients’ primary cells were used for deep RNA and tRNA sequencing, cytokine profiling, immunophenotyping, immunoblotting and electron microscopy (EM).ResultsWe identified eight mutations in these nine patients, three of which have not been previously associated with SIFD. Three patients died in early childhood. Inflammatory cytokines, mainly interleukin (IL)-6, interferon gamma (IFN-γ) and IFN-induced cytokines were elevated in the serum, whereas tumour necrosis factor (TNF) and IL-1β were present in tissue biopsies of patients with active inflammatory disease. Deep tRNA sequencing of patients’ fibroblasts showed significant deficiency of mature cytosolic tRNAs. EM of bone marrow and skin biopsy samples revealed striking abnormalities across all cell types and a mix of necrotic and normal-appearing cells. By immunoprecipitation, we found evidence for dysregulation in protein clearance pathways. In 4/4 patients, treatment with a TNF inhibitor suppressed inflammation, reduced the need for blood transfusions and improved growth.ConclusionsMutations of TRNT1 lead to a severe and often fatal syndrome, linking protein homeostasis and autoinflammation. Molecular diagnosis in early life will be crucial for initiating anti-TNF therapy, which might prevent some of the severe disease consequences.

Eating behaviour disorder during early childhood is a common pediatric problem. Many terminologies have been used interchangeably to describe this condition, hindering implementation of therapy and confusing a common problem. The definition suggests an eating behaviour which has consequences for family harmony and growth. The recent Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition does not cover the entire spectrum seen by pediatricians. Publications are substantive but level of evidence is most of the time low. This purpose of this review is to clarify terminology of eating behaviour problems during early childhood; including benign picky eating, limited diets, sensory food aversion, selective eating, food avoidance emotional disorder, pervasive refusal syndrome, tactile defensiveness, functional dysphagia, neophobia and toddler anorexia. This tool is proposed only to ease the clinical management for child care providers. Diagnostic criteria are set and management tools are suggested. The role of dietary counselling and, where necessary, behavioural therapy is clarified. It is hoped that the condition will make its way into mainstream pediatrics to allow these children, and their families, to receive the help they deserve.

Our prevalence of tuberculosis and latent tuberculosis is a sentinel indicator of continued transmission in the community. The data support the current recommendations that children who receive BCG can and should be tested with PPD for latent tuberculosis and tuberculosis.

Coronavirus Disease 2019 (COVID-19) affects more adults than children worldwide, and infected children have low mortality rates; however, COVID-19 can be complicated by an inflammatory Kawasaki-like syndrome called multisystem inflammatory syndrome associated with COVID-19 (MIS-C). We report a case of MIS-C from Riyadh, Saudi Arabia, in a 4-year-old Saudi girl who presented with acute febrile gastroenteritis and persistent fever. Her condition improved spontaneously during admission and she did not require pediatric intensive care unit admission.

Kawasaki disease (KD), formerly known as mucocutaneous lymph node syndrome, is one of the most quintessential self-limiting forms of vasculitides among children. Nevertheless, sparse cases of adulthood KD have been also identified. Despite the self-limited (indolent) nature of this disease, patients tend to present with fever and signs of acute inflammation which may averagely last for up to 12 days without treatment, yet high index of clinical suspension is needed in atypical cases early during the course of the disease in order to minimize associated morbidity and mortality. Herein, we report an unorthodox case of KD of a 13-year-old male patient who started with cervical lymph node enlargement, followed by fever.