Hipotonično dojenče

master's thesis

• Title (english): Floppy infant
• Author: Doria Podvorec
• Mentor: Danijela Petković Ramadža (mentor)
• Committee member: Nina Barišić (predsjednik povjerenstva)
• Committee member: Marija Jelušić (član povjerenstva)
• Committee member: Danijela Petković Ramadža (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

Sindrom hipotoničnog dojenčeta je važan pojam u pedijatriji. Obilježen je hipotonijom novorođenčeta ili dojenčeta koja je definirana niskim tonusom mišića trupa, udova, ili kraniofacijalnih poprečno-prugastih mišića. Hipotoniju dojenčeta dijelimo na centralnu, perifernu ili miješanu (s obilježnjima centralne i periferne hipotonije). Centralna hipotonija uzrokovana je poremećajima gornjeg motoneurona, periferna donjeg, a miješana poremećajem gornjeg i donjeg motoneurona. Hipotonično dojenče zahtjeva mutidisciplinarni pristup te detaljnu kliničku i dijagnostičku obradu. Obrada se sastoji od prikupljanja anamnestičkih podataka koji uključuju prenatalnu i perinatalnu, osobnu i obiteljsku anamnezu, neurološkog pregleda i procijene psihomotoričkog razvoja, laboratorijskih i slikovnih pretraga. Diferencijalna dijagnoza bolesti i stanja koji se očituju sindromom hipotoničnog dojenčeta vrlo je široka. Hipotonija može biti posljedica akutnih i stečenih bolesti poput sepse, ostalih infektivnih bolesti, poremećaja elektrolita i hipoglikemije, ili može biti obilježje neke od brojnih nasljednih bolesti koje se očituju sindromom hipotoničnog dojenčeta. Vrlo je važno na vrijeme postaviti točnu dijagnozu jer su neke bolesti koje se očituju hipotonijom zahvaljujući napretku medicine danas liječive (poput Pompeove bolesti, spinalne mišićne atrofije i manjka dekarboksilaze aromatskih aminokiselina). Pacijentima s bolestima i sindromima koje (za sada) nije moguće etiološki liječiti treba osigurati simptomatsku i potpornu terapiju (poput fizikalne i radne terapije) koja također ima značajan utjecaj na dugoročni ishod.

Abstract (english)

Floppy infant syndrome is an important entity in pediatrics. It is characterized by hypotonia in the newborn or infant, defined as a low muscle tone of trunk, limb or craniofacial muscles. Hypotonia classifies as central (caused by disorders of upper motoneuron), peripheral (caused by disorders of lower motoneuron), or mixed (caused by disorders of both upper and lower motoneurons). Floppy infant should have a multidisciplinary approach and adequate clinical evaluation. Clinical evaluation should include detailed family history, information on pregnancy and delivery, medical history, and thorough neurological and developmental evaluation, laboratory tests, imaging, and in some cases neurophysiological studies or muscle biopsy. Differential diagnosis of floppy infant is broad. It can be caused by acute diseases such as sepsis and other infections, electrolyte imbalance and hypoglycemia, or by wide range of congenital and inherited diseases. It is important to determine the right diagnosis because many of disorders and diseases that cause hypotonia in infants (such as Pompe disease, spinal muscular atrophy or aromatic amino acid decarboxylase deficiency) are nowadays treatable by gene therapy or enzyme replacement therapy. Diseases that cause floppy infant syndrome unamenable to etiological treatment may be managed by symptomatic and supportive treatment (such as physical and occupational therapy) which also have an important impact on patient outcome.

• Keywords: hipotonično dojenče; centralna hipotonija; periferna hipotonija; diferencijalna dijagnoza; liječenje
• Keywords (english): floppy infant; central hypotonia; peripheral hypotonia; differential diagnosis; treatment
• Language: croatian
• URN:NBN: urn:nbn:hr:105:208452
• 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: 2022-04-08 10:29:06