Abstract
Brain malformations are a common finding in patients with microcephaly, increasing the probability of an underlying genetic disorder. If combined with further findings such as developmental delay or a seizure disorder, cerebral MR imaging with neuroradiological evaluation should therefore be considered early during clinical workup. In particular, the observation of holoprosencephaly or cortical ...
Abstract
Brain malformations are a common finding in patients with microcephaly, increasing the probability of an underlying genetic disorder. If combined with further findings such as developmental delay or a seizure disorder, cerebral MR imaging with neuroradiological evaluation should therefore be considered early during clinical workup. In particular, the observation of holoprosencephaly or cortical malformations may provide important clues for initiating phenotype-specific genetic testing. This article reviews more common forms of syndromic and non-syndromic forms of microcephaly, with associated neuroradiological findings such as periventricular nodular heterotopia, lissencephaly, double cortex, holoprosencephaly, pontocerebellar hypoplasia and agenesis of the corpus callosum, and suggest algorithms for diagnostic workup.
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