Patients have congestive heart failure, symptomatic before one year of age, neutropenia (chronic, cyclic, or intermittent), muscle hypoplasia and weakness, failure to thrive and growth retardation, 3-methyl-glutaconic aciduria, cardiolipin deficiency. The consequences of neutropenia may be severe (septicemia in newborns) or less dramatic with bacterial skin infections and oral aphtous lesions. Other important clinical problems are frequent diarrhea, recurrent aphtous ulcers, hypoglicemia, osteoporosis, chronic headache and body aches, especially during puberty, extreme fatigue, feeding problems, mild learning disabilities, high incidence of minor congenital malformations.
Diagnosis
Diagnostic recommendations
Additional Information
- Barth syndrome, ORHANET
- Neutropenia, eMedicine
- X-linked dilated cardiomyopathy (Barth syndrome), Department of Neurology, Washington University School of Medicine
- NINDS Barth Syndrome Information Page, National Institute of Neurological Disorders and Stroke
- Barth Syndrome, National Organization for Rare Disorders
Diagnostic laboratories
Clinical:
Genetic:
Therapeutic options
- Treatment is supportive and multidisciplinary, patients are followed up by cardiologists and hematologists.
- Neutropenia, eMedicine