|Year : 2016 | Volume
| Issue : 3 | Page : 164-166
Lethal Consequences in an Infant with Myelomeningocele Following an Inadvertent Treatment
Xuemei Wu, Libing Yun, Min Liu, Xufu Yi
Department of Forensic Pathology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, Sichuan, China
|Date of Web Publication||30-Sep-2016|
No. 16, Section 3, Renmin Nan Road, Chengdu 610041, Sichuan
Source of Support: None, Conflict of Interest: None
Myelomeningocele (MMC) is a protrusion of spinal cord contents and meninges through a vertebral defect. Iatrogenic deaths of patients with MMC are rarely encountered in forensic practice. In our case, a 3-month-old female was born with a lumbosacral cyst, the size of which had been increasing gradually over age. There was no neurological, orthopedic, or urologic dysfunction. On the day of her death, she received a repetitive and rapid lumbosacral cyst puncture drainage procedure, performed by an illegal medical practitioner. Postmortem autopsy findings confirmed a diagnosis of MMC and the cause of death to be cerebellar tonsillar herniation. This is a pathetic case of preventable infant death. This report suggests that the possibility of MMC should be considered in infants born with a lumbosacral cyst, and aspiration is inadvisable. Besides, forensic autopsy has a valuable role in determining the exact cause of death, identifying, or excluding iatrogenic factors that may be relevant to death following a medical procedure. A final point is that prevention programs should be developed, especially by the health care sectors to reduce such tragedy.
Keywords: Autopsy, cerebellar tonsillar herniation, iatrogenic death, inadvertent treatment, myelomeningocele
|How to cite this article:|
Wu X, Yun L, Liu M, Yi X. Lethal Consequences in an Infant with Myelomeningocele Following an Inadvertent Treatment. J Forensic Sci Med 2016;2:164-6
|How to cite this URL:|
Wu X, Yun L, Liu M, Yi X. Lethal Consequences in an Infant with Myelomeningocele Following an Inadvertent Treatment. J Forensic Sci Med [serial online] 2016 [cited 2020 Feb 18];2:164-6. Available from: http://www.jfsmonline.com/text.asp?2016/2/3/164/191470
| Introduction|| |
Spina bifida has a frequency of approximately 4.39/10,000 live births in China.  Myelomeningocele (MMC), accounting for about 90% of all spina bifida, is characterized by herniation of spinal cord contents and meningeal membranes through a vertebral defect.  Early surgical closure of the malformation, usually within 48-72 h from birth, is important to preserve functional neural tissues, reduce the risk of cerebrospinal fluid (CSF) leakage and infection, and avoid spinal cord tethering.  Subsequent to medical advances, the 1 st -year survival rate of affected infants significantly improved since 1960s and now exceeds 92%. , While the rest mostly die of combined malformations or severe complications associated with MMC.  An unexpected childhood death after a medical treatment has not been published. Herein, we describe a 3-month-old infant born with a MMC, who died following an inadvertent treatment performed by an illegal medical practitioner.
| Case Report|| |
A 3-month-old female presented with a lumbosacral cyst visible since her birth. The size had been increasing gradually over age. On the day of her death, she was taken to an illegal medical clinic for treatment without any neurological, motor, or urologic dysfunction. The illegal medical practitioner aspirated the cyst three times, with clear fluid (5 ml) on each aspiration. The first two aspiration procedure took 20 min, and the last one was 10 min. Following the third aspiration, the infant lost consciousness and died before reaching hospital.
Forensic autopsy is compulsory in cases of illegal medical practice and was performed on the 2 nd day after death. On external examination, a partially collapsed cyst was present on the lumbosacral region, of size 6.5 cm × 5.5 cm, soft in consistency, covered with skin, and without vascular or hairy stigmata [Figure 1]a. Evidence of medical therapy included needle marks on the skin covering the cyst. No additional remarkable finding was showed on external examination.
