Kanwal Laique, Syed Shariq Ullah, Ravi Kumar



Central nervous system malformations are frequently encountered anomalies owing to derangements in the neurulation process of spinal in the embryonic period. These are broadly categorized into 1) open spinal dysraphism and 2) closed spinal dysraphism, based on skin/sub cutaneous tissues coverage. Masquerading diseases may present with similar clinical presentation.  Neuro-imaging plays an essential role in differentiating between neural tube defects and mimicking disease hence facilitate appropriate diagnosis and pre-surgical planning.



To assess the frequency of congenital central nervous system (CNS) malformations and masquerading diseases in the pediatric patients presenting with congenital posterior midline lumps at the head, neck and back using MRI brain and spine in the Diagnostic Radiology department of the National institute of child health.


Design: This is a descriptive, retrospective cross-sectional analysis.

Setting: Radiology department of National Institute of Child Health (NICH).

 Electronic data from November 2021 to October 2022 of MRI brain and spine of pediatric patients below 15 years presented with congenital posterior midline lumps were collected and analyzed on SPSS version 26.


Total 201 pediatric patients were evaluated. There was a balanced gender distribution between male 91(45%) and female 110(54.7%). The most common presenting complaint was congenital lumbar posterior midline lump. Myelomeningocele was the most common diagnosis (61.2%) followed by Lipomyelocele and lipomyelomeningocoele (4%). Notably, the most common association was found to be hydrocephalus (38.8%), syrinx (23.9%) and tethered cord (20.9%). Most prevalent masquerading disease was sacrococcygeal teratoma then macrocystic lymphatic malformation. Soft tissue hemangioma, hematoma and neurogenic tumor were also found in few patients.


This study emphasizes the significance of neuroimaging detection of not only spinal dysraphism but other masquerading diseases as well. Early recognition of key imaging features of such malformations and mimicking diseases facilitates appropriate intervention hence plays a crucial role for therapeutic strategy and clinical outcome. 


Keywords: Frequency, CNS malformations, neuroimaging and spinal dysraphism.                       


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Dick EA, Patel K, Owens CM, De Bruyn R. Spinal ultrasound in infants. The British Journal of Radiology. 2002 Apr;75(892):384-92.

Harwood-Nash DC, McHugh K. Diastematomyelia in 172 children: the impact of modern neuroradiology. Pediatric neurosurgery. 1990 Mar 5;16(4-5):247-51.

Venkataramana N K. Spinal dysraphism. J Pediatr Neurosci 2011;6, Suppl S1:31-40

Valente I, Pedicelli A, Piacentini M, Di Serafino M, Vallone G, Speca S, Colosimo C. Spinal cord ultrasonography of the newborn. Journal of Ultrasound. 2019 Jun 1;22:113-9.

Reghunath A, Ghasi RG, Aggarwal A. Unveiling the tale of the tail: an illustration of spinal dysraphisms. Neurosurgical review. 2021 Feb;44(1):97-114.

Balani A, Chatur C, Biswas A, Oztekin O, Mankad K. Spinal dysraphisms: highlighting discrepancies in the current literature and emphasizing on the need for a consensus. Quantitative Imaging in Medicine and Surgery. 2020 Mar;10(3):549.

Totonelli G, Messina R, Morini F, Mosiello G, Iacusso C, Randi F, Palma P, Bagolan P, Iacobelli BD. Impact of the associated anorectal malformation on the outcome of spinal dysraphism after untethering surgery. Pediatric Surgery International. 2019 Feb 5;35:227-31.

Ausili E, Maresca G, Massimi L, Morgante L, Romagnoli C, Rendeli C. Occult spinal dysraphisms in newborns with skin markers: role of ultrasonography and magnetic resonance imaging. Child's Nervous System. 2018 Feb;34:285-91.

Blom HJ. Folic acid, methylation and neural tube closure in humans. Birth Defects Research Part A: Clinical and Molecular Teratology. 2009 Apr;85(4):295-302.

Centers for Disease Control and Prevention (CDC. Racial/ethnic differences in the birth prevalence of spina bifida-United States, 1995-2005. MMWR. Morbidity and mortality weekly report. 2009 Jan 9;57(53):1409-13.

Dias MS. Neurosurgical management of myelomeningocele (spina bifida). Pediatrics in review. 2005 Feb 1;26(2):50-60.

Pang D, Dias MS. Cervical myelomeningoceles. Neurosurgery. 1993 Sep 1;33(3):363-73.

Dhingani DD, Boruah DK, Dutta HK, Gogoi RK. Ultrasonography and magnetic resonance imaging evaluation of pediatric spinal anomalies. Journal of pediatric neurosciences. 2016 Jul;11(3):206.

Ruangtrakool R, Kowuttikulrangsee P, Pengvanich P, Phonwijit L. Prevalence and Association of Occult Spinal Dysraphism with Anorectal Malformation. Journal of the Medical Association of Thailand. 2021 Jan 1;104(1).

Shields LB, Mutchnick IS, Daniels MW, Peppas DS, Rosenberg E. Risk of occult spinal dysraphism based on lumbosacral cutaneous manifestations. SAGE Open Medicine. 2021 Aug;9:20503121211037172.

Hussein NA, Ahmed KA, Osman NM, Yacoub GE. Role of ultrasonography in screening of spinal dysraphism in infants at risk. Egyptian Journal of Radiology and Nuclear Medicine. 2022 Feb 15;53(1):46.

Mehta DV. Magnetic resonance imaging in paediatric spinal dysraphism with comparative usefulness of various magnetic resonance sequences. Journal of Clinical and Diagnostic Research: JCDR. 2017 Aug;11(8):TC17.

Chellathurai A, Kathirvelu G, Mukkada PJ, Rajendran K, Ramani R. Spinal dysraphisms: a new anatomical–clinicoradiological classification. Indian Journal of Radiology and Imaging. 2021 Oct;31(04):809-29.

Kumar J, Afsal M, Garg A. Imaging spectrum of spinal dysraphism on magnetic resonance: A pictorial review. World journal of radiology. 2017 Apr 4;9(4):178.

Trapp B, de Andrade Lourenção Freddi T, de Oliveira Morais Hans M, Fonseca Teixeira Lemos Calixto I, Fujino E, Alves Rojas LC, Burlin S, Cerqueira Costa DM, Carrete Junior H, Abdala N, Tobaru Tibana LA. A practical approach to diagnosis of spinal dysraphism. Radiographics. 2021 Mar;41(2):559-75.

AMIR S, KHAN MN, KHAN I, AFRIDI A, AMAN A. Pattern of Presentation of Spinal Dysraphism: A Study of 72 Patients in Hayatabad Medical Complex Peshawar, Pakistan. Pakistan Journal Of Neurological Surgery. 2020 Oct 1;24(3):277-82.

Esposito G, Totonelli G, Morini F, Contini G, Palma P, Mosiello G, Longo D, Schingo PM, Marras CE, Bagolan P, Iacobelli BD. Predictive value of spinal bone anomalies for spinal cord abnormalities in patients with anorectal malformations. Journal of Pediatric Surgery. 2021 Oct 1;56(10):1803-10.

Yu JA, Sohaey R, Kennedy AM, Selden NR. Terminal myelocystocele and sacrococcygeal teratoma: a comparison of fetal ultrasound presentation and perinatal risk. American journal of neuroradiology. 2007 Jun 1;28(6):1058-60.

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