Sengers Syndrome
Patient Information
Characteristics
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
Inheritance
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.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
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.
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