Cataracts, Congenital, with Brain Hemorrhage and Subependymal Calcification
Patient Information
Characteristics
Background and History
This is a recently described disorder found among Arabian people in the Middle East.
Clinical Correlations
Infants have dense cataracts at birth. Hemorrhages into brain tissue lead to cystic brain damage and developmental delays. The reflexes are exaggerated and infants are often stiff. They may have frequent seizures. The forehead is prominent. The liver is sometimes enlarged and the kidneys may be small and located in unusual positions. Most individuals do not live beyond infancy although several have lived to at least 3 years of age.
Genetics
Inheritance
This is an autosomal recessive condition caused by the inheritance of a mutation from both father and mother. When both parents (who are normal) carry the specific mutation the risk for each of their children to inherit the disorder is 25%.
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
An ophthalmologist can diagnose the cataracts at birth. Pediatricians and neurologists could diagnose this disorder with the aid of brain CT and MRI scans. No treatment is available.
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