Open Fetal Surgery for Ventricular-Amniotic Valve Implantation in Aqueductal Stenosis-Dependent Severe Fetal Hydrocephalus: A Case Report with 7-Year Follow-Up.

INTRODUCTION: Fetal ventriculomegaly is one of the most commonly diagnosed central nervous system pathologies of the second trimester, occurring with a frequency of 0.3-0.5/1,000 births. Severe fetal ventriculomegaly (SVM) may necessitate intrauterine intervention. Most such interventions have been made percutaneously with ultrasound guidance insertion of a pigtail catheter, which sadly often became obstructed or migrated. CASE PRESENTATION: Our case report presents the possibility of ventriculo-amniotic valve implantation (VAVI) by classic hysterotomy in isolated severe fetal hydrocephalus (IVSM) due to aqueductal stenosis. The patient was operated on similarly to open fetal surgery MOMS criteria at 24+4/7 GA, with an initial lateral ventricular dimension of 22.5 mm. A female newborn was delivered by elective cesarean section at 31+1/7 GA due to PPROM (Apgar 10' 8 points, birth weight 1,600 g), required CPAP, and removal of the drainage system due to infection and narrow lateral ventricles. Evans index (EI) gradual increase and clinical symptoms of high-pressure hydrocephalus after 10 days required a ventricle-peritoneal shunt (VPS) implantation. The newborn was discharged home after 28 days with stabile hydrocephalus (EI: 0.59-0.6), in good clinical condition. The 7-year follow-up was complicated by epilepsy, VPS shunt infections, delay in motor and intellectual functions (mild to moderate), and symptoms of atypical autism, the phenotype possibly related to a variant in ZEB2 gene. CONCLUSION: Intrauterine VAVI is a one-step procedure that is effective in draining CFS. The limitations of the method remain complications due to preterm labor and infection of the drainage system.

Magnetisation transfer imaging revealed microstructural changes related to apathy symptoms after ischaemic stroke.

OBJECTIVES: Apathy after stroke is common and has a negative impact on functional recovery. Neuroimaging correlates of poststroke apathy remain unclear. We aimed to investigate microstructural changes associated with the severity of poststroke apathy symptoms. METHODS: We assessed 67 patients with cerebral ischaemia who underwent magnetisation transfer brain imaging 12-15 months after stroke. We used magnetisation transfer ratio (MTR) to represent microstructural integrity. We performed whole-brain voxel-based analysis and subsequent region of interest analysis to investigate the association between MTR and symptoms of poststroke apathy. To assess apathy symptoms, we used clinician-reported version of the Apathy Evaluation Scale. RESULTS: Voxel-based analysis showed the association between symptoms of apathy and decreased MTR in areas overlapping with structures located in both hemispheres: left thalamus, bilateral hippocampus, bilateral fornix/stria terminalis, right amygdala, splenium of the corpus callosum, the retrolenticular part of left internal capsule and left sagittal stratum. In the region of interest analysis, only lower MTR in right fornix/stria terminalis was associated with greater poststroke apathy symptoms in a multivariate logistic model (odds ratio: 1.25, 95% CI: 1.09-1.46, p = 0.003). These associations were independent of depressive symptoms. CONCLUSION: Magnetisation transfer brain imaging 12-15 months after stroke revealed changes in microstructural integrity associated with apathy symptoms in brain areas related to processing emotional information and reward valuation.

Prevalence and anatomical characteristics of developmental venous anomalies: an MRI study.

PURPOSE: Developmental venous anomalies (DVAs) are extreme anatomical venous variations formed by multiple radiating medullary veins, which converge centripetally into a single collecting vein. Their coexistence with symptomatic cavernous malformations (CMs) has been reported in the literature. The aim of this study was to assess the characteristics of DVAs using MRI. METHODS: A total of 6948 head MRIs of adult Caucasian patients were retrospectively analyzed to determine the number and locations of DVAs. We collected the data on the termination of the collecting vein, the prevalence of DVA-related CMs, and MRI FLAIR signal-hyperintensity corresponding to the location of the DVA. RESULTS: At least one DVA was identified in 7.46% of the patients. The prevalence decreased with age, with a Pearson correlation coefficient of - 0.7328. A total of 599 DVAs were identified. Multiple DVAs were found in 10.92% of the patients with DVAs. The DVAs were identified more often in the supratentorial region (73.12%, p < 0.0001), and the most common location was the frontal lobe (35.23%). The collecting vein usually drained into the superficial cerebral veins (68.78%). CMs were observed in 4.14% of the patients with DVAs, and the prevalence showed a positive correlation with age. Signal-intensity abnormalities were identified in the vicinity of 5.18% DVAs. CONCLUSION: Knowledge about characteristics of DVAs and associated anomalies is essential for neuroradiologists and neurosurgeons. The large number of currently available diagnostic studies enables us to assess anatomical variants on a great number of subjects.

