REVIEW ARTICLE eng slo element en article-lang 10.6016/ZdravVestn.2914 doi 6.1.2019 date-received Diagnostic approach in an infant with spinal 30.3.2019 date-accepted dysraphism Human reproduction Reprodukcija človeka discipline Review article Pregledni znanstveni članek article-type Slovenian Diagnostični pristop pri dojenčku s spinalnim disrafizmom Diagnostic approach in an infant with spinal Diagnostični pristop pri dojenčku s spinalnim article-title Medical dysraphism disrafizmom Journal Nataša Šuštar,1 Darja Paro Panjan,2 Damjana Ključevšek,3 David Neubauer,1 Peter Diagnostic approach in an infant with spinal Diagnostični pristop pri dojenčku s spinalnim alt-title Spazzapan,4 Aneta Soltirovska Šalamon2 dysraphism disrafizmom occult dysraphisms, skin dimples, imaging okultni disrafizmi, kožne jamice, slikovne metode, kwd-group techniques, diagnostic algorithm diagnostični algoritem The authors declare that there are no conflicts Avtorji so izjavili, da ne obstajajo nobeni conflict of interest present. konkurenčni interesi. Abstract year volume first month last month first page last page 1 Department of Spinal dysraphisms are congenital malformations of the spinal cord and spine that occur due to Child, Adolescent and 2019 88 11 12 539 553 impaired closure of the neural tube in early embryogenesis. According to the skin coverage, they Developmental Neurology, are divided into open and closed types. While open dysraphisms can be identified by prenatal Division of Paediatrics, investigations, the diagnosis of a closed (occult) dysraphic state is more difficult to establish. name surname aff email University Medical Centre There are specific skin signs over the spine in more than half of these patients, which can help Ljubljana, Ljubljana, Aneta Soltirovska Šalamon 1 [email protected] Slovenia with early diagnosis. Ultrasonography of the spine and spinal cord is the method of choice in the 2 Neonatal Unit, Division diagnostics of occult spinal dysraphism in the first months of life, until the spine is closed. The name surname aff of Paediatrics, University most sensitive diagnostic tool is magnetic resonance imaging, which also represents the gold Nataša Šuštar 1 Medical Centre Ljubljana, standard of preoperative diagnostics. Early diagnosis is important in asymptomatic conditions, Ljubljana, Slovenia as this allows timely surgical treatment of children, who are at greater risk of sudden onset of Darja Paro Panjan 2 3 Unit of Radiology, Division complications or neurological sequelae. In the article, we summarised clinical and radiological of Paediatrics, University Damjana Ključevšek 3 characteristics of dysraphic conditions and formed a diagnostic algorithm to unify an approach Medical Centre Ljubljana, in a child with spinal dysraphism in the first months of life. David Neubauer 1 Ljubljana, Slovenia 4 Department of Peter Spazzapan 4 Neurosurgery, Division of Izvleček Surgery, University Medical Spinalni disrafizmi so prirojene nepravilnosti hrbtenjače in spinalnega kanala, ki nastanejo zara- Centre Ljubljana, Ljubljana, di motenj zapiranja nevralne cevi v zgodnjem embrionalnem razvoju. Glede na kožno kritje jih eng slo aff-id Slovenia delimo na odprte in zaprte. Odprte disrafizme prepoznamo že s prenatalno diagnostiko, težja pa je prepoznava zaprtih (okultnih) stanj. Pri slednjih so nam pri diagnostiki v pomoč določeni Department of Child, Adolescent Klinični oddelek za otroško, 1 Correspondence/ kožni znaki nad hrbtenico, ki so prisotni pri več kot polovici bolnikov. Ultrazvočna preiskava spi- and Developmental Neurology, mladostniško in razvojno Korespondenca: nalnega kanala je v prvih mesecih starosti, dokler hrbtenica ne zakosteni, metoda izbire v diag- Division of Paediatrics, nevrologijo, Pediatrična klinika, Aneta Soltirovska Šalamon, nostiki okultnih spinalnih disrafizmov. Sicer je najobčutljivejše diagnostično orodje magnetno University Medical Centre Univerzitetni klinični center e: [email protected] Ljubljana, Ljubljana, Slovenia Ljubljana, Ljubljana, Slovenija resonančno slikanje, ki predstavlja tudi zlati standard predoperativne diagnostike. Zgodnja pre- Key words: poznava je pomembna tudi v primerih asimptomatskih stanj, ker s tem omogočimo pravočasno Neonatal Unit, Division of Klinični oddelek za 2 occult dysraphisms; kirurško zdravljenje otrok, pri katerih obstaja večje tveganje za nastanek nenadnih zapletov ali Paediatrics, University Medical neonatologijo, Pediatrična skin dimples; imaging nepovratnih nevroloških posledic. V članku smo povzeli klinične in radiološke značilnosti posa- Centre Ljubljana, Ljubljana, klinika, Univerzitetni klinični techniques; diagnostic meznih disrafičnih stanj, ter oblikovali diagnostični algoritem, z namenom poenotenja zgodnje Slovenia center Ljubljana, Ljubljana, algorithm Slovenija obravnave otrok s spinalnim disrafizmom. Ključne besede: Unit of Radiology, Division of Služba za radiologijo, Pediatrična 3 Cite as/Citirajte kot: Šuštar N, Paro Panjan D, Ključevšek D, Neubauer D, Spazzapan P, Soltirovska Šalamon okultni disrafizmi; Paediatrics, University Medical klinika, Univerzitetni klinični A. Diagnostic approach in an infant with spinal dysraphism. Zdrav Vestn. 