scholarly journals Spina bifida: a multidisciplinary problem (a literature review)

2021 ◽  
Vol 11 (2) ◽  
pp. 201-213
Author(s):  
Stanislav V. Ivanov ◽  
Vladimir M. Kenis ◽  
Anna Y. Shchedrina ◽  
Oleg N. Onufriichuk ◽  
Alina M. Khodorovskaya ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spina Bifida ◽  
Congenital Malformations ◽  
Spinal Dysraphism ◽  
Clinical Manifestations ◽  
Lower Extremities ◽  
Integrated Approach ◽  
Foot Deformities ◽  
Wide Range ◽  
Rehabilitation Potential

BACKGROUND: Congenital malformations of the spine and spinal cord can be combined with various clinical manifestations of the spine, spinal cord, and lower extremities. Children with these neurological disorders often lack sensitivity and motor activity of their lower extremities and, in most cases, have bladder infections and incontinence (lack of bladder and bowel control). AIM: This study aims to analyze publications with the diagnostic and treatment results of patients with neurological, orthopedic, neurological, and ophthalmological problems with spina bifida. MATERIALS AND METHODS: We searched PubMed, Web of Science, Scopus, MEDLINE, eLibrary, and RSCI databases and found about 2000 references and 374 articles. We selected 60 articles for review in orthopedics, neurosurgery, urology, and ophthalmology. RESULTS: Neural tube defects are a wide range of congenital malformations, including skull defects and open or closed spinal dysraphism. The incidence of spine and spinal cord malformations in different countries is quite broad and amounts to 0.3199.4 cases per 10,000 births worldwide. Spinal cord malformations often occur in combination with bladder infections and incontinence, limb deformities, and other central nervous system developmental anomalies. Among the orthopedic problems leading to impaired support function, the most common are foot deformities and hip joint instability. Orthopedic monitoring of a patient with spina bifida consists of mainly preventing or correcting deformities according to the rehabilitation potential of the child. The timely completion of treatment allows the child to maintain mobility and independence of movement daily activities. At the same time, such treatment must pursue realistic goals according to the potential motor level of the child. In addition to neurosurgical and orthopedic problems, most children with spina bifida (88%94%) suffer from pelvic disorders. A urologist should observe a patient with spina bifida to perform ultrasound and laboratory monitoring of both the lower and upper urinary tract conditions from an early age. Timely procedures to eliminate urinary retention and sanitation can maintain normal kidney function and contribute to the adequate conduct of motor and neurological rehabilitation of the child. The most common complication of spina bifida is the Chiari II malformation, which is manifested by damage to brain stem structures and internal occlusal hydrocephalus with various symptoms, including neuroophthalmological signs. CONCLUSIONS: A multidisciplinary team of specialists comprising a neurologist, neurosurgeon, urologist, orthopedic surgeon, ophthalmologist, orthosis specialist, and psychologist should be involved in treating the children with the above presented problems. The use of an integrated approach to treat this group is absolutely justified and enabled the maximum rehabilitation potential of the child to be achieved.

scholarly journals A Case Report of Acute Severe Myelitis and Meningitis Secondary to Varicella Zoster Virus Reactivation in a Patient with Acquired Immunodeficiency Syndrome

2021 ◽  
Author(s):  
Victor A Novelo-Hernández ◽  
Marco Cárdenas ◽  
Claudia Torres-González ◽  
Patricio Garcia-Espinosa ◽  
Rómulo Ramirez ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Varicella Zoster Virus ◽  
Acquired Immunodeficiency Syndrome ◽  
Clinical Manifestations ◽  
Virus Reactivation ◽  
Neck Stiffness ◽  
Varicella Zoster ◽  
Wide Range ◽  
Acquired Immunodeficiency ◽  
Immunodeficiency Syndrome

