RESUMEN
INTRODUCTION: Infective endocarditis is more prevalent among children with congenital heart diseases as compared to healthy children. Community-acquired methicillin-resistant Staphylococcus aureus is a causative pathogen of infective endocarditis, and it rarely causes pancarditis in healthy children. The clinical decision for surgical intervention of left-sided heart vegetation is challenging despite the availability of management guidelines. PRESENTATION OF CASE: We report a case of a previously healthy 12-year-old girl who presented with aggressive endocarditis secondary to community-acquired methicillin-resistant Staphylococcus aureus infection, with left-sided vegetation, mitral valve regurgitation, pancarditis, brain abscess, and stroke. She underwent an emergency vegetectomy and mitral valve repair. Three weeks after the first surgery, she developed left ventricular pseudoaneurysm that required life-saving surgical intervention. The child gradually recovered and was discharged home with acceptable cardiac function and mild neurological deficit. DISCUSSION: Pancarditis, especially with an aggressive progression resulting in intracardiac pseudoaneurysm, is rarely reported in healthy children. The definition of the optimal timing of surgical intervention in pediatric infective endocarditis management is lacking and the clinical decision-making process remains challenging. The development of left ventricular pseudoaneurysm is serious and also needs an immediate intervention, given the high risk of its rupture and subsequent devastating outcomes. CONCLUSION: Community-acquired methicillin-resistant Staphylococcus aureus is an etiology for aggressive infective pancarditis in a healthy child, leading to an intracardiac pseudoaneurysm. Emergency surgical interventions should be considered in children with left-sided vegetation to prevent devastating consequences.
RESUMEN
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 cases of this syndrome have been reported to date. We describe the case of a male infant with typical symptoms of JBS. In addition, a new clinical feature which has not previously been documented, that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed. A molecular study was performed which revealed a novel homozygous UBR1 mutation. Possible explanations for this new association are discussed.