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At a glance

A progressive form of cerebral degeneration of childhood.


Unknown. A single 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.

Genetic inheritance

Most likely autosomal recessive. No consanguinity was detected.


Based on the clinical and histopathological findings at autopsy.

Clinical aspects

Except for one, all affected patients appear normal at birth, with no history of traumatic or anoxic injury. In the first few months of life, neuromuscular development appears normal, however, then arrests (or even regresses) leading to profound neuromuscular developmental delay with progression to decerebrate rigidity. Microcephaly and limb spasticity were present in all patients, while seizures and mild hepatosplenomegaly were found in 40%. Peculiar facies, high-arched palate, and low-set ears were inconsistent findings. Death occurred in all patients before 2 years of age and was caused by overwhelming infection in four patients, while one died from a choking episode. Hydrocephalus (internal and external) was noted with progressive and severe atrophy of the cerebral cortex that mainly affected the gray matter, but in one case, the white matter was also severely atrophied and indurated. At the time of autopsy, all brains showed severe ulegyria (ie, scarring and atrophy of cerebral gyri usually secondary to a pre- or perinatal injury) and consistent severe destruction of neurons in the cerebral cortex with astrocytic and microglial proliferation. The basal ganglia were relatively preserved, with loss of neurons limited to the thalamus. The dentate nucleus, globus pallidus, putamen, subthalamic nuclei, pons, medulla, cerebellum, and spinal cord showed no obvious neuronal changes and the cell population appeared to be normal. This was in sharp contrast to the severe depletion of neurons in the anterior nucleus of the thalamus and the central median nucleus. The cytoarchitecture of the cortex was grossly abnormal with a severely reduced number of neurons. The amount of myelinated fibers in the white matter of the cerebral hemispheres was significantly reduced and concomitant microglial overgrowth was noted. It has been hypothesized that a genetic predisposition to thiamine deficiency may be responsible for the described features, as a similar form of degeneration (known as cerebrocortical necrosis or polioencephalomalacia) could be found in calves with thiamin deficiency.

Precautions before anesthesia

Patients may need anesthesia/sedation for diagnostic procedures (eg, CT- or MRI-scanning). Assess the neurologic status preoperatively; obtain history of seizures and response to treatment. Check for signs of pulmonary infections due to recurrent aspirations. Prolonged postoperative mechanical ventilation may be required and should be arranged beforehand. Preoperative blood work should include a complete blood count (hepatosplenomegaly), serum electrolytes, and liver function tests. Anticonvulsant therapy should be continued until the morning of surgery ...

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