Background: Myelitis post Herpes-Zoster is a rare condition that is typically associated with immunocompromised states. It usually starts as an acute loss of sensory and motor functions below the affected spinal cord level. The condition can range in severity from a mild to a fatal presentation. Other neurological complications include meningitis, atypical presentations should encourage the search for undiagnosed immunosuppression states. The Case: We describe the case of a 42-year-old man, previously undiagnosed with HIV, who developed acute myelitis and meningitis after the appearance of the classic zoster lesions. On lumbar puncture and subsequent CSF analysis, the patient was found to have Froin’s Syndrome. The patient was initiated with ceftriaxone, vancomycin, and acyclovir regimen and prophylactic antiphymic treatment was also added. After 14 days in the hospital, the fever, headache, and neck stiffness subsided while the sphincter function and lower limb paraplegia did not improve.   Conclusion: Varicella zoster virus reactivation suggests underlying immunosuppression. This case demonstrates the importance of being cognizant to the wide range of clinical manifestations that may suggest spinal cord involvement after clinical reactivation. Furthermore, physicians also need to be mindful that Acquired Immunodeficiency Syndrome (AIDS) and other immunodeficiency states could present with atypical clinical manifestations.

scholarly journals Intraspinal Neurenteric Cysts in Children

2008 ◽  
Vol 35 (5) ◽  
pp. 609-615 ◽  
Author(s):  
Chunquan Cai ◽  
Changhong Shen ◽  
Weidong Yang ◽  
Qingjiang Zhang ◽  
Xiaoli Hu
Keyword(s):  
Spinal Cord ◽  
Imaging Modality ◽  
Spinal Dysraphism ◽  
Clinical Manifestations ◽  
The Other ◽  
Cervical Region ◽  
Neurological Involvement ◽  
Neurenteric Cyst ◽  
Lumbar Region ◽  
Magnetic Resonance Imaging Mri

Background:Neurenteric cysts are rare congenital epithelium-lined cysts of the central nervous system. They are found predominantly in the spinal cord, with lower incidence in the intracranial compartment, and may be associated with various other congenital spinal anomalies. Seven patients with symptomatic intraspinal neurenteric cysts are presented.Materials and Methods:Seven patients with intraspinal neurenteric cysts aged from nine months to ten years treated at this hospital from May 2000 to July 2006 were reviewed. The clinical manifestations, imaging and surgical findings of patients were analyzed retrospectively. All patients underwent operation. One patient's cervical neurenteric cyst was resected using the lateral cervical approach, and the other six resections were performed with posterior approach.Results:All seven patients presented with neurological involvement. One patient had an intramedullary cyst, while the other six cysts were situated ventrally. Three patients' cysts occurred in the cervical region, two in the cervicothoracic region, one in the thoracic region and one in the lumbar region. One patient had bony anomalies, and one had a lumbar posterior occult spinal dysraphism. Five patients' symptoms improved rapidly after surgery.Conclusions:Intraspinal neurenteric cysts in children are rare and most occur ventral to the spinal cord. Magnetic resonance imaging (MRI) is the most effective imaging modality. Earlier diagnosis and surgical resection of spinal neurenteric cysts improves prognosis.

Spina Bifida and Related Conditions

2017 ◽  
Author(s):  
Stephen L. Kinsman
Keyword(s):  
Spinal Cord ◽  
Spina Bifida ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Spinal Dysraphism ◽  
Gene Interactions ◽  
Tethered Spinal Cord ◽  
Spinal Lesion ◽  
Gene Environment ◽  
Spina Bifida Aperta

The term “spinal dysraphism” encompasses the broadest array of the conditions known as the neural tube defects. The open neural tube defects (spina bifida aperta and cystica) include both disorders of primary and/or secondary neuralation and are best defined as myelomeningocele complex (MMC) due to their protean nervous system manifestations beyond the spinal lesion. Closed spinal dysraphisms (so-called spina bifida occulta) include lipomatous lesions, forms of tethered spinal cord, sinus tracts, and forms of split spinal cord (diastematomyelia). Both genetic and environmental etiologies have been identified. Gene-environment and gene-gene interactions are also important in the pathobiology of these conditions.

scholarly journals History of the current understanding and management of tethered spinal cord