Simple Endoscopic Score of Crohn Disease and Magnetic Resonance Enterography in Children: Report From ImageKids Study.

OBJECTIVES: We aimed to explore the ability of magnetic resonance enterography (MRE) to impute the simple endoscopic score of Crohn disease (SES-CD) in children with CD, in whom failure of ileal intubation is common and may impair SES-CD calculation in clinical studies. METHODS: This is a substudy of the prospective ImageKids study in which children with CD underwent ileocolonoscopy (scored by SES-CD) and MRE (scored on a 100 mm visual analogue scale [VAS] and by MaRIA). Mucosal healing (MH) was defined as SES-CD <3, MRE-VAS <20 mm, and/or MaRIA <7. RESULTS: A total of 237 children (22 centers, age 11.5 ±â€Š3.3 years), were enrolled. Ileal intubation has failed in 40 of 237 (17%). The agreement between SES-CD and MRE was 75% (k = 0.508, P < 0.001) in the ileum, and 68% to 85% in the colonic segments (k = 0.21-0.50, P < 0.001). The sensitivity and specificity of ileal MRE-VAS for MH were 91.7% (95% confidence interval 0.84-0.96) and 53.1% (95% confidence interval 0.43-0.63), respectively. The ileal MaRIA score (calculated in 33/40) was higher in the children without ileal intubation than in the others (20.5 ±â€Š7.1 vs 15.1 ±â€Š10.8, respectively, P = 0.0018). In 7% (16/237) of children, isolated active ileal disease would have been missed when considering SES-CD only. A multivariable model predicted the ileal SES-CD subscore from the MaRIA: SES-CDileum = 1.145 + 0.169 × MaRIAileum rounded to the nearest whole number (R = 0.17). Applying this model to the children without ileal intubation revealed that 29 of 33 (88%) had ileal disease; 8 of 29 patients (28%) with normal colonic SES-CD had imputed ileal SES-CD ≥3. CONCLUSIONS: MRE is useful for imputing the ileal disease in pediatric clinical studies, overcoming the problem of ileal nonintubation.

The Use of Indomethacin with Complete Amniotic Fluid Replacement and Classic Hysterotomy for the Reduction of Perinatal Complications of Intrauterine Myelomeningocele Repair.

OBJECTIVE: This study presented outcomes of classical hysterotomy with modified antiprostaglandin therapy for intrauterine repair of foetal myelomeningocele (fMMC) performed in a single perinatal centre. STUDY DESIGN: Forty-nine pregnant women diagnosed with fMMC underwent classic hysterotomy with anti-prostaglandin management, complete amniotic fluid replacement and high dose indomethacin application. RESULTS: The average gestational age (GA) at delivery was 34.4 ± 3.4 weeks, with no births before 30 weeks GA. There were 2 foetal deaths. Complete reversal of hindbrain herniation (HH), assessed in magnetic resonance imaging at 30-31 weeks GA was found in 72% of foetuses (mostly with HH grade I prior to fMMC repair). Our protocol resulted in rare use of magnesium sulphate (6%), low incidence of chorioamniotic membrane separation - chorioamniotic membrane separation (6%), preterm premature rupture of membranes - preterm premature rupture of membranes (pPROM; 15%) and preterm labour - preterm labour (PTL; 17%). The postoperative wound continuity of the uterus was usually stable (in 72% of patients), with low frequency of scar thinning (23%). CONCLUSION: Our protocol results in rare use of tocolytics, and the low occurrences of CMS, pPROM and PTL in relation to other study cohorts: Management of Myelomeningocele Study, Children's Hospital of Philadelphia, and Vanderbilt University Medical Centre.

Perianal Pediatric Crohn Disease Is Associated With a Distinct Phenotype and Greater Inflammatory Burden.

