Barth syndrome
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Epidemiology
- rare, congenital disorder
- affects at least 50 families worldwide, but may be underdiagnosed
- affects boys
Pathology
- metabolic changes
- cardiomyopathy
- weakened immune system
- hypoglycemia
Genetics
Clinical manifestations
- motor delays
- hypotonia
- delayed growth
- chronic fatigue
- lack of stamina
- mouth ulcers
- diarrhea
- physical & learning disability
Laboratory
Management
- no specific treatment
- bacterial infections in the context of neutropenia can be effectively treated with antibiotics
- granulocyte colony stimulating factor (G-CSF) is useful
- treat cardiomyopathy if indicated
- dietary supplementation with carnitine helps some, but in others has resulted in increasing muscle weakness & has precipitated heart failure
Prognosis:
- infections & heart failure are common causes of death
More general terms
References
- ↑ NINDS Barth Syndrome Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Barth-Syndrome-Information-Page