2019;88(11–12):539–53. Centre Ljubljana, Ljubljana, center Ljubljana, Ljubljana, kožne jamice; slikovne Slovenia Slovenija metode; diagnostični algoritembesede DOI: https://doi.org/10.6016/ZdravVestn.2914 Department of Neurosurgery, Klinični oddelek za 4 Division of Surgery, University nevrokirurgijo, Kirurška klinika, Received: 6. 1. 2019 Medical Centre Ljubljana, Univerzitetni klinični center Accepted: 30. 3. 2019 Copyright (c) 2019 Slovenian Medical Journal. This work is licensed under a Ljubljana, Slovenia Ljubljana, Ljubljana, Slovenija Creative Commons Attribution-NonCommercial 4.0 International License. Diagnostic approach in an infant with spinal dysraphism 539 HUMAN REPRODUCTION 1 Introduction Spinal dysraphisms (SD) are a hetero- severity of the neurological impairment, geneous group of congenital abnormal- and the time that elapses from the the clin- ities of the spinal cord and spine. They ical picture until the surgery (6,14,15). are among the most common malforma- tions and occur in 1-2/1000 live births (1). 2 Embryonic development They occur due to improper closure and of the spinal cord and formation of the neural tube in early em- bryogenesis, due to the activity of certain classification of SD environmental factors or genetic changes (1,2). Among the best known risk factors The development of the spinal cord for SD are genetic predisposition, mater- takes place from the 2nd to the 6th week of nal diabetes, taking certain antiepileptic gestation (GS) in three successive phases: drugs (valproate, carbamazepine), obesity, gastrulation, primary neurulation, and febrile condition in the first weeks of preg- secondary neurulation (2,10). nancy and folic acid deficiency in the diet Between the 2nd and 3rd week of GS, of pregnant women (3-6). The incidence during the process of gastrulation, from has decreased in the last two decades due the bilayered embryonic disc, which con- to folic acid prophylaxis, pre-natal diag- sists of epiblast and hypoblast, a three-lay- nostics, and genetic counseling in familes er disc is formed, from which the ecto- with a high risk of SD (5,6). derm, mesoderm and endoderm develop. According to the skin coverage, SD are From the middle part of the mesoderm, a divided into open and closed SD. Open notochord is formed, which in connection SDs are identified by prenatal investi- with the ectodermal layer forms the neu- gations, and closed ones mostly at birth. roectoderm and the neural plate (2,10,16). The latter, also called occult spinal dysra- Primary neurulation, which occurs be- phisms (OSDs), can be clinically silent for tween the 3rd and 4th week of GS, is the a long time. It is estimated that 43–95% of process of the neural plate transforming these patients have certain skin signs over into the neural tube. On day 17, the lateral the spine that make it easier to suspect parts of the neural plate thicken. Cells at SD (7-13). 75% of closed SDs develop the the junction of neuroectoderm and cuta- tethered spinal cord syndrome, which can neous ectoderm differentiate into neural be expressed at any age and is character- crest cells. ized by a progressive course (14,15). The contractile filaments of the neu- In the first three months of life, until roepithelial cells of the neural plate border the bodies, arches, and the vertebral pro- transform the neural plate into a neural cesses are ossified, ultrasonography (US) groove along the neural axis by folding of the spine is the method of choice for the lateral parts. Between days 21 and 23, recognizing SD (1). In all cases, the final the neural groove merges in the midline to diagnosis is made by magnetic resonance form a neural tube. This is followed by dis- imaging (MRI), which is the most sensi- junction - the separation of the neural tube tive and specific imaging method in diag- from the ectoderm, which runs along the nosing SD (2). It is important to identify surface. The cranial part (anterior neuro- asymptomatic conditions at an early stage pore) closes on the 25th day, and the cau- and thus enable timely surgical treatment dal end (posterior neuropore - S2 level) of children, who are at greater risk of sud- between the 27th and 28th day. den onset of complications or neurological A closed neural tube is the basis for the sequelae. The success of surgery in most development of the entire central