Izabela Herman-Sucharska

Magnetic resonance imaging in the evaluation of the fetal spinal canal contents

Ultrasonography (US) remains the first method in the evaluation of fetal central nervous system (CNS) abnormalities but in case of the spinal canal and cord it is often insufficient since the bony structures may obscure these structures. Prenatal magnetic resonance imaging (MRI) is therefore the final noninvasive tool for the assessment of these malformations allowing for correction of sonographic findings, revealing the full extent of complex lesions and choosing the candidates for in utero treatment. The authors present the most frequent anomalies of spinal canal and spinal cord in the consecutive phases of pregnancy, illustrated with their own MR images, with reference to the literature and own experience. In 58 out of 252 fetuses examined due to suspicion of CNS anomalies (23.0%) the spinal canal and spinal cord abnormalities were found on MRI. The cases of diastematomyelia, myelomeningocele, tethered cord, caudal regression syndrome, anterior meningocele, cystic sacrococcygeal teratoma and syringohydromyelia are demonstrated.

Fetal central nervous system malformations on MR images

Sonography is the method of choice for prenatal malformation screening but it does not always provide sufficient information for correct diagnosis or adequate abnormality evaluation. Fetal magnetic resonance imaging (MRI) is considered as a valuable second line imaging tool for confirmation, completion and correction of sonographic findings. Fetal MRI has proven its value in the evaluation of central nervous system pathologies, especially of midline and posterior fossa malformations. The role of MRI is not only to confirm or exclude possible lesions but also to define their full extent, aiding in their characterization, and to demonstrate associated abnormalities. The authors describe the most common anomalies of CNS revealed by fetal MRI in a chronological way related to the age of pregnancy, with a review of own MR images and with reference to the literature and own experience.

Comparison of prenatal and postnatal treatments of spina bifida in Poland – a non-randomized, single-center study

Abstract Objective: The aim of this study was a comparison of the outcomes of intrauterine myelomeningocele (MMC) repairs (IUMR) in type II Chiari malformation (II CM) fetuses with clinical data of newborns and infants operated on postnatally. Methods: The study group (SG) comprised 46 pregnant women whose type II CM children underwent IUMR, while 47 pregnant women whose type II CM children were operated on postnatally constituted the control group (CG). A total of 24 SG and 20 CG patients reached the endpoint of the study. Results: High incidence of prelabor rupture of membranes (24 (52.2%), CI: 3.74 (1.69–8.26) (p < 0.001) was noted in the group of prenatal surgeries as compared to controls. The need for ventriculoperitoneal shunt implantation was statistically significantly lower (p < 0.008) in the group of children after IUMR as compared to controls (5 (27.8%) and 16 (80%), respectively, CI: 0.35 (0.16–0.75). None of the postnatally treated CG children can walk without adaptive equipment. In contrast, two children from the SG (2 (11.1%) CI: 1.86 (1.00–3.48) p < 0.05) are able to walk independently. Conclusions: Prenatal MMC closure significantly lowers further adverse evolution of the II CM. Further studies are needed, especially on preventive measures for preterm labor and iatrogenic preterm prelabor rupture of membranes (iPPRM) in the postoperative course of IUMR.

Evaluation of differentiated neurotherapy programs for a patient after severe TBI and long term coma using event-related potentials

Summary Background This article examines the effectiveness of differentiated rehabilitation programs for a patient with frontal syndrome after severe TBI and long-term coma. We hypothesized that there would be a small response to relative beta training, and a good response to rTMS, applied to regulate the dynamics of brain function. Case Report M. L-S, age 26, suffered from anosognosia, executive dysfunction, and behavioral changes, after a skiing accident and prolonged coma, rendering him unable to function independently in many situations of everyday life. Only slight progress was made after traditional rehabilitation. The patient took part in 20 sessions of relative beta training (program A) and later in 20 sessions of rTMS (program B); both programs were combined with behavioral training. We used standardized neuropsychological testing, as well as ERPs before the experiment, after the completion of program A, and again after the completion of program B. As hypothesized, patient M.L-S showed small improvements in executive dysfunction and behavioral disorders after the conclusion of program A, and major improvement after program B. Similarly, in physiological changes the patient showed small improvement after relative beta training and a significant improvement of the P300 NOGO component after the rTMS program. Conclusions The rTMS program produced larger physiological and behavioral changes than did relative beta training. A combination of different neurotherapeutical approaches (such as neurofeedback, rTMS, tDCS) can be suggested for similar severe cases of TBI. ERPs can be used to assess functional brain changes induced by neurotherapeutical programs.