OBJECTIVES: Data on the outcomes of children with perianal Crohn disease (pCD) are limited, although its presence is often used for justifying early use of biologics. We aimed to assess whether pCD in children is associated with more severe outcomes as found in adults. METHODS: Data were extracted from the ImageKids database, a prospective, multicenter, longitudinal cohort study. The study enrolled 246 children at disease onset or thereafter. All patients underwent comprehensive clinical, endoscopic, and radiologic evaluation at enrollment; 98 children had repeat evaluation at 18 months. RESULTS: Of the 234 included patients (mean age 14.2 ±â€Š2.4 years; 131 [56%] boys), 57 (24%) had perianal findings, whereas only 21 (9%) had fistulizing perianal disease. Children with pCD had reduced weight and height z scores compared with non-pCD patients (-0.9 vs -0.35, P = 0.03 and -0.68 vs -0.23, respectively; P = 0.04), higher weighted pediatric CD activity index (32 [interquartile range 16-50] vs 20 [8-37]; P = 0.004), lower serum albumin (3.6 ±â€Š0.7 vs 4.5 ±â€Š0.8, P = 0.016), and higher magnetic resonance enterography global inflammatory score (P = 0.04). Children with pCD had more rectal (57% vs 38%, P = 0.04), and jejunal involvement (31% vs 11% P = 0.003) and a higher prevalence of granulomas (64% vs 23%, P = 0.0001). Magnetic resonance enterography-based damage scores did not differ between groups. Patients with skin tags/fissures only, had similar clinical, endoscopic, and radiologic characteristics as patients with no perianal findings. CONCLUSIONS: Pediatric patients with pCD with fistulizing disease have distinct phenotypic features and a predisposition to a greater inflammatory burden.

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

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."

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 PRESENTATION: A 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. CONCLUSION: We 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.

Torticollis as a first sign of posterior fossa and cervical spinal cord tumors in children.

BACKGROUND: Torticollis, despite being well-known neurological manifestation, is often underestimated as a first symptom of the abnormalities of posterior cranial cavity and cervical spinal cord. OBJECTIVES: The purpose of this study is to analyze the occurrence of acquired torticollis in children as a herald sign of the tumors of the cervical spinal cord or of the posterior fossa. METHODS: Clinical records of 54 cases treated for the tumor of the cervical spinal cord or posterior fossa (including congenital ones) were retrospectively reviewed. The following data were calculated: the occurrence of the torticollis as a first sign of tumors, the duration time from the onset of the symptoms to diagnosis, the concurrence of other pathological symptoms, and the diminishing of symptoms of the torticollis following treatment. RESULTS: In 12/54 (22.2 %) torticollis was first sign of central nervous system tumor and in all of them preceded other neurological symptoms. The time from the onset of torticollis to establishing diagnosis ranged from 2 to 52 weeks (9.6 weeks on average). Eleven of twelve patients were treated surgically--in 10 of them, torticollis disappeared in the postoperative course. CONCLUSIONS: Torticollis may be a herald sign of the tumor of the cervical spinal cord or the posterior fossa. Those pathologies should be considered in the differential diagnosis of the torticollis, particularly if accompanied by other symptoms of the focal pathology of central nervous system. Awareness of this fact may shorten the time to establish the proper diagnosis. Torticollis necessitates exclusion of the posterior fossa and spinal cord tumor.

[Familial case of oral-facial-digital syndrome type 1 (OFD 1)]. / Rodzinny przypadek zespolu ustno-twarzowo-palcowego typu 1 (OFD 1).

UNLABELLED: Ciliopathies are phenotypically and genetically heterogeneous disorders that share ciliary dysfunction as a common pathological mechanism. Ciliary dysfunction results in a broad range of malformations including renal, hepatic and pancreatic cysts, visceral abnormalities, retinal degeneration, anosmia, cerebellar or other brain anomalies, polydactyly, bronchiectasis and infertility. The paper presents a familial case of oral-facial-digital syndrome type 1 in 14 year old girl suspected to polycystic kidney disease. CONCLUSIONS: Molecular testing in daughters of known OFD1 mutation carriers and mothers of affected daughters seems to be reasonable. Not each case of policystic kidney disease which looks like autosomal dominant policystic kiedney disease is actually the above disease. The insight into the pathogenesis of ciliopathies is mandatory for understanding these combined congenital anomaly syndromes of seemingly unrelated symptoms of hepatorenal and pancreatic fibrocystic disease. Close interdisciplinary approach is mandatory in terms of efficient and reliable diagnostic and therapeutic interventions in patients presenting with ciliopathies.

