Cerebrocortical Degeneration of Infancy

A progressive form of cerebral degeneration of childhood.

Most likely a genetic disorder first described by Laurence and Cavanagh in 1968.

Unknown. One case series of the disorder affecting two girls in one family, two boys in a second family, and one male in a third family has been reported.

Likely autosomal recessive.

Progressive atrophy of the cerebral cortex already occurs in infancy and is basically confined to the gray matter. At the time of autopsy, all the brains of these patients showed severe ulegyria (i.e., scarring and atrophy of cerebral gyri secondary to a prenatal or perinatal injury) and a uniformly severe destruction of neurons in the cerebral cortex with astrocytic replacement and microglial invasion. The basal ganglia were relatively preserved, with loss of neurons limited to the thalamus. It has been hypothesized that a genetic predisposition to thiamine deficiency is responsible for the described features, as a similar form of degeneration could be found in calves with thiamin deficiency.

Depends on the histologic findings at autopsy.

Affected patients appear normal at birth, with no history of traumatic or anoxic injury. However, developmental arrest presents in the first few months of life with progression to decerebrate rigidity. Seizures may occur. Death resulted from overwhelming infection.

Patients may need anesthesia/sedation for diagnostic procedures (e.g., computed tomography scanning and/or magnetic resonance imaging). Assess neurologic status preoperatively and obtain history of seizures. Assess for pulmonary infections from recurrent aspirations.

Depending on the procedure, the respiratory status may be exacerbated in the presence of preexisting compromised respiratory function. Prolonged postoperative mechanical ventilation may be required.

Antiepileptic treatment may result in interaction with anesthetic drugs and alter their metabolism. Avoid medications that lower the seizure threshold.