Sengers Syndrome

Background and History: 

Sengers syndrome is a rare inherited condition in which cataracts are found early in life.  They may be present at birth in which case they are called congenital.  Significant heart and muscle disease is present as well and life is short for many patients.

Clinical Correlations: 

Cataracts are usually found at birth or shortly thereafter.  They may be sufficiently dense to interfere with vision and require early surgery.  However, visual rehabilitation is less than optimal as vision is seldom normal and many children attend special schools for the visually impaired.

This disorder also causes weakness of the heart and skeletal muscles.  Muscle weakness, easy fatigability, floppiness (hypotonia), and exercise intolerance are common features.  A metabolic disorder known as lactic acidosis is commonly seen following exercise and must be treated promptly.  The heart muscle is often thickened (hypertrophic cardiomyopathy) and impedes its pumping efficiency.  Most patients have normal intelligence but motor development can be delayed, likely due to the generalized muscle weakness.

Genetics: 

The diagnosis can be made by a variety of specialists, including ophthalmologists, neurologists, cardiologists, and pediatricians.  Most likely it is a team effort because of the widespread impact of the disease.  The heart disease and metabolic lactic acidosis are the most serious threats to life and require prompt treatment.  Even so, many infants succumb in the neonatal period and others may live a decade or two.  There is a considerable range in the severity of this condition.

Diagnosis and Prognosis: 

The diagnosis can be made by a variety of specialists, including ophthalmologists, neurologists, cardiologists, and pediatricians.  Most likely it is a team effort because of the widespread impact of the disease.  The heart disease and metabolic lactic acidosis are the most serious threats to life and require prompt treatment.  Even so, many infants succumb in the neonatal period and others may live a decade or two.  There is a considerable range in the severity of this condition.

Additional Information
Inheritance/Pedigree: 
Autosomal recessive