Abnormal cerebral cortical neurons in a child with maternal PKU syndrome.

A child born to a phenylketonuric (PKU) woman not on dietary treatment was microcephalic and had congenital heart and other physical anomalies consistent with the maternal PKU syndrome. After a repeat cardiac catherization at 3 months of age, he suffered an embolic left cerebral infarct and seizures. He was found by his mother dead in bed at 4 months of age; general autopsy revealed Klebsiella sepsis and pneumonia.

Correlating auditory evoked and brainstem histologic abnormalities in infantile Gaucher's disease.

In an infant with Gaucher's disease, brainstem auditory evoked responses were abnormal on three separate occasions. Only waves I and II were typically present at standard intensity settings, although a third peak was elicited at 88 dB. Histologic studies demonstrated absence of neurons in the cochlear nuclei and a hypoplastic superior olivary complex.

Myelopathy with severe structural derangement associated with combined modality therapy.

Myelopathy is a known complication of radiation therapy, but its association with chemotherapy has been less well documented. The authors report the case of a 12-year-old boy with medulloblastoma who had been followed for an 8 1/2-year period. In the context of accepted doses of intrathecal methotrexate and spinal irradiation, he developed an extensive myelopathy.

Intraventricular hemorrhage in full-term neonates.

The neuropathological and general pathological features of intraventricular hemorrhage are described in 32 neonates who had been born at term. Although the most common site of bleeding was the choroid plexus, a significant minority occurred in the subependymal germinal matrix. Associated neuropathological findings included meningeal venous congestion, periventricular white-matter necrosis and subarachnoid hemorrhage.