Fetus in fetu: a medical curiosity—considerations based upon an intracranially located case

Introduction“Fetus in fetu” (FIF) is defined as the abnormal monozygotic twin inside the body of its “host twin.” Intracranial FIFs are extremely rare.Case presentationA male premature newborn was admitted to the hospital due to a large intracranial tumor diagnosed in the 31st week of gestation. The child died before surgical treatment because of failure of the respiratory system due to fetal respiratory distress syndrome. During general autopsy, a large intracranial tumor with four relatively well-developed limbs was found. Microscopically, apart from relatively well-formed musculoskeletal structures of limbs that were covered with skin, there were haphazardly distributed different tissues or fragments of organs. However, various neuroectodermal derivatives were dominant.ConclusionWe believe that intracranial FIFs, theoretically with poor prognosis, can be successfully curable in cases revealed prenatally, provided that optimal treatment is introduced and the achievement of proper pulmonary maturity of the host is accomplished prior to the operation of the tumor.

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

The KIF5A gene (OMIM 602821) encodes a neuron‐specific kinesin heavy chain involved in intracellular transport of mitochondria and other cargoes. KIF5A protein comprises the N terminal motor domain, the stalk domain and the C‐terminal cargo binding domain. The binding between KIF5A and its cargoes is mediated by kinesin adaptor proteins such as TRAK1 and TRAK2. Numerous missense KIF5A mutations in the motor and stalk domains cause spastic paraplegia type 10 (SPG10, OMIM 604187). Conversely, the role of loss‐of‐function mutations, especially those affecting the cargo binding domain, is unclear. We describe a novel de novo KIF5A p.Ser974fs/c.2921delC mutation found by whole exome sequencing in a patient with a congenital severe disease characterized by myoclonic seizures and progressive leukoencephalopathy. Since this phenotype differs considerably from the KIF5A/SPG10 disease spectrum we propose that the KIF5A p.Ser974fs and possibly other mutations which lead to truncation of the C‐terminal tail of the protein cause a novel disorder. We speculate that the unique effect of the C‐terminal truncating KIF5A mutations may result from the previously described complex role of this protein domain in binding of the TRAK2 and possibly other kinesin adaptor protein(s).

The use of magnetic resonance mammography in women at increased risk for developing breast cancer

Introduction The use of conventional imaging techniques, namely mammography (MMG) and ultrasound (US), for breast cancer (BC) detection in women at high risk for the disease does not bring optimal results in many cases. Aim The present study evaluated the effectiveness of magnetic resonance (MR) mammography (MRM) in cases where US and MMG failed to detect suspected breast lesions. Material and methods The study group consisted of 379 women who had had no breast pathologies detected by US and MMG. This group was then divided into 4 groups according to the relative risk of breast cancer development. All the women underwent MRM, and any breast pathology detected by MRM was then verified by open surgical biopsy (OSB). Results Based on the MRM findings, 37 women with breast pathologies were identified. All detected pathologies were then classified into one of the BIRADS (Breast Imaging Reporting and Data System) categories. Of these, 33 patients underwent open surgical biopsy. There were a total of 17 benign and 16 malignant breast pathologies that were not visualized by US and MMG. The types of malignancies found, in order of their frequency, were as follows: invasive ductal carcinoma (11 cases), ductal carcinoma in situ (2 cases), invasive lobular carcinoma (2 cases), and lobular carcinoma in situ (1 case). An analysis of MRM effectiveness in detecting BC showed 93.7% sensitivity and 64.71% specificity. Conclusions All women with a 20% or greater lifetime risk of developing BC should undergo annual MRM as a diagnostic adjunct to US and MMG.

