#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Holoprosencephaly – case report


Authors: A. Nogolová 1;  N. Filáková 1;  J. Všetička 2
Authors‘ workplace: Oddělení dětského lékařství, Městská nemocnice Ostrava, p. o. 1;  Genetika Ostrava s. r. o. 2
Published in: Čes-slov Pediat 2017; 72 (6): 345-350.
Category: Case Report

Overview

Congenital malformations of the central nervous system include a wide spectrum of anomalies which occur during the ontogenesis of the brain and spinal cord. The etiology is extremely heterogeneous, can be genetic or teratogenic. Sixty percent of the etiology is unknown. They occur in approximately 0.5–0.7 percent of infant, they are a common cause of death in the fetus. They contribute to high morbidity and mortality of infants postnatally, they are a common cause of psychomotor retardation, sensory impairments, epilepsy etc.. Clinical manifestation are dependent on the type and extent of the defect. The therapy is mainly symptomatic. Prenatal diagnosis is possible, helpful is sonography, MRI. The important is genetic care and interdisciplinary collaboration.

KEY WORDS:
malformation of the central nervous system, holoprosencephaly, hypernatremia


Sources

1. Seidl Z, Vaněčková M. Diagnostická radiologie – neuroradiologie. 1. vyd. Praha: Grada, 2007: 57–59, 66–68. ISBN 978-80-247-1106-5.

2. Menkes JH, Sarnat HB, Maria BL. Dětská neurologie, 1. díl. 7. vyd. Praha: Triton, 2011: 414–417, 455–461. ISBN 978-80-7387-341-7.

3. Hadač J. Ultrazvukové vyšetření mozku přes velkou fontanelu. 1. vyd. Praha: Triton 2000: 45–50. ISBN 80-7254-110-2.

4. Paulussen A, Schrander-Stumpel CT, Tserpelis DCJ, et al. The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. Europ J Hum Genet 2010; 18: 999–1005.

5. Wiedemann HR, Kunze KJ. Atlas klinických syndromů pro kliniku a praxi. 1. české vyd. Martin: Osveta, 1996: 48–49. ISBN 80-217-0517-5.

6. Savastano CP, El-JAick KB, Costa-Lima MM, et al. Molecular analysis of holoprosencephaly in South America. Genet Mol Biol 2014 Mar; 37 (1 Suppl): 250–262.

7. Solomon BD, Lacbawan F, Mercier S, et al. Mutations in ZIC2 in human prosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet 2010; 47 (8): 513–524.

8. Lebl J, Al Taji E, Koloušková S, a kol. Malý atlas dětské endokrinologie. 1. vyd. Praha: Galén, 2013: 9–11. ISBN 978-80-7492-065-3.

9. Kovács L, Jankó V, Nagyová G, Dallos T. Adipsický diabetes insipidus u pacienta s dysgenézou corpus callosum. Čes-slov Pediat 2014; 69 (1): 12–20.

10. Lebl J, Dušátková P, Malíková J, Obermannová B. Má genetické vyšetření u dětí s nedostatkem růstového hormonu klinický význam? Pediatr praxi 2013; 14 (6): 376–378.

Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#