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The suspicion of an abnormality of the central nervous (CNS) system raises difficult questions for the clinician and the family and will inevitably lead to considerable anxiety. These questions include what it means for the child's future, whether it can be treated and whether it will happen again in subsequent pregnancies. For many disorders accurate prenatal diagnosis remains elusive, as even with fetal magnetic resonance imaging (MRI), early recognition and characterisation are simply not possible because of the immature state of brain development at that stage of pregnancy. The natural history of many prenatally diagnosed CNS disorders remains to be elucidated which means that an accurate prognosis cannot be given in all cases. We review the current state of knowledge regarding the investigation, management and prognosis of the most common and important CNS malformations. We also discuss the post-natal management of these conditions both in the neonate and subsequent pregnancies for the families.

The rat with micrencephaly, produced by prenatal exposure to methylazoxymethanol, provides a useful model to study neurobehavioral abnormalities associated with congenital brain defects. The micrencephalic animals have a life-long learning impairment. As they age, their already impaired learning competence deteriorates further. To determine whether the aging-associated functional deterioration could be ameliorated by a neural transplant, micrencephalic rats bearing solid transplants of normal fetal neocortical tissue since infancy were evaluated on a visual pattern discrimination learning at 15 months and a spatial navigation test at 24 months of age. The transplant-bearing rats learned both tasks significantly better than the micrencephalic rats without transplants. Morphometric analyses revealed that cortical pyramidal neurons were larger in the transplant-bearing rats than in micrencephalic rats without transplants. The life-long presence of a transplant appeared to have protected the micrencephalic brain against aging-associated deterioration. This is the first demonstration that a neural transplant, placed in a congenitally defective infant brain, can ameliorate aging-associated cognitive deficits.

A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.

Sixty-seven appropriate-for-date infants with gestations less than 33 weeks were followed for 12 months after their term dates. All had been born after September 1970. None received hypercaloric alimentation as neonates. Growth from the expected date of delivery was compared with that of 24 normal full-term infants and with accepted growth standards. The boys did not differ from the controls or the standard in mean weight, length, and head circumference, in weight and height indices, or in velocity of weight and linear growth. The girls had a slower velocity of weight growth for the first six months and had significantly lower weight indices at 12 months than did their controls. Velocity of linear growth, height indices, and mean length and head circumference for the girls were similar to those of the control standards. Gross central nervous system defects occurred in 22.5% of the boys but in none of the girls. More than one half of the abnormalities were hydrocephaly. The mean post-conceptional developmental quotient was 110 for the girls and 108 for the boys.