|Figure 1: (a) Partially collapsed cyst on the lumbosacral region, covered with skin. (b) Lumbosacral cyst containing cerebrospinal fluid and neural tissue. (c) Vertebral defects occurring at fifth lumbar and all sacral vertebral levels (black arrow)|
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Internally, the lumbosacral cyst contained CSF and neural tissue [Figure 1]b. Most of the neural tissue was adhered to the median position of the cyst wall, which was composed of fibrous tissue resembling spinal dura mater. Spinal autopsy revealed defective laminae at the fifth lumbar and sacral vertebrae [Figure 1]c. In addition, the anterior fontanel appeared deeply sunken [Figure 2]a. The fresh brain, weighing 700 g was soft and swollen, with flattened gyri and narrowed sulci. Marked indentations and blanched discoloration were observed on the ventral surface of cerebellar tonsil, with hemorrhage on the medulla [Figure 2]b. The lungs and heart showed no signs of abnormality. Macroscopic examinations of the remaining organs were completely unremarkable, except for congestion and edema.
|Figure 2: (a) Deep sunken anterior fontanel. (b) Indentations on the ventral surface of cerebellar tonsil (white arrows) with surrounding hemorrhage on the medulla (black arrow)|
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Histological examination revealed that the cystic wall differed from normal cutis. The outer layer of the cystic wall was composed of cutis with poor adnexal structures and rich fibrous tissue, while the inner layer was composed of dense sclerotic collagenous tissue bundles and neural elements. The internal organs showed no pathological changes.
Postmortem toxicology analysis for common drugs was negative.
| Discussion|| |
MMC may occur anywhere along the spinal column, mostly found on the lumbosacral region.  Depending on the level of the lesion, individuals with MMC have a different grades of physical disabilities affecting the neurological, orthopedic, and urologic systems.  A prominent feature of our reported case was the isolated occurrence of lumbosacral cyst without any neurological, motor, or urologic dysfunction. Despite this, the possibility of MMC still existed. As reported in [Figure 1], forensic autopsy results showed a lumbosacral cyst, incorporating CSF, neural tissue and meninges, and spinal defects at the levels of 5 th lumber and the sacral vertebrae, confirming the diagnosis of MMC.
In clinical practice, MMC should be differentiated from other lesions which have a similar appearance to cysts. , Imaging examinations are useful ways to make differentiation and avoid diagnostic error. The key imaging distinction is spine dysraphism and the contents of the protruding cyst. While in some remote areas with poor imaging equipment, transillumination test is a simple way of providing an initial differential diagnosis. Nerves floating in a hammock can be observed when high intensity light illuminates the MMC cyst.  Besides, observing the size of the cyst may also assist with differentiation, as MMC cysts can be reducible, and exhibit a cough or cry impulse.
Unfortunately, the above methods were not used for a differential diagnosis by the illegally practicing physicians. An inadvertent treatment occurred, leading to a fatal consequence. These illegal medical practitioners, also called barefoot or village doctors, are nonlicensed and therefore barred from medical practice. Their illegal medical practices are prohibited by the Chinese government, while continue to, especially occur in some remote areas.  Residents of poor areas may have no money left to afford formal health care, and seek medical treatment at these cheaper medical clinics when sick. The opening hours are another reason for residents to turn to illegal clinics. The illegal providers offer their services at any time compared with regular health care.  Whereas one should bear in mind that these providers lack any type of medical education or training, have limited medical knowledge and poorly medically equipment, and provide nonstandardized clinical care and treatment. An encounter with a lumbosacral cyst during consultation may mean that MMC goes unrecognized, leading, as in this case, to lethal consequences.
Forensic autopsy provides valuable information in determining the exact cause of death and presenting expert evidence on causality between illegal medical procedure and death.  Literature reveals that common causes of death in children with MMC were hydrocephalus, infections, cardiac anomalies, pneumonia, and pulmonary embolism.  The postmortem examinations revealed cerebellar tonsillar herniation at the base of the brain, with hemorrhage on the medulla, which was ascertained as the cause of death.
Aspiration of MMC cyst leads to devastating consequence and is inadvisable. The brain tissue is enclosed in a rigid skull, changes in CSF pressure can impair intracranial pressure (ICP) homeostasis. An abnormal pressure gradient within the CNS compartment allows the movement of central nervous system tissue out of its normal position. Tonsillar herniation is well documented as the result of continuous lumbar punctures.  In the case under discussion, a further craniospinal pressure gradient, as a result of CSF withdrawal from the repetitive and rapid lumbosacral cyst puncture, allowed cerebellar tonsillar herniation into the foramen magnum. Thus, the reported case clearly indicated the causal link between CSF leakage, the resulting craniospinal pressure gradient, tonsillar herniation, and lumbosacral cyst puncture drainage.
