title: Cardiomyopathy in a male patient with neutropenia and growth delay.
abstract: Neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, ranging from severe (<500 neutrophils/mm(3)) to mild (500-1500 neutrophils/mm(3)), which may also affect other organ systems such as the pancreas, central nervous system, heart, muscle and skin. Neutropenia can lead to life-threatening pyogenic infections whose severity is roughly inversely proportional to the circulating neutrophil counts.When neutropenia is detected, an attempt should be made to establish the etiology, and to distinguish acquired forms (the most frequent, including post viral neutropenia and autoimmune neutropenia) and congenital forms (rare disorders) that may be either isolated or part of a complex rare genetic disease. We report on a male patient initially diagnosed with isolated neutropenia who later turned out to be affected with Barth syndrome, a rare complex inherited disorder.
authors.forename: Veronica
authors.initials: V
authors.lastname: Folsi
authors.forename: Nunzia
authors.initials: N
authors.lastname: Miglietti
authors.forename: Annamaria
authors.initials: A
authors.lastname: Lombardi
authors.forename: Sara
authors.initials: S
authors.lastname: Boccacci
authors.forename: Tatiana
authors.initials: T
authors.lastname: Utyatnikova
authors.forename: Chiara
authors.initials: C
authors.lastname: Donati
authors.forename: Livia
authors.initials: L
authors.lastname: Squassabia
authors.forename: Laura
authors.initials: L
authors.lastname: Gazzola
authors.forename: Ilaria
authors.initials: I
authors.lastname: Bosio
authors.forename: Adele
authors.initials: A
authors.lastname: Borghi
authors.forename: Veronica
authors.initials: V
authors.lastname: Grassi
authors.forename: Lucia D
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Department of Pediatrics, Pediatrics Clinic, Spedali Civili of Brescia, Brescia, Italy. plebani@med.unibs.it.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Plebani
mesh_terms: D000015:Abnormalities, Multiple; D000217:Acyltransferases; D056889:Barth Syndrome / Q000175:diagnosis / Q000235:genetics; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000235:genetics; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004452:Echocardiography; D020022:Genetic Predisposition to Disease; D006130:Growth Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009503:Neutropenia / Q000175:diagnosis*; D013902:Radiography, Thoracic; D014157:Transcription Factors / Q000235:genetics
chemical_list: D014157:Transcription Factors; D004247:DNA; D000217:Acyltransferases; C108675:TAFAZZIN protein, human