2016 ◽  
Vol 25 (1) ◽  
pp. 78-87 ◽  
Author(s):  
Sam Safavi-Abbasi ◽  
Timothy B. Mapstone ◽  
Jacob B. Archer ◽  
Christopher Wilson ◽  
Nicholas Theodore ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spina Bifida ◽  
20Th Century ◽  
Surgical Management ◽  
Spinal Dysraphism ◽  
Current Understanding ◽  
Spina Bifida Occulta ◽  
Tethered Spinal Cord ◽  
Modern Management ◽  
Modern Imaging

An understanding of the underlying pathophysiology of tethered cord syndrome (TCS) and modern management strategies have only developed within the past few decades. Current understanding of this entity first began with the understanding and management of spina bifida; this later led to the gradual recognition of spina bifida occulta and the symptoms associated with tethering of the filum terminale. In the 17th century, Dutch anatomists provided the first descriptions and initiated surgical management efforts for spina bifida. In the 19th century, the term “spina bifida occulta” was coined and various presentations of spinal dysraphism were appreciated. The association of urinary, cutaneous, and skeletal abnormalities with spinal dysraphism was recognized in the 20th century. Early in the 20th century, some physicians began to suspect that traction on the conus medullaris caused myelodysplasia-related symptoms and that prophylactic surgical management could prevent the occurrence of clinical manifestations. It was not, however, until later in the 20th century that the term “tethered spinal cord” and the modern management of TCS were introduced. This gradual advancement in understanding at a time before the development of modern imaging modalities illustrates how, over the centuries, anatomists, pathologists, neurologists, and surgeons used clinical examination, a high level of suspicion, and interest in the subtle and overt clinical appearances of spinal dysraphism and TCS to advance understanding of pathophysiology, clinical appearance, and treatment of this entity. With the availability of modern imaging, spinal dysraphism can now be diagnosed and treated as early as the intrauterine stage.

scholarly journals Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene

2018 ◽  
Vol 8 (2) ◽  
pp. 59-67
Author(s):  
E. L. Dadali ◽  
S. S. Nikitin ◽  
F. A. Konovalov ◽  
I. A. Akimova ◽  
S. A. Korostelev
Keyword(s):  
Exome Sequencing ◽  
Muscular Atrophy ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Lower Extremities ◽  
Sensory Neuropathy ◽  
Lower Limbs ◽  
Study Objective ◽  
Genetic Characteristics ◽  
Wide Range

Background. Spinal muscle atrophies (SMA) are a group of diverse heterogenous diseases caused by mutations in several dozens of genes. A rare form of autosomal dominant SMA predominantly affects muscles of the lower extremities.The study objective is to describe clinical and genetic characteristics of Russia-living patients with SMA predominantly affecting muscles of the lower extremities caused by the DYNC1H1 gene mutation discovered by next-generation exome sequencing.Materials and methods. To diagnose the syndrome a complex of examination techniques was used: genealogical analysis, neurological examination, electromyography, and DNA diagnostics. Changes in the nucleotide sequence in the probands and their parents identified with massive parallel sequencing were studied using direct automatic sequencing with oligonucleotide primers.Results. Five (5) patients from 4 families with heterozygous mutations in the DYNC1H1 gene were identified. In the patients, one type of SMA predominantly affecting the lower extremities was assumed. Prior to exome sequencing, all patients were monitored for myelodysplasia diagnosis, and magnetic resonance imaging of the spine has showed protrusions and/or spondylolisthesis of the lumbar spine in 4 of the patients. The obtained results can demonstrate both hyperdiagnosis and that spinal pathology is one of the characteristic symptoms of SMA predominantly affecting the lower extremities.Conclusion. The obtained results allow to make an assumption about a wide range of clinical polymorphisms in patients with mutations of the DYNC1H1 gene. Apart from typical clinical manifestations of SMA predominantly affecting the lower extremities, patients can be diagnosed with hereditary motor and sensory neuropathy 2, myelodysplasia, and congenital arthrogryposis which has to be taken into account during diagnostic search.

scholarly journals Knee joint instability in conditions of congenital malformations of the lower extremities

