This is a recently reported severe inherited brain development disorder so far reported in 4 families of mixed ethnic background.
Several infants were noted to have small heads (microcephaly) and poor eye contact from birth but these are inconsistent features. By 4 to 6 months of age poor feeding and breathing difficulties are usually evident. Developmental delays and regression in milestones becomes apparent. Abnormal accelerated and writhing movements, as well as tremors become evident. Truncal weakness is often evident but stiffness and increased reflexes in the limbs can occur at the same time. Contractures of the joints and abnormal curvature of the spine may develop. Inability to walk and speak is common.
MRIs of the brain show widespread abnormal architecture and muscle studies show poor function of respiratory enzymes while a substance known as lactate is increased in the blood serum and in the spinal fluid.
This is an autosomal recessive disorder in which mutations are present in both members of a specific gene. Parents with one mutation are clinically normal but if both carry one copy of the mutation, each of their children have a 25% risk of developing this condition.
The small head may call attention to this disorder at birth but this is a nonspecific sign. It is more likely that the diagnosis is made during the first 6 six months based on the complete clinical picture of the lack of neurological development. Pediatricians, ophthalmologists, and perhaps radiologists are most likely to collaborate in the diagnosis and care of these infants. Seizures have not been reported.
No treatment of the general condition has been reported. Several infants have died in the first year of life but at least one lived into the second decade.