His ventricles, normally small fluid-filled cavities in the brain, were too large. A part of the baby’s cerebellum jutted at an odd angle. “There wasn’t any part of the brain that wasn’t involved and affected in this child,” Bennett says. Microglia, scientists have started to realize, guide the development of the brain. In the absence of microglia, the boy’s neurons still grew to fill his skull, but they ended up in the wrong places and made the wrong connections. The boy’s case makes their importance unmistakable. Microglia make up 10 percent of the brain’s cells, but they are not neurons and therefore have long been overlooked. The answer was ultimately stranger than doctors could have imagined: The boy’s brain was missing an entire type of cell, called microglia, the result of mutations in a single gene, called CSF1R. Bennett, a pediatric geneticist at Seattle Children’s, was tasked with figuring out why. The structures in his brain looked wrong. That is how James Bennett first met the boy, then a days-old infant struggling to breathe. Even before he was born, it was clear that the boy’s brain was unusual-so much so that his expecting parents flew from rural Alaska to Seattle, where specialists could attend to their son from birth.
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