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
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Labels
Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2017 Issue 6
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