A case of "borrowed identity syndrome" after severe traumatic brain injury.

Summary Background It is well known that traumatic brain injury often changes the way the patient perceives reality, which often means a distortion of the perception of self and the world. The purpose of this article is to understand the processes of identity change after traumatic brain injury. Case Report We describe progressive deterioration in personal identity in a former physician who had sustained a serious head injury (1998), resulting in focal injuries to the right frontal and temporal areas. He regained consciousness after 63 days in coma and 98 days of post-traumatic amnesia, but has since displayed a persistent loss of autobiographical memory, self-image, and emotional bonds to family and significant others. Qualitative ‘life-story’ interviewing was undertaken to explore the mental state of a patient whose subjective, “first person” identity has been disengaged, despite the retention of significant amounts of objective, “third person” information about himself and his personal history (though this was also lost at a later stage in the patient’s deterioration). Identity change in our patient was characterized by a dynamic and convoluted process of contraction, expansion and tentative balance. Our patient tends to cling to the self of others, borrowing their identities at least for the period he is able to remember. Identity is closely connected with the processes of memory. Conclusions The results will be examined in relation to the microgenetic theory of brain function. The brain mechanisms that may account for these impairments are discussed. Findings from this study have important implications for the delivery of person-focused rehabilitation.

Brain Maturation—Differences in Biochemical Composition of Fetal and Child's Brain

ABSTRACT Introduction: The aim of this study was to evaluate differences in 1H MRS spectra of the brain of fetuses and children from 6 to 11 years of age. Material and methods: 21 healthy fetuses in the third trimester and 22 children were examined using the proton nuclear magnetic resonance. The relative metabolite concentrations to the sum of all metabolites were calculated. Results: In the 1H MRS spectra of the brain from fetuses and children, there are the same characteristic peaks: N-acetylaspartate (NAA), creatine (Cr), choline (Cho), and myo-inositol (mI). NAA/Σ, NAA/Cr, and Cr/Σ concentrations are significantly higher and Cho/Σ, Cho/Cr, mI/Σ, and mI/Cr are significantly lower in children than in the fetuses. Conclusions: It was found that the brain metabolism changes from fetal life to childhood. The results of this study may provide a valuable basis for further research on brain maturation and “healthy aging.”

Relationship between Proton Magnetic Resonance Spectroscopy of Frontoinsular Gray Matter and Neurodevelopmental Outcomes in Very Low Birth Weight Children at the Age of 4

Very low birth weight is associated with long term neurodevelopmental complications. Macroscopic brain abnormalities in prematurity survivors have been investigated in several studies. However, there is limited data regarding local cerebral metabolic status and neurodevelopmental outcomes. The purpose of this study was to characterize the relationship between proton magnetic resonance spectra in basal ganglia, frontal white matter and frontoinsular gray matter, neurodevelopmental outcomes assessed with the Leiter scale and the Developmental Test of Visual Perception and selected socioeconomic variables in a cohort of very low birth weight children at the age of four. Children were divided in three groups based on the severity of neurodevelopmental impairment. There were no differences in spectroscopy in basal ganglia and frontal white matter between the groups. Lower concentrations of N-acetylaspartate (NAA), choline (Cho) and myoinositol (mI) were observed in the frontoinsular cortex of the left hemisphere in children with neurodevelopmental impairment compared to children with normal neurodevelopmental outcomes. Higher parental education, daycare attendance and breastfeeding after birth were associated with more favorable neurodevelopmental prognosis, whereas rural residence was more prevalent in children with moderate and severe impairment. Our study demonstrates the role of long term neurometabolic disruption in the left frontoinsular cortex and selected socioeconomic variables in determination of neurodevelopmental prognosis in prematurity survivors.