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Despite the fact that mental retardation, microcephaly, seizures, and hyperactivity are common in patients with ring chromosome 4, little has been written about the underlying neuropathology. We describe a 6-year-old girl whose neuropathological findings included low brain weight, abnormal gyral development, and heterotopic neurons. The significance of these findings in regard to other retardation syndromes is discussed. [ABSTRACT FROM PUBLISHER]

A cross-sectional survey of medical students, pediatrics residents, and neonatologists attempted to identify the combined influence of education and experience on ethical attitudes regarding the management of infants weighing less than 750 g at birth. Of the 120 people surveyed, 94 (78%) returned usable surveys. All groups rated quality of life the most important criterion in treatment decisions. Conversely, cost was rated least important by each group. In addition, cost was rated relatively more important by the clinical medical students than by the preclinical students, residents, or neonatologists. The neonatologist was rated the most important decision maker by the neonatologists and the residents. The parents were rated most important by both groups of students. Severe mental retardation was regarded as an unacceptable quality of life by 82% of the neonatologists, 63% of the residents, 61% of the clinical students, and 48% of the preclinical students. Severe cerebral palsy was considered an unacceptable quality of life by 73% of the neonatologists, 63% of the residents, 50% of the clinical students, and only 32% of the preclinical students. Finally, the anticipated long-term outcome of extremely-low-birth-weight infants was viewed more positively by the neonatologists than by the other groups surveyed.

In contrast to previous investigations, a recent study of polycythemic lambs suggested that cerebral glucose delivery (concentration x blood flow), not arterial glucose concentration, determined cerebral glucose uptake. In the present study, the independent effects of arterial glucose concentration and delivery on cerebral glucose uptake were examined in two groups of chronically catheterized newborn lambs (control and polycythemic). Arterial glucose concentration was varied by an infusion of insulin. CBF was reduced in one group of lambs (polycythemic) by increasing the hematocrit. At all arterial glucose concentrations, the cerebral glucose delivery of the polycythemic group was 59.6% of the control group. At arterial glucose concentrations of greater than 1.6 mmol/L, cerebral glucose uptake was constant and similar in both groups. At arterial glucose concentrations of less than or equal to 1.6 mmol/L, cerebral glucose uptake was unchanged in the control group, but was significantly decreased in the polycythemic group. In contrast, the cerebral glucose uptake was similar in both groups over a broad range of cerebral glucose delivery values. At cerebral glucose delivery values less than or equal to 83 mumols/min/100 g, there was a significant decrease in cerebral glucose uptake in both groups. During periods of low cerebral glucose delivery and uptake, cerebral oxygen uptake fell in the control group but remained unchanged in the polycythemic group. Maintenance of cerebral oxygen uptake in the polycythemic group was associated with an increased extraction and uptake of lactate and beta-hydroxybutyrate. We conclude that cerebral glucose delivery, not arterial glucose concentration alone, determines cerebral glucose uptake.

There is currently no set of evaluations that allows for the accurate prediction of survival or death following severe perinatal asphyxia and the development of hypoxic-ischemic encephalopathy. We hypothesized that low cerebral blood flow velocity, as determined by Doppler ultrasonography, may predict neurologic nonviability in a group of severely asphyxiated infants who exhibited signs of severe encephalopathy. Using the staging system of Sarnat and Sarnat, 11 infants who had had severe perinatal asphyxia were studied at the time that their neurologic examinations met the criteria for stage 3 encephalopathy. Apgar scores, cord or initial blood gases and pH, blood pressure, heart rate, and electroencephalographic findings were similar between those infants who survived (N = 8) and those who died due to cerebral injury (N = 3). Cerebral blood flow velocity, however, was significantly lower in those infants who died (3,288 +/- 884 vs 1,051 +/- 789 planimeter units/min; P less than .005). All infants who died had retrograde diastolic blood flow in the common carotid artery. In the study group the combination of low cerebral blood flow velocity and retrograde diastolic blood flow in the common carotid artery allowed prediction of survival and death with sensitivity and specificity of 100% (P less than .006). Following perinatal asphyxia and the development of severe encephalopathy, the finding of low cerebral blood flow velocity appears to be predictive of neurologic nonviability.

Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition.

A child with typical histopathologic changes of Leigh's subacute necrotizing encephalomyelopathy presented with a chronic demyelinating neuropathy. During her 11-year course, she developed an unusual myopathy and cardiomyopathy in addition to many of the previously described manifestations of Leigh's disease. Despite an extensive evaluation, the biochemical basis of her condition was never identified. This case demonstrates another unique constellation of clinical alterations associated with subacute necrotizing encephalomyelopathy, and that chronic demyelinating neuropathy can be an important initial presentation of the disease.

Serial neurosonography was performed in 210 high-risk, preterm neonates. Eleven (5.8%) demonstrated small cystic formations in the subependymal lining of the lateral ventricles. These subependymal cysts were unilateral and were detected at the exact site of a previous subependymal hemorrhage in two cases. These 11 infants were not significantly different in maturity, size, or clinical parameters from our main high-risk newborn population. Ten survivors had marked motor retardation at follow-up ages of 9-13 months, and one died from neonatal sepsis.

It is widely believed that the child who drowns and is in cardiopulmonary arrest on arrival at the emergency room will probably suffer severe neurological sequelae despite resuscitation. In cases of cold water drowning, however, hypothermia (less than 32 degrees C) may confer substantial protection to the CNS if the basic hypoxic state can be readily reversed.

The distribution of substance P and leucine-enkephalin in selected regions of brain obtained postmortem from patients with Huntington's disease and from neurologically normal persons has been studied with immunocytochemical techniques. In the normal brain, substance P immunoreactivity was identified in medium-sized neurons in the neostriatum, in neurons of the external segment of the globus pallidus, and in fine fibers in teh neostriatum, inner segment of the globus pallidus, and in the pars reticulata of the substantia nigra. Huntington's disease brains all exhibited a marked decrease in substance P fiber density in the substantia nigra and globus pallidus. A few medium-sized neurons with substance P immunoreactivity remained in the neostriatal remnant. Leucine-enkephalin immunoreactive processes were present throughout the neostriatum of normal brain, and were densely packed in the external segment of the globus pallidus and in the substantia nigra. A uniform population of medium-sized neurons containing immunoreactive leucine-enkephalin was present in the caudate and putamen. By contrast, in the Huntington's disease brains there was a marked diminution of fiber staining in the globus pallidus and substantia nigra. A few medium-size neurons and sparse fibers with leucine-enkephalin immunoreactivity persisted in the atrophic neostriatum. These observations are consistent with previous reports of regional peptide concentrations in both normal and Huntington's disease brain. Cells containing substance P and leucine-enkephalin immunoreactivity persist in the basal ganglia in brains from patients with Huntington's disease, and we have no evidence that cellular content of one or the other peptide is associated with disproportionate cell death or survival.

This is a report of an infant with cutaneous hemangiomas who underwent successful resection of an extensive hemangioma of the liver as well as multiple intestinal hemangiomas. Later, he developed hydrocephalus due to a cerebellar cystic hemangioblastoma. This case documents the usefulness of cranial computed tomography (CCT) in determining the extent of involvement in disseminated neonatal hemangiomatosis.