Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.

Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.

Introduction: ECHS1 encodes for short-chain enoyl-CoA hydratase, a key component in b-oxidation. This enzyme is also involved in the isoleucine and valine catabolic pathways. The literature contains reports of scattered cases of ECHS1 mutation, which show a wide clinical spectrum of presentation.

Two cases of neonatal human parechovirus 3 encephalitis.

We report 2 neonates with human parechoviruses type 3 encephalitis. Both newborns presented with fever, irritability and seizures. Cerebrospinal fluid analyses were normal, but magnetic resonance imaging revealed white matter damage, suggesting human parechoviruse infection.

Teaching neuroimages: neonatal parechovirus encephalitis: typical MRI findings.

A full-term 9-day-old girl presented with fever, irritability, and seizures. The routine CSF examination, cranial ultrasound, and laboratory tests were normal. Brain MRI showed diffuse white matter abnormality (figure).

Fusobacterium nucleatum endocarditis mimicking polymyalgia rheumatica.

A case of Fusobacterium nucleatum endocarditis in an 80-year-old man is reported. The patient presented with a headache and nonspecific musculoskeletal symptoms and was misdiagnosed as having polymyalgia rheumatica. The diagnosis of bacterial endocarditis was delayed because of an insidious presentation, typical in infections with low virulence micro-organisms.