Myelomeningocele Associated with Deletion of 22q11 and Normal Posterior Fossa: Prenatal Diagnosis

*Ladan Younesi
Medicine, Shahid Akbar Abadi Clinical Research Development Unit , Iran University Of Medical Sciences, Tehran, Iran, Islamic Republic Of

*Corresponding Author:
Ladan Younesi
Medicine, Shahid Akbar Abadi Clinical Research Development Unit , Iran University Of Medical Sciences, Tehran, Iran, Islamic Republic Of
Email:younesi.l@iums.ac.ir

Published on: 2019-10-07

Abstract

Background: Spina Bifida Myelomeningocele is the most common nonlethal neural tube defect in North America, that is associated with some anomalous development of brain structure especially chiari-malformation, musculoskeletal system, renal system, and cardiovascular system. Genetic factors are infrequent causes of NTDs such as deletion of 22q11.

Case presentation: Prenatal ultrasonography of 29 week aged fetus with normal maternal serum alpha fetoprotein found polyhydramnios and abnormal cystic mass in lower spine recommended for myelomeningocele. Fetus MRI demonstrated terminal closed myelomeningocele and tethered cord, obliteration of cisterna magna without other cerebral anomalies such as Chiari II malformation. After birth the patient had respiratory distress with the same finding. More evaluation showed multiple cardiac abnormalities and deletion of 22q11 that is a rare cause of NTDs.

Conclusion: Identification of NTDs should be considered as a warning sign for other syndrome or disorder, and prompt a thorough etiologic investigation and genetic counseling.

Keywords

Neural tube defect; Myelomeningocele; Chiarimalformation; Deletion of 22q11

Introduction

Neural tube defects (NTDs) are structural defects secondary to abnormal neural tube closure that occurs during early fetal development. NTDs are divided into two major groups: (a) defects involving cranial structures, such as anencephaly and encephalocele; (b) defects at the level of the spinal cord (spina bifida) [1]. Spina Bifida Myelomeningocele (SBM) is the most common nonlethal neural tube defect (NTD) in North America, affecting three to five per 10,000 births per year [2]. The defect is characterized by protrusion of the spinal cord, meninges, and nerve roots through an opening in the spine.

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