Authors: E. Seemanová Authors‘ workplace: Oddělení klinické genetiky, Ústav biologie a lékařské genetiky 2. LF UK, Praha vedoucí MUDr. M. Havlovicová Published in: Čes-slov Pediat 2004; (7): 361-363. Category:
Miller-Dieker syndrome is microdeletion syndrome due to hemizygote deletion of region 17p13.3 where arelocated more than 50 genes. Phenotype is clinically characterized by severe hypotonia, facial dysmorphy with highnasal bridge, prominent upper lip over micrognathia, bitemporal narrowing, dysplastic, low set and posteriorlyangulated auricles. Epileptic seazures, progressive spasticity with opisthotonus, failure to thrive, growth anddevelopmental retardation, cardial and renal anomalies lead to early death before age of 3 years. By autopsy isfound lissencephaly with massive neuronal heterotopies and large ventricular cavities of embryonic type, pachygyriaand a figure-eight appearence of brain due to wide opened Silvian fossa. Histologically is comfirmedincomplet development of brain like fetal architecture of 3 - 4 months gestation with heterotopias and a thickenedcortex with 4 rather than 6 layers.Article refers a case of 3-months old boy with Miller-Dicker syndrome due to new mutation in chromosomalstructure.
Key words: Miller-Dieker syndrome, microdeletion 17p13.3, lissencephaly, severe hypotonia, seazures, progressivespasticity, facial dysmorphy, failure to thrive, early death, etiology in new or inherited mutation
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