Rascjep neuralne cijevi u novorođenčadi

master's thesis

• Title (english): Congenital anomalies of the spinal cord
• Author: Lea Huić
• Mentor: Dorotea Ninković (mentor)
• Committee member: Boris Filipović-Grčić (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Dorotea Ninković (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Pediatrics); Zagreb
• Defense date and country: 2021-07-16, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Pediatrics

Abstract

Rascjepi neuralne cijevi su prirođene anomalije središnjeg živčanog sustava i kralježničke moždine. Pogađaju jednu od tisuću trudnoća, ali postoje brojne varijacije u prevalenciji s obzirom na geografsko područje. Rascjepi neuralne cijevi su multifaktorijalne bolesti te na njihov nastanak značajno utječu genetski i okolišni čimbenici. Za pravovremeno postavljanje dijagnoze ključnu ulogu ima prenatalno mjerenje alfa fetoproteina i acetilkolinesteraze te ultrazvuk. Najpoznatija podjela je na otvorene i zatvorene oblike te se klinička slika i prognoza razlikuju ovisno o tipu rascjepa. Među najčešće oblike spada anencefalija, koja je letalan oblik te mijelomeningokela. Mijelomeningokela se najčešće prezentira masom u lumbalnom dijelu kralježnice te su često uz ovaj oblik povezane brojne komplikacije raznih organskih sustava. Encefalokele su također česte te njih klasificiramo po anatomskoj lokalizaciji na tri glavne skupine: sincipitalne, bazalne i okcipitalne. Kraniorahishiza i iniencefalija su rijetki i letalni defekti. Postoje još i brojni zatvoreni oblici rascjepa neuralne cijevi čiju je dijagnozu teže postaviti. Pacijenti s rascjepom neuralne cijevi često imaju i hidrocefalus te je potrebno postavljanje ventrikulo-peritonealne drenaže. Liječenje je najčešće kirurško. Ono može biti prenatalno (fetalna kirurgija) i postnatalno. Fetalna kirurgija provodi se jedino u posebno specijaliziranim centrima. Bitno je naglasiti da se nastanak ovih anomalija može u većoj mjeri spriječiti te da je za prevenciju ključna folna kiselina. Pacijente s ovim anomalijama bitno je kontinuirano pratiti zbog pravovremenog prepoznavanja mogućih komplikacija poput različitih neuroloških komplikacija, problema s hodanjem, urinarne i fekalne inkontinencije te brojnih ortopedskih komplikacija.

Abstract (english)

Neural tube defects are congenital anomalies of the central nervous system and the spinal cord. They affect one in a thousand pregnancies, but there are numerous variations in prevalence depending on the geographic area. This is a multifactorial disease and its occurrence is significantly influenced by genetic and environmental factors. Prenatal measurement of alpha fetoprotein and acetylcholinesterase as well as ultrasound play a key role in the timely diagnosis.
Neural tube defects are divided to open and closed forms, and the clinical picture and prognosis differ depending on the form of the defect. The most common forms include anencephaly, which is a lethal form, and myelomeningocele. Myelomeningoceles are most often presented with a mass in the lumbar spine and many complications of various organ systems are often associated with this form. Encephaloceles are also common and they are classified by anatomical localization into three main groups: syncipital, basal and occipital. Craniorahishis and iniencephaly are rare and lethal defects, and there are also a number of closed forms of RNC that are more difficult to diagnose. Patients with neural tube defects often have hydrocephalus and a ventriculo-peritoneal shunt is required. Treatment is most often surgical, either performed prenatally (fetal surgery) or postnatally. Fetal surgery is performed only in specialized centers. It is important to emphasize that most of these anomalies can be prevented and that folic acid is crucial for prevention. It is important to continuously monitor patients with these anomalies in order to identify in time possible complications such as various neurological complications, walking problems, urinary and fecal incontinence, and numerous orthopedic complications.

• Keywords: rascjep neuralne cijevi; meningomijelokela; folna kiselina
• Keywords (english): neural tube defect; myelomeningocele; folic acid
• Language: croatian
• URN:NBN: urn:nbn:hr:105:719237
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-02-09 11:47:29