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Alobar Holoprosencephaly – A Case Report of Two Cases


Authors: V. Bartoš 1;  P. Slávik 2;  J. Kršiaková 3;  M. Fedor 4;  R. Szépeová 5;  P. Žúbor 6
Authors‘ workplace: Ústav patologickej anatómie Jesseniovej lekárskej fakulty a Martinskej fakultnej nemocnice, Martin vedúci prof. MUDr. L. Plank, CSc., prodekan 1,2;  Oddelenie genetiky Martinskej fakultnej nemocnice, Martin vedúca doc. MUDr. N. Mišovicová, CSc. 3;  Klinika detí a dorastu Jesseniovej lekárskej fakulty a Martinskej fakultnej nemocnice, Martin vedúci prof. MUDr. P. Bánovčin, CSc. 4,5;  Gynekologicko-pôrodnícka klinika Jesseniovej lekárskej fakulty a Martinskej fakultnej nemocnice, Martin vedúci prof. MUDr. J. Danko, CSc. 6
Published in: Čes-slov Pediat 2006; 61 (7-8): 428-433.
Category: Case Report

Overview

Holoprosencephaly is a congenital defect of the central nervous system characterized by an incomplete or absent division of the embryonic forebrain – prosencephalon into distinct lateral cerebral hemispheres. This malformation arises during early embryogenesis and is frequently associated with specific craniofacial abnormalities. Based on the cardinal morphologic features the malformation is categorized into 3 main types – alobar, semilobar, lobar form and a special subtype MIV (middle interhemispheric fusion variant).

The authors of the article present a case report of 2 children with alobar type of holoprosencephaly. They demonstrate a clinical course, examinations, complications and autopsy findings. Finally, they describe a classification, etiopathogenesis, morphology and clinical details of this malformation.

Key words:
alobar, semilobar, lobar holoprosencephaly, congenital CNS malformations


Labels
Neonatology Paediatrics General practitioner for children and adolescents
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