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- W3203601045 abstract "<h3>Background</h3> During embryonic and fetal life, tubulin genes play an important role in the cortical cerebral development. Mutation in this genes results in tubulinopathies which manifest as microcephaly, developmental abnormalities in motor and cognitive aspect as well as early-onset epilepsy. To date there are several tubulin gene mutations described in literature namely, TUBA1A, TUBB2A, TUBA8, TUBB2B, TUBB3, TUBB5, TUBG1. <h3>Objectives</h3> To discuss clinical manifestations of children with tubulinopathy. <h3>Methods</h3> We discuss two toddlers who presented with microcephaly and global developmental delay. <h3>Results</h3> Patient A was delivered at term with a birth weight of 3220g. He was treated for neonatal sepsis after developing bouts of vomiting. He had delays in motor development, abnormal posturing with generalised upper motor neuron signs at 9 months of age which led to further work up. Initial blood investigations which comprised of a metabolic screen yielded normal results. MR neuroimaging found asymmetrical cortical malformation with central pachygyria and polymicrogyria-like cortical dysplasia, basal ganglia malformation and corpus callosum dysgenesis which was suggestive of tubulinopathy. Patient B was an asymmetrical SGA delivered late preterm at 36 weeks with a birth weight of 2.12kg. He had presented with global developmental delay predominantly gross motor component with hypertonia. An MRI brain done at age 15 months showed bilateral peri-sylvian polymicrogyria, asymmetry basal ganglia, thalamus and midbrain with abnormal basal ganglia and corpus callosum dysgenesis. Patient B presented again at age 3 years and was diagnosed with spastic diplegic cerebral palsy <h3>Conclusions</h3> This case series report highlights the importance of neuroimaging as part of an assessment for children who otherwise have unexplained non-progressive motor impairment. Tubulinopathy should be considered as a possible diagnosis for children with unexplained motor impairment. Specific genetic testing should be performed for confirmation." @default.
- W3203601045 created "2021-10-11" @default.
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- W3203601045 date "2021-09-30" @default.
- W3203601045 modified "2023-09-27" @default.
- W3203601045 title "1713 Case series: the role of neuroimaging in identifying tubulinopathy in unexplained motor impairment" @default.
- W3203601045 doi "https://doi.org/10.1136/archdischild-2021-rcpch.810" @default.
- W3203601045 hasPublicationYear "2021" @default.
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