MARDEN-WALKER SYNDROME – A CASE REPORT
Autori:
Miroslav Dumić, Nataša Rojnić-Putarek, Snježana Škrablin-Kučić, Toni Matić, Jasenka Ille, Ana Radica
Sažetak
Sažetak. Marden-Walkerov sindrom (MIM # 248700) do sada je opisan u 36 bolesnika. Njegova etiologija nije jasna, no pretpostavlja se da se radi o poremećaju u razvoju središnjega živčanog sustava koji se nasljeđuje autosomno recesivno. Osnovni kriteriji za postavljanje dijagnoze uključuju tri glavna klinička znaka – blefarofimozu, kongenitalne kontrakture zglobova i bezizražajno lice, a u ovih se bolesnika može naći i niz drugih anomalija. Prikazujemo djevojčicu s kliničkim karakteristikama Marden-Walkerova sindroma koji do sada u nas nije opisan. Uz tri glavna znaka i niz drugih koji potvrđuju dijagnozu, naša bolesnica ima i vezikoureteralni refluks i umbilikalnu herniju, koji dosad nisu nađeni u ovih bolesnika.
Summary
Summary. Up to now 36 cases of Marden Walker syndrome (MIM # 248700) have been reported. The underlying pathological mechanism has not yet been clearly established, but it is assumed that it is a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner. Three main diagnostic criteria are blepharophimosis, congenital joint contractures and mask-like face, but numerous other anomalies have been described in these patients. We present a girl with clinical characteristics of Marden Walker syndrome, which has not yet been reported in our literature. Together with three major and many other clinical signs which confirm the diagnosis, our girl also has a vesicoureteral reflux and umbilical hernia, which have not yet been described in these patients.