This is a lamentable case and death could be prevented if timely and appropriate examination and treatment were provided. Hence, prevention programs should be developed to minimize the occurrence of tragedy. As can be seen, there were still some people have not realized the limitations and risks of these illegal medical practices. The health care authorities can appeal for public awareness for this issue and guide them to seek for regular medical care. This case also revealed the need to provide adequate and practical training to unregistered practitioners, in order to improve their skills and obtain a practicing license. However, most of all, the health care sectors should make efforts to ensure that infants in rural areas, especially in poor regions, have access to basic health services. Examples of such measures include increasing government subsidies, improving infrastructure for primary infant health care, and encouraging experienced physicians to service in country hospitals.
| Conclusion|| |
This is a pathetic case of preventable infant death. Gross negligence was admitted by the illegal medical practitioner. The common location of MMC is lumbosacral, and its possibility should be considered in infants born with lumbosacral cyst. There are several ways to guarantee correct diagnosis and avoid error, including imaging examinations and the transillumination test. Isolated drainage through needle aspiration is contraindicated as the repetitive and rapid release of CSF will impair ICP homeostasis and lead to fatal consequences. This case also confirms the role of forensic autopsy in identifying or excluding iatrogenic factors that may be associated with death following a diagnostic and invasive procedure. A final point that deserves mention is that programs should be developed to prevent such tragedy.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Ye R, Li S, Zheng J, Hong S, Chen X, Wang T, et al
. Prevalence of neural tube defects at birth in 30 countries and cities of China, 1993-2000. J Peking Univ (Health Sci) 2002;34:204-9.
Caterino JM, Scheatzle MD, D'Antonio JA. Descriptive analysis of 258 emergency department visits by spina bifida patients. J Emerg Med 2006;31:17-22.
Di Rocco C, Trevisi G, Massimi L. Myelomeningocele: An overview. World Neurosurg 2014;81:294-5.
Laurence KM. Effect of early surgery for spina bifida cystica on survival and quality of life. Lancet 1974;1:301-4.
Bol KA, Collins JS, Kirby RS; National Birth Defects Prevention Network. Survival of infants with neural tube defects in the presence of folic acid fortification. Pediatrics 2006;117:803-13.
Kancherla V, Druschel CM, Oakley GP Jr. Population-based study to determine mortality in spina bifida: New York State congenital malformations registry, 1983 to 2006. Birth Defects Res A Clin Mol Teratol 2014;100:563-75.
Bulas D. Fetal evaluation of spine dysraphism. Pediatr Radiol 2010;40:1029-37.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet 2004;364:1885-95.
Martínez-Lage JF, Niguez BF, Pérez-Espejo MA, Almagro MJ, Maeztu C. Midline cutaneous lumbosacral lesions: Not always a sign of occult spinal dysraphism. Childs Nerv Syst 2006;22:623-7.
Snelling CM, Ellis PM, Smith RM, Rossiter JP. Lipomatous lumbar mass with an attached digit and associated split cord malformation. Can J Neurol Sci 2008;35:250-4.
Sharma D, Shastri S, Pandita A. Transillumination test: A bedside aid for differentiating meningocele from myelomeningocele: Point of care testing. Med J DY Patil Univ 2015;8:276.
Shen Y, Li L, Grant J, Rubio A, Zhao Z, Zhang X, et al.
Anaphylactic deaths in Maryland (United States) and Shanghai (China): A review of forensic autopsy cases from 2004 to 2006. Forensic Sci Int 2009;186:1-5.
Bork-Hüffer T, Kraas F. Health care disparities in megaurban China: The ambivalent role of unregistered practitioners. Tijdschr Econ Soc Geogr 2015;106:339-52.
Lu X, Langlois NE. Autopsy findings in deaths following a medical procedure. Aust J Forensic Sci 2014;46:447-50.
Wright BL, Lai JT, Sinclair AJ. Cerebrospinal fluid and lumbar puncture: A practical review. J Neurol 2012;259:1530-45.
[Figure 1], [Figure 2]