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Published on: September 4, 2017
[Miller-Dieker syndrome: a new case with cerebral echographic study]
J Vaquerizo-Madrid1, H Gómez-Martín, P Rincón-Rodera
1Departamento de Pediatría, Hospital Materno Infantil, Complejo Hospitalario Infanta Cristina, Badajoz, España.
Introduction:
Miller-Dieker syndrome is characterized for type 1 lissencephaly associated with facial dysmorphism. In 90-95% of the cases, deletion of the distal fragment of chromosome 17 is seen. Nevertheless, this is difficult to confirm in about 50% of the cases, if we don't resort to special technics of molecular genetics.
Clinical Case:
We show a 3 years old patient diagnosed of lissencephaly and with peculiar facial features in whom the cytogenetic study was normal, but by in situ hybridization deletion of 17p13.3 fragment was showed.
Conclusion:
We want to emphasize the ultrasonography findings and we want to suggest this easy imaging method and useful technic in the study of neuronal migrational disorders.
