A Nonclassical Clinical Course of Barth Syndrome

Abstract

A 6-year-old boy of Roma decent, born to nonconsanguineous, healthy parents was primarily referred because of growth retardation. Auxological parameters were below the 3rd percentile after having been normal at birth. The 3rd percentile had been crossed at age 12 months, without any catch-up growth afterward. Especially, the extent of microcephaly (A (p.Arg94His) in the tafazzin gene (NM_000116). This mutation has been described as associated with early onset, severe Barth syndrome.1 The diagnosis of Barth was supported by a specific pattern of fatty acid profile of cardiolipin. Nevertheless, characteristic signs and symptoms for Barth syndrome such as cardiomyopathy, neutropenia, or 3-methylglutaconic aciduria have never been observed in the patient. At the age of 10 years, the patient shows persistent growth retardation and very mild exercise intolerance. Echocardiography and white blood cell counts as well as psychomotor development are persistently normal for age. Reference