A progressive form of cerebral degeneration of
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.
Laurence KM, Cavanagh JB: Progressive degeneration of the cerebral cortex
in infancy. Brain
Pill AH: Evidence of thiamine deficiency in calves affected with
cerebrocortical necrosis. Vet Rec