Barth Syndrome

From Anvita Health Wiki

Contents 1 Epidemiology 2 Pathology 3 Genetics 4 Laboratory 5 Management 6 More General Terms 7 References

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

• X-linked inheritance Clinical manifestions:
• motor delays
• hypotonia
• delayed growth
• chronic fatigue
• lack of stamina
• mouth ulcers
• diarrhea
• physical & learning disability

Laboratory

• hypoglycemia
• neutropenia

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

• neuromuscular disease; myoneural disease
• metabolic disease
• developmental disorder
• X-linked disease

References

NINDS Barth Syndrome Information Page [1]

Barth syndrome