Abstract
A non-classical clinical course of Barth Syndrome (BTHS) A six year-old boy, born to non-consanguineous, healthy parents was primarily referred because of growth retardation. Auxological parameters were below the 3rd percentile after having been normal at birth. Especially the extent of microcephaly ( Conclusion Regarding our patient we would recommend testing for BTHS even by an incomplete phenotype like growth retardation and muscular symptoms. Otherwise this potentially life-threatening inborn error of metabolism is likely to be underdiagnosed. The novel method for cardiolipin analysis by UPLC-MS shows 100% sensitivity and specificity for BTHS, making it a reliable screening-test. Abnormal cardiolipin ratio testing can be followed by genetic testing for TAZ-mutations. An early diagnosis of BTHS showed a marked increase in lifespan and quality of life due to appropriate supportive management.
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