2021 ◽  
pp. 80-85
Author(s):  
Sergij Khmyzov ◽  
Yevgen Yakushkin ◽  
Yelizaveta Katsalap
Keyword(s):  
Surgical Treatment ◽  
Knee Joint ◽  
Lower Extremity ◽  
Congenital Malformations ◽  
Joint Instability ◽  
Clinical Manifestations ◽  
Lower Extremities ◽  
Structural Features ◽  
Surgical Correction ◽  
Number Of Patients

It is impossible to find out the number of patients with knee joint instability (KJI) in case of congenital malformations of the lower extremities (CMLE). Children, adolescents and young people usually adapt well to this abnormality, so they rarely present with symptoms of instability, even with positive tests. The main reasons for the manifestation of KJI in CMLE are inadequate loading, injuries of the lower extremity and surgical correction. Objective. Based on the assessment of the scientific literature to define the KJI terminology, to identify the main causes of its development and clinical manifestations in conditions of CMLE, to identify trends in the treatment tactics. Methods. More than 500 articles from international libraries PubMed, NCBI, Google Scholar, Medscape, MedlinePlus were searched and analyzed. Taken into account the rarity of the abnormality and the small amount of research in recent years, the depth of the search was 25 years. Results. KJI in children with CMLE may be a consequence of congenital structural features of the lower extremity (isolated malformation in the form of agenesis of the cruciate ligaments or inferiority of the ligament of the knee joint in complex abnormality) and complication of surgical correction of longitudinal defects of the extremities. As the abnormality is not well studied, the tactics for such patients still remain the topic of discussion. The expediency of surgical stabilization of the knee joint has not been conclusively proven due to the fact that in the case of its anomalies certain adaptive mechanisms are formed, which on the one hand are not appropriate to violate, and on the other hand, the current level of medicine allows to promote patients’ functional capabilities, inducing KJI progressing. Conclusions. Children with CMLE adapt well to the concomitant KJI, so in everyday life and prior to surgical correction of CMLE, it does not bother patients. Particular attention should be paid to the stability of the knee joint both before and during prolongation and correction of deformity. The variability and severity of CMLE determines the implementation of multi-stage surgical treatment and surgical stabilization of the knee joint to improve extremity function may be one of them. Key words. Children, knee joint instability, congenital malformations, lower extremities, surgical treatment.

Chronopharmacology of alcoholism

2021 ◽  
Author(s):  
Е.В. Филиппова ◽  
Ю.К. Кондрашова ◽  
Ю.Ш. Тагоев
Keyword(s):  
Alcohol Withdrawal ◽  
Withdrawal Syndrome ◽  
Alcohol Intoxication ◽  
Clinical Manifestations ◽  
Alcohol Withdrawal Syndrome ◽  
Integrated Approach ◽  
Individual Characteristics ◽  
Wide Range ◽  
The Individual ◽  
Fear And Anxiety