Embryonal tumor with abundant neuropil and true rosettes: an autopsy case-based update and review of the literature.

INTRODUCTION: Embryonal tumor with abundant neuropil and true rosettes (ETANTR) is a rare subtype of primitive neuroectodermal tumors first reported in 2000. It is rare among the group of embryonal central nervous system tumors with approximately 50 reported cases. ETANTR has been suggested to be a separate entity among this group of tumors. CASE REPORT: Herein, we present only the second autopsy case of ETANTR, which occurred in a 17-month-old boy, and was located in the brainstem. The tumor was inoperable, and despite chemotherapy, the child died 3 months after initial hospitalization. A brain only autopsy was performed. DISCUSSION: Neuropathological and neuroimaging examinations suggest ETANTR grew by expansion rather than invasion distorting anatomical structures of the posterior fossa. We suggest that the characteristic histopathological picture of the tumor is the result of multifocal and dispersed germinative activity surrounded by mature neuropil-like areas. CONCLUSION: ETANTR is a pediatric tumor occurring in children under 4 with a significantly poor prognosis with more cases and research required to characterize this rare embryonal tumor.

Diagnostic problems in case of twin pregnancies: US vs. MRI study.

AIM: To present an experience with twin pregnancies underlining the impact of magnetic resonance imaging (MRI) on diagnosis and management. METHODS: There were 17 cases of twin pregnancies: nine monochorionic [including four monochorionic diamniotic and five monochorionic monoamniotic (conjoined twins)] and eight dichorionic. The MRI examinations were performed between 19 and 39 weeks of gestational age in two centers using 1.5 T scanners (GE Signa Excite and GE Signa HDxt; GE Healthcare, Waukesha, WI, USA), always after ultrasound (US). In the first period of our activity, SSFSE sequence in T2-weighted images (SSFSE/T2WI) was the main diagnostic tool supported by TSE or GRE T1-weighted images (T1WI). After upgrading the scanners, diffusion-weighted imaging (DWI), steady-state free precession (FIESTA), and echoplanar GRE imaging (EPIGRE) became available. RESULTS: In 11 cases (64.7%), MRI was superior to US and supplied additional information, including two cases in which pathology of the second twin suspected on US was ruled out on the basis of MRI. In six cases (35.3%) MRI confirmed US diagnosis and brought no new data. CONCLUSION: MRI offers more detailed assessment of fetal pathology in cases of twin pregnancies, including conjoined twins, in which sonographic evaluation is more difficult than in single cases.

[Prenatal MRI as a method of controlling fetal pathology]. / Prenatalne badanie MR jako metoda kontroli patologii plodu.

BACKGROUND: It has been shown that MRI offers the possibility of more detailed assessment of fetal pathology than sonography. It is used not only to diagnose but also to follow up some prenatal diseases. It is a basis of in utero treatment and the tool of monitoring its efficacy The purpose of the study was to present the authors' experience with prenatal MRI as a method of follow-up of fetal pathology and of monitoring invasive fetal therapy MATERIAL AND METHODS: The study group consisted of 31 fetuses that underwent two MRI examinations. The first exams were performed at the gestational age of 19-28 weeks (mean: 23.6 weeks), the follow-up between week 20 and 37 (mean: 30.5). The MRI examinations were performed using 1.5 T scanners. SSFSE/T2-weighted images, TSE/ or GRE/T1-weighted images, DWI, FIESTA, EPIGRE were performed. RESULTS: In 5 cases MRI allowed to exclude a suspected pathology: brain anomaly in a healthy fetus, septo-optic dysplasia in a healthy fetus, right-sided CDH in case of a left-sided pathology pentalogy of Cantrell, lack of bladder in a fetus with a small, thick-walled bladder In 4 cases an additional pathology was detected on MRI: CCAM/ pulmonary sequestration with self-regression, cerebellar hypoplasia, rhombencephalosynapsis, tethered cord with syringohydromyelia. In 4 cases MRI was used just to follow-up and showed evolution of the disease in 2 cases: regression of intracerebral hemorrhage, progression of kidney disease. Finally, in 18 cases MRI was performed before and after an open fetal surgery of myelomeningocele showing good outcome in 10 cases and a wide spectrum of complications in 8 neonates: from edema of the transplant only in 4 to recurrent MC in 1. CONCLUSIONS: Maternal uterus constitutes a natural "incubator" for the fetus--it is easier and safer to perform diagnostic procedure in utero than in a seriously ill newborn. MRI is a method of choice in the diagnosis and of follow-up in cases of open fetal surgery.

