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Double encephalocele: A rare neural tube defect
Aditya P Singh1, Ajay Kumar2, Dinesh K Barolia3, Narayan Solanki4, Harsha V Bathia5
1 Department of Pediatric Surgery, Bhagwan Mahavir Hospital, Sumerpur, Pali, India
2 Department of Paediatric Surgery, JK Lon Hospital, SMS Medical College, Jaipur, India
3 Department of Pediatric Surgery, SMS Medical College, Jaipur, India
4 Department of Radiology, Bhagwan Mahavir Hospital, Sumerpur, Pali, India
5 Department of Anaesthesia, Bhagwan Mahavir Hospital, Sumerpur, Pali, Rajasthan, India
| Date of Submission | 21-May-2021 |
| Date of Decision | 03-Feb-2022 |
| Date of Acceptance | 12-Mar-2022 |
| Date of Web Publication | 30-Jan-2023 |
Correspondence Address:
Ajay Kumar,
Department of Paediatric Surgery, JK Lon Hospital, SMS Medical College, Jaipur, Rajasthan 302004
India
 Source of Support: None, Conflict of Interest: None DOI: 10.4103/jpn.JPN_116_21
 Abstract | | |
Neural tube defects are common pediatric surgical conditions. Among them, encephalocele represents the protrusion of the brain component through the cranial defect. Double encephalocele is a rare entity, with only five cases reported in literature. We report a case of congenital double encephalocele with review of literature.
Keywords: Congenital, encephalocele, hydrocephalus
| Introduction | |  |
Neural tube defects (NTDs) are one of the common neonatal surgical emergencies. The incidence ranges from 1 to 3 per 1000 live births worldwide.[1] The etiology is believed to be multifactorial including both genetic and environmental factors.[1],[2],[3] Embryologically, they are believed to result from stagnation or variation in primary or secondary neurulation.[4] Defects can be open or closed, depending on exposure of neuronal tissue to external environment. Multiple NTDs in a single patient is a rare occurrence.[5]
| Case Report | | |
An unbooked term female neonate from non-consanguineous marriage with institutional normal vaginal delivery presented with two separate swellings over scalp since birth. There was no history of fever, abnormal body movements, cerebrospinal fluid (CSF) leak, or skin ulcerations. On examination, the both swellings were in midline, soft, cystic, and trans-illuminant with thinning of the overlying skin. The patient was operated in prone position under general anesthesia for double encephalocele. Two separate small bony defects were observed with sac containing CSF only. She developed hydrocephalus during follow-up, for which ventriculo-peritoneal shunt was put [Figure 1] and [Figure 2].
| Discussion | | |
NTDs, including spina bifida and anencephaly, are severe birth defects of the central nervous system that originate during embryonic development when the neural tube fails to close completely.[4] The most accepted theory among many is the incomplete separation of the surface ectoderm from the neuroectoderm at the closure of the neural folds.[6] Genetic and environmental factors have been implicated too in the development of an encephalocele.[7] Multiple genetic mutations affecting Hedgehog signaling, either directly or via cilial function, disturbs neural tube closure, specially those which activate signaling in the Shh pathway.[3] TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus) have been associated in many cases.[7] Consanguineous marriages and previous NTD pregnancies have also been implicated.[7] More than 30 different syndromes have been associated with an encephalocele, including Meckel–Gruber syndrome, Walker–Warburg syndrome, Fraser syndrome, Knobloch syndrome, Roberts syndrome, morning glory syndrome, and amniotic band syndrome.
