Vaquerizo-Madrid J, Gómez-Martín H, Rincón-Rodera P, Alonso-Luengo O
Departamento de Pediatría, Hospital Materno Infantil, Complejo Hospitalario Infanta Cristina, Badajoz, España.
Rev Neurol. 2000;30(1):48-50.
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.
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.
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.
