Correlations between Ultrasound and Pathology in Fetal Ventricular System Anomalies

A total of 113 cases of fetal hydrocephalus with a lethal outcome (FHLO) from the Embryo-Fetopathologic Clinic at the Center for Maternity and Neonatology, Tunis, Tunisia and Obstetrics and Gynecology Clinic at St. George EAD University Hospital, Plovdiv, Bulgaria were studied, 86 of which had syndrome malformations: neural tube defects (NTDs)—29.2%, chromosomal abnormalities—23.9%, skeletal dysplasias—9.8%, VACTERL association—5.3%, Dandy-Walker malformation—3.4%, Other—14.2%. Risk factors for FHLO are miscarriages (odds ratio (OR): 19.500; confidence interval (CI): 4.020-94.594), stillbirths (OR: 10.897; CI: 1.169-10.564) and previous birth of a malformative child (OR = 5.385; CI: 1.385–18.896). FHLO is significantly associated with a maternal age over 40 years and third degree consanguinity of the fetus (OR = 18.500; CI: 1.146–298.547). The trisomies in our study were 27 (23.9%) and are significantly associated with an age above 38 years and FHLO (OR = 13.689; CI: 3.952–52.122). In medical abortion, stillbirth, or neonatal death, a fetopathological study enriches our knowledge of malformations, complements and completes the ultrasound examination, modifies genetic counseling, and determines the medical behavior in subsequent pregnancies. Also, associated risk factors and fetopathological changes in FHLO must be studied to increase the ultrasound prenatal diagnosis success

Concomitant combined degenerative compression of the spinal cord and cauda Equina: A report on three cases

We report on three cases with concomitant combined degenerative compression of the spinal cord and cauda equina which were diagnosed and operated in a single stage. The first case presents left-sided paramedian disc herniations at L1-2 and L4-5 levels, combined with concurrent degenerative spinal stenosis. The second case includes right-sided paramedian disc herniation at Th12-L1 level in combination with severe degenerative lumbar spinal stenosis at L3-4 level. The third case describes advanced degenerative compression at Th7-8 level with concurrent central spinal stenosis at L4-5 level.We have discussed the clinical presentation of concurrent combined symptomatic degenerative compression of the spinal cord and cauda equinа which can deceive the physician and lead to omitted diagnosis of the thoracic compression.In an attempt to avoid misdiagnosis of thoracic degenerative compression, it is necessary to perform thorough neurological examination of the spinal cord motor and sensory functions. In addition, further MRI examination of upper spinal segments is needed, if previous studies of the lumbar spine fail to provide reasonable explanation for the existing neurological symptoms

Importancia de la autopsia fetal en casos de abortos espontáneos.

Objetivos: Subrayar la necesidad y la importancia de las investigaciones fetopatológicas en casos de abortos espontáneos.Material y métodología: En Bulgaria y Vietnam se ha llevado a cabo la investigación fetopatológica de dos fetos obtenidos en casos de abortos espontáneos entre la decimonona y la vigésimoprimera semana de gestación. Se ha aplicado la autopsia clásica de fetos, conservados a base de disolución de formaldehído en agua en una proporción de 40% en peso, acompañada por examen externo, análisis biométrico y disección in situ. Se ha obtenido material fotográfico de los hallazgos patológicos y material para el examen microscópico.Resultados: En el primer feto la malformación se ha diagnosticadf como un caso de cranio-rachischisis totalis, asociada con anomalías faciales, anomalías de las extremidades, anomalías del aparato excretor, el aparato reprodutor y el sistema digestivo. En el segundo feto se ha diagnosticado anencefalia (acrania) asociada con anomalías faciales, anomalías de las extremidades y de los órganos internos.Discusión: En ambos casos se han descubierto defectos del tubo neural (DTN) relacionados con las grandes anomalías, incompatibles con la vida, que tienen una frecuencia de entre 0.5 a 6 casos en cada 1000 partos. La presente investigación comprueba que el aborto espontáneo y las causas que lo provocan no han de ser menospreciados. El estudio pone énfasis en la importancia de la autopsia en la medicina fetal y su inapreciable valor para la perspectiva del próximo embaraz