Patients with NTDs account for a major burden among all congenital disorders with delayed sequelae following treatment. A wide spectrum of NTDs has been described.[8] Encephalocele is characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. It occurs in fetal life where the ectodermal cells that form the skull do not come together to close over the brain. This leads to protrusion of the brain tissue and meninges through bony defect. Encephalocele may be present anywhere in the head but most commonly located in the midline occipital region (75%), followed by frontoethmoidal (13–15%), parietal (10–12%), or sphenoidal.[9]
The occurrence of multiple NTDs in a single patient is extremely rare [Table 1].[5],[10] Controversy exists in the exact mechanism of development of multiple NTDs. Srinivas et al.[11] emphasized on multisite neural tube closure model with the existence of five separate closure points, or “zippers” indicating the existence of additional neuropores, which are the most frequent sites for the defect. Singh et al.[10] did an exhaustive search of the existing theories but all were unable to explain the embryological genesis of two adjacent meningoceles.[12] Early surgery as for other encephaloceles and meningomyeloceles is associated with better appearance, easier nursing care, lower rates of trauma and ulceration, and prevention of neurological impairments.[5] The decision to preserve venous structure present in the sac, and whether or not to excise the herniated brain within encephalocele, is important for post-operative outcomes. Combining intra-operative observations with pre-operative magnetic resonance imaging results in better outcomes.[13] If hydrocephalus is associated, prior ventriculo-peritoneal shunt should be placed to prevent post-operative complications.[9][14]
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Rad IA, Farrokh-Islamlou HR, Khoshkalam M Neural tube defects prevalence in a hospital-based study in Urmia. Iran J Child Neurol 2008;2:19-23.  |
| 2. | Khattak ST, Khan M, Naheed T, Khattak IU, Ismail M Prevalence and management of anencephaly at Saidu Teaching Hospital, Swat. J Ayub Med Coll 2009;22:61-3. |
| 3. | Murdoch JN, Copp AJ The relationship between sonic hedgehog signaling, cilia, and neural tube defects. Birth Defects Res A Clin Mol Teratol 2010;88:633-52. |
| 4. | Greene NDE, Copp AJ Neural tube defects. Annu Rev Neurosci 2014;37:221-42. |
| 5. | Yhoshu E, Dash V, Bawa M Double encephalocele: An unusual presentation. J Pediatr Neurosci 2018;13:264-6. |
| 6. | Matos Cruz AJ, De Jesus O Encephalocele. [Updated September 13, 2021]. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2021. |
| 7. | Tirumandas M, Sharma A, Gbenimacho I, Shoja MM, Tubbs RS, Oakes WJ, et al. Nasal encephaloceles: A review of etiology, pathophysiology, clinical presentations, diagnosis, treatment, and complications. Childs Nerv Syst 2013;29:739-44. |
| 8. | Ghosh S, Singh MS, Kumar G Neural tube defects—Demography in a tertiary care center. IOSR J Dent Med Sci 2016;15:80-2. |
| 9. | Barolia DK, Mehra S, Chaturvedi V, Tuteja N, Ghosh S, Prasad R Frontal encephalocele—A rare case report with review of literature. Sch J Med Case Rep 2021;4:96-100. |
| 10. | Tungaria A, Srivastav AK, Mahapatra AK, Kumar R Multiple neural tube defects in the same patient with no neurological deficit. J Pediatr Neurosci 2010;5:52-4. |
| 11. | Srinivas D, Sharma BS, Mahapatra AK Triple neural tube defect and the multisite closure theory for neural tube defects: Is there an additional site? Case report. J Neurosurg Pediatr 2008;1:160-3. |
| 12. | Singh DK, Singh N, Kumar P Double suboccipital meningoencephalocele: A unique case report. Pediatr Neurosurg 2012;48:331-2. |
| 13. | Ramdurg SR, Gubbi S, Odugoudar A, Kadeli V A rare case of split pons with double encephalocele, dermal sinus tract, and lipomeningomyelocele: A case report and review of literature. Childs Nerv Syst 2014;30:173-6. |
| 14. | Canaz H, Ayçiçek E, Akçetin MA, Akdemir O, Alataş I, Özdemir B Supra- and infra-torcular double occipital encephalocele. Neurocirugia (Astur) 2015;26:43-7. |
[Figure 1], [Figure 2]
[Table 1]
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