This is one of many hereditary congenital disorders of brain degeneration (encephalopathy) resulting from gene mutations. It is a rare condition and only a few families have been reported.
Evidence of this condition may be present at birth in many infants as the muscle weakness interferes with breathing and assistance is required. Eye contact and lack of eye following movements are often noted at birth as well. Growth and general development are delayed and patients are weak and floppy although later the muscles may get spastic (tight). Brain imaging may reveal atrophy (lack of development) in structures throughout. Seizures may occur.
The optic nerve also may have atrophy similar to the rest of the brain. The eyebrows are sometimes sparse and the lid openings often slant upward. The jaw may be small and the teeth can have wide spaces between them. Speech may be absent or deficient. Some patients are unable to walk and are usually unable to care for themselves.
This is an autosomal recessive disorder resulting in changes (mutations) in both members of a pair of genes. The clinically normal parents each with one copy of the mutations can expect on average that one in four (25%) of their children will inherit this condition. Only a few families have been reported.
The neurological components may be present at birth as observed by pediatricians, neurologists, and ophthalmologists. Many features are nonspecific and nondiagnostic so that gene studies are necessary to confirm this specific type of encephalopathy.
No treatment has been reported and only supportive care is available. The condition is progressive and several patients have died in infancy.