Myelomeningocele with Associated Anomalies – Case Report and Literature Review

Myelomeningocele is a common defect of the development of the neural tube. It is a complex congenital malformation of the central nervous system (CNS) that can be associated with other concurrent anomalies. We report on a case of lumbar myelomeningocele with concomitant CNS malformations we followed up over a period of 15 years. A concise literature review has also been performed. The current report illustrates that the myelomeningocele is a complex anomaly that is commonly associated with a variety of other CNS malformations such as hydrocephalus and Chiari malformation. It may follow chronic progressive course with exacerbation of clinical symptoms in the long term. Patients that have undergone surgical correction of this spinal defect should be closely monitored over a long period of time because of the possibility of clinical deterioration of the concomitant anomalies such as hydrocephalus, Chiari malformation and siryngomyelia

Clinical Aspects of Spinal Meningiomas: a Review

Spinal meningiomas are found in all age groups, predominantly in women aged over 50 years. The clinical symptoms of this condition may range from mild to significant neurological deficit, varying widely depending on the location, position in relation to the spinal cord, size and histological type of the tumor. Magnetic resonance imaging is the diagnostic tool of choice because it shows the location, size, the axial position of the tumor, and the presence of concomitant conditions such as spinal malformations, edema or syringomyelia.  According to the degree of malignancy, the World Health Organization divides meningiomas into three grades: grade I - benign; grade II – atypical, and grade III - malignant. The goal of the surgery is total resection which is achievable in 82%–98% of cases. Advances in radiosurgery have led to its increased use as primary or adjunct therapy. The current paper aims to review the fundamental clinical as-pects of spinal meningiomas such as their epidemiology, clinical presentation, histological characteristics, diagnostics, and management

Sporadic spinal schwannomas and neurofibromas - a review

Tumours arising from the spinal nerve roots are more common in men between the third and fourth decades of life, located mainly in the intradural space of the lumbar region. The clinical symptoms of spinal schwannomas and neurofibromas are similar and depend on the location of the tumour and its relationship to the spinal cord and nerve roots. The pain (radiculalgia and/or vertebralgia) is the earliest symptom, followed by sensory deficit, while motor deficits and sphincter disorders are late symptoms. Magnetic resonance imaging is the diagnostic tool of choice and should be performed when the disease is suspected, as early and accurate diagnosis is essential for treatment outcome. The treatment of these lesions is surgical aiming at total tumour resection that promotes neurological recovery and prevents from recurrences. Subtotal removal also provides favourable outcome but at higher recurrence rates. The aim of this literature review was to study some important characteristics of sporadic spinal schwannomas (SSS) and neurofibromas (SSN), i.e. those notassociated with neurofibromatosis type I and II

Sacral nerve root metastasis in a patient with lung carcinoma resembling neurinoma – a case report and literature review

Intradural extramedullary metastases from systemic neoplasms are very rare, with an incidence ranging from 2% to 5% of all secondary spinal diseases. We present the case of a 53-year-old man diagnosed with lung adenocarcinoma with symptoms of severe back pain and tibial paresis. The magnetic resonance imaging (MRI) revealed an intradural lesion originating from the right S1 nerve root mimicking neurinoma. Total tumor removal was achieved via posterior midline approach. The histological examination was consistent with lung carcinoma metastasis. Due to the rarity of single nodular nerve root metastases, MRI images may be misinterpreted as nerve sheath tumors, such as schwannomas or neurofibromas. We performed a brief literature review outlining the mainstay of diagnosis, therapeutic approach, and the prognosis of these rare lesions

Contemporary insight into diffuse axonal injury

Diffuse axonal injury (DAI) is present in approximately 50% of the cases with severe traumatic brain injury. It is one of the leading causes of morbidity and mortality among children and young individuals worldwide. Generally, DAI occurs as a result of high-velocity accidents. Typically, it presents with loss of consciousness for at least 6 hours and neurological deficit dependent on the brain area that is affected by the injury. The final diagnosis is confirmed by neuroimaging studies such as computed tomography and magnetic resonance imaging. According to the injured brain site, DAI is classified into three grades: Grade I–DAI with axonal lesions in the cerebral hemispheres; Grade II–DAI with focal axonal lesions in the corpus callosum; Grade III–DAI with focal or multiple axonal lesions in the brainstem. Each of the three grades is associated with different outcome.Due to the high disability and mortality rate, DAI represents an important medical, personal and social problem. The aim of the current review is to address the unsolved issues connected with the pathogenesis, diagnostics, treatment and outcome of the diffuse axonal injury