Abstract
A national surveillance study in conjunction with the British Paediatric Neurology Unit was undertaken to further define the clinical, pathological and molecular genetic features of migrating partial seizures of infancy (MPSI), a rare early infantile epileptic encephalopathy with poor prognosis.
Highlights
Investigators from VU Medical Centre, Amsterdam, The Netherlands, identified seven patients with severe encephalopathy who shared a previously undescribed MRI pattern with cystic degeneration of the white matter and progressive cerebral, cerebellar and brainstem atrophy
Pathology of brain tissue demonstrates cerebral atrophy and lesions similar to Leigh’s syndrome. This new, severe, lethal phenotype broadens the phenotypic spectrum of SLC19A3 mutations and is recognized by the associated MRI pattern of brain degeneration
MRI pattern of initial swelling with T-hyperintensities followed by rapid degeneration and brain atrophy allows early diagnosis of a rapidly progressive infantile encephalopathy caused by SLC19A3 mutations
Summary
Investigators from VU Medical Centre, Amsterdam, The Netherlands, identified seven patients with severe encephalopathy who shared a previously undescribed MRI pattern with cystic degeneration of the white matter and progressive cerebral, cerebellar and brainstem atrophy. Whole-exome sequencing revealed pathogenic, heterozygous missense mutations in the SLC19A3 gene, encoding the second thiamine transporter. This new, severe, lethal phenotype broadens the phenotypic spectrum of SLC19A3 mutations and is recognized by the associated MRI pattern of brain degeneration.
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