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.

Intrauterine hyperparathyroidism. Postmortem findings in two cases.

Intrauterine hyperparathyroidism is a self-limited condition seen in the neonate born of a mother with poorly controlled hypoparathyroidism. In this report, we describe the histologic findings in bone and parathyroids in twin infants with this condition who died from other causes. The skeleton showed osteopenia with evidence of increased bone turnover and defective mineralization, and there was parathyroid gland hyperplasia of the water-clear cell type.

Sphenoethmoidal encephalocele: a case report with review of the literature.

A rare case of sphenoethmoidal encephalocele with detailed pathological studies is reported. Only a few cases have been documented and were reviewed. The etiology and embryology of the congenital malformation remains speculative with an agreement on their development at an early embryonic stage.

Brain changes in newborns, infants and children with congenital heart disease in association with cardiac surgery. Additional observations.

The histopathologic pattern in the Central Nervous System in 12 out of 21 new-borns and young infants, below 2 months of age, operated for various congenital heart defects, is that of recent necroses in the deep and subcortical white matter of the pallium, seen from a few hours to 8 days following completion of surgery. Type and location of these lesions of ischemic coagulative necrosis, resembling findings in the perinatal respiratory distress syndrome, seem to depend on shock-like states, the low output syndrome of the left heart with hypovolemia and hypotension. The cause of death in all these infants was cardio-respiratory failure.