title: Recurrent pericarditis in Myhre syndrome.
abstract: Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate. Other clinical features include skeletal dysplasia, developmental delay with intellectual disability and/or behavioral disturbance, cardiac defects, cryptorchidism, and bone anomalies. The disease is caused by recently identified SMAD4 mutations. Here we describe a 7-year-old boy with a molecularly proven Myhre syndrome who presented life-threatening recurrent pericarditis and systemic inflammatory symptoms that required treatment with steroid and recombinant interleukin-1 receptor antagonist.
authors.affiliation: Pediatria II, G. Gaslini Istitute, and University of Genoa, Genoa, Italy. paolopicco@ospedale-gaslini.ge.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Picco
authors.forename: Aldo
authors.initials: A
authors.lastname: Naselli
authors.forename: Giovanna
authors.initials: G
authors.lastname: Pala
authors.forename: Alberto
authors.initials: A
authors.lastname: Marsciani
authors.forename: Antonella
authors.initials: A
authors.lastname: Buoncompagni
authors.forename: Alberto
authors.initials: A
authors.lastname: Martini
mesh_terms: D002648:Child; D003456:Cryptorchidism / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D019066:Facies; D006130:Growth Disorders / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D006984:Hypertrophy / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D007592:Joint Diseases / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D008297:Male; D010493:Pericarditis / Q000150:complications* / Q000188:drug therapy / Q000235:genetics; D011241:Prednisone / Q000627:therapeutic use*; D012008:Recurrence; D051901:Smad4 Protein / Q000235:genetics*; D016896:Treatment Outcome
chemical_list: D053590:Interleukin 1 Receptor Antagonist Protein; D051901:Smad4 Protein; D011241:Prednisone