Perinatal Neuroradiology by Fabio Triulzi Cristina Baldoli Cecilia Parazzini & Andrea Righini

Author:Fabio Triulzi, Cristina Baldoli, Cecilia Parazzini & Andrea Righini
Language: eng
Format: epub
Publisher: Springer Milan, Milano

PMG is reported also in association with tubulin disorders, in particular in the region of sylvian fissures (Fig. 4.20) [33].

Fig. 4.20Tubulinopathy. Fetal MR study at 30 GW (a–c) shows unilateral ventriculomegaly, dysmorphism of both sylvian fissures, corpus callosum hypoplasia, and dysmorphic basal ganglia. MR follow-up study at one year of age (d–f) confirmed all these aspects in association with doubtful cortical irregularities along the sylvian fissures compatible with the so-called “central pachygyria or polymicrogyria” reported in tubulin disorder. Tubulin mutation TUBA1A has been recognized

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