В статье представлен анализ информации из литературных источников, посвященной изучению хронофармакологии алкоголизма. Для лечения алкоголизма используется комплексный подход, определяющийся тяжестью состояния больного и индивидуальными особенностями симптоматики. В связи со способностью фармакологических соединений вмешиваться в течение ритмических процессов на всех уровнях организации биосистемы хронофармакологический эффект лекарственных средств может быть полезным или нежелательным. Высокой степенью осложнений со стороны сердечно-сосудистой и нервной систем, а также печени и желудочно-кишечного тракта характеризуется хроническая алкогольная интоксикация. Надежного средства патогенетической фармакотерапии алкоголизма до настоящего времени не разработано. При этом лекарственные препараты используют в основном для купирования явлений абстиненции. Одно из первых мест в терапии алкогольного абстинентного синдрома, сопровождающегося тревогой, страхом и беспокойством, занимают депримирующие средства. Однако расширение их применения в Российской Федерации для лечения алкоголизма остается необоснованным. Так как алкоголизм вызывает крайне разнообразные по своим клиническим проявлениям и по степени тяжести психические расстройства, то для их лечения используется широкий спектр психотропных препаратов. Для проведения противогипоксической и детоксифицирующей терапии используются энергокорригирующие средства. Алкогольный абстинентный синдром с преобладанием неврозоподобных и вегетативнососудистых расстройств является показанием к применению препаратов из класса антиоксидантов. Они сочетают в себе свойства транквилизаторов и ноотропов, не оказывая токсического воздействия на сердце и защищая миокард в условиях гипоксии. Однако на данный момент существует дефицит информации об эффективности их применения при алкогольной абстиненции. The article presents an analysis of information from literary sources devoted to the study of the chronopharmacology of alcoholism. For the treatment of alcoholism, an integrated approach is used, which is determined by the severity of the patient's condition and the individual characteristics of the symptoms. Due to the ability of pharmacological compounds to interfere during rhythmic processes at all levels of the organization of the biosystem, the chronopharmacological effect of drugs may be useful or undesirable. Chronic alcohol intoxication is characterized by a high degree of complications from the cardiovascular, nervous systems, liver and gastrointestinal tract. A reliable means of pathogenetic pharmacotherapy of alcoholism has not yet been developed. At the same time, medications are used mainly for the relief of withdrawal symptoms. One of the first places in the treatment of alcohol withdrawal syndrome, accompanied by anxiety, fear and anxiety, is occupied by depressants. However, the expansion of their use in the Russian Federation for the treatment of alcoholism remains unfounded. Since alcoholism causes extremely diverse mental disorders in their clinical manifestations and severity, a wide range of psychotropic drugs is used for their treatment. For antihypoxic and detoxifying therapy, energy-correcting agents are also used. Alcohol withdrawal syndrome with a predominance of neurosis-like and vegetative-vascular disorders is an indication for the use of drugs from the class of antioxidants. They combine the properties of tranquilizers and nootropics, without having a toxic effect on the heart and protecting the myocardium in hypoxia. However, at the moment there is a lack of information about the effectiveness of their use in alcohol withdrawal.

DIASTEMATOMYELIA (CONGENITAL CLEFTS OF THE SPINAL CORD)

PEDIATRICS ◽  
1950 ◽  
Vol 6 (1) ◽  
pp. 98-112
Author(s):  
DONALD D. MATSON ◽  
ROBERT P. WOODS ◽  
JAMES B. CAMPBELL ◽  
FRANC D. INGRAHAM
Keyword(s):  
Spinal Cord ◽  
Spina Bifida ◽  
Cauda Equina ◽  
Lower Extremities ◽  
Growth Period ◽  
Posterior Aspect ◽  
Midline Defects ◽  
Neural Axis ◽  
Infancy And Early Childhood ◽  
Operative Findings

Diastematomyelia associated with the presence of a bony spicule arising from the posterior aspect of a vertebral body and transfixing the spinal cord or cauda equina has been encountered in 11 operative cases. In the last nine of these the diagnosis was made previous to operation. It seems apparent that progressive neurologic impairment of the lower extremities and of the rectal and vesical sphincters may result from increasing distortion of the neural axis as a result of fixation produced by these bony spicules during the growth period. The diagnosis is suspected in the presence of cutaneous midline defects, muscular imbalance in the lower extremities, gait disturbances, deformities of the feet, urinary or fecal incontinence or increasing enuresis. The diagnosis is confirmed on roentgen examination by the presence of a midline opacity usually in the region of a spina bifida or other vertebral anomaly or by visualization of two separate subarachnoid channels on myelography. Operative treatment consists in laminectomy with extradural removal of the bony spicule insofar as possible, followed by opening the dura with excision of its reflections adjacent to the spicule, excision of the remaining bony prominence down to the anterior dura, and division of all adhesions to the bifid cord or cauda equina until the latter is freely movable within a single dural canal. In all these cases there appeared to be complete division of the cord or cauda equina into separate parts rather than reduplication of the cord. Each half of the neural axis was invested with its own meninges. The operative findings in the 11 cases reported here, together with the brief follow-up observations noted to date, have convinced the authors that it constitutes good preventive medicine to carry out surgical treatment of diastematomyelia associated with spina bifida occulta at any time the diagnosis is made during infancy and early childhood.

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