[Dysraphic spinal defekt - from diagnostics to therapy]. / Wady rozszczepowe kregoslupa - od diagnostyki do terapii.

Congenital malformations comprise all cases of abnormal fetal develop. ment. Among the most serious ano malies - those of the central nervous system (CNS) - the most common are disrafic disorders, i.e. malformations of neural tube closure. This study is an approach to the problem of congenital malformation diagnostics, in the context of modern prenatal treatment and prognosis.

Development and Validation of a Pediatric MRI-Based Perianal Crohn Disease (PEMPAC) Index-A Report from the ImageKids Study.

BACKGROUND: As part of the prospective multicenter ImageKids study, we aimed to develop and validate the pediatric MRI-based perianal Crohn disease (PEMPAC) index. METHODS: Children with Crohn disease with any clinical perianal findings underwent pelvic magnetic resonance imaging at 21 sites globally. The site radiologist and 2 central radiologists provided a radiologist global assessment (RGA) on a 100 mm visual analog scale and scored the items selected by a Delphi group of 35 international radiologists and a review of the literature. Two weighted multivariable statistical models were constructed against the RGA. RESULTS: Eighty children underwent 95 pelvic magnetic resonance imaging scans; 64 were used for derivation and 31 for validation. The following items were included: fistula number, location, length and T2 hyperintensity; abscesses; rectal wall involvement; and fistula branching. The last 2 items had negative beta scores and thus were excluded in a contending basic model. In the validation cohort, the full and the basic models had the same strong correlation with the RGA (r = 0.75; P < 0.01) and with the adult Van Assche index (VAI; r = 0.93 and 0.92; P < 0.001). The correlation of the VAI with the RGA was similar (r = 0.77; P < 0.01). The 2 models and the VAI had a similar ability to differentiate remission from active disease (area under the receiver operating characteristic curve, 0.91-0.94). The PEMPAC index had good responsiveness to change (area under the receiver operating characteristic curve, 0.89; 95% confidence interval, 0.69-1.00). CONCLUSIONS: Using a blended judgmental and mathematical approach, we developed and validated an index for quantifying the severity of perianal disease in children with CD. The adult VAI may also be used with confidence in children.

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

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.

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

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.

Sporadic Creutzfeldt-Jakob disease: a case report of long disease duration and difficulties in confirming the diagnosis with short literature review.

Creutzfeldt-Jakob disease (CJD) is a spongiform encephalopathy with the fatal outcome, caused by the accumulation of pathological prion protein in the central nervous system (CNS). CJD is classified into four types: sporadic (sCJD), familial or genetic (fCJD), iatrogenic (iCJD) and variant form (vCJD). The recognition of CJD is based on the clinical presentation, neuroimaging, electroencephalography and biochemical tests. The hyperintense signals in basal ganglia on brain magnetic resonance imaging (MRI), periodic sharp and slow wave complexes (PSWCs) in the electroencephalogram as well as presence of neuronal proteins such as protein 14-3-3 in the cerebrospinal fluid (CSF) support the diagnosis. The definite diagnosis of CJD still demands neuropathological confirmation. We report the case of a 56-year-old woman with the rapidly progressive cognitive impairment, motor dysfunctions and the fulminant neurological deterioration to akinetic mutism during the five weeks' hospitalisation. The probable diagnosis of sCJD was based on medical history and characteristic findings in MRI. The positive result of the real-time quaking-induced conversion (RT-QuIC) test and presence of protein 14-3-3 were obtained post-mortem and definite diagnosis was confirmed by neuropathological examination. In this paper we would like to emphasize the difficulties in reaching the diagnosis and the need for a series of diagnostic examinations in different points of time to obtain the confirming results.

The Assessment of the Usefulness of Prenatal Magnetic Resonance Imaging in the Diagnosis of Central Nervous System Defects.

Central nervous system (CNS) abnormalities cause about 40% of infant deaths in the first year of life. In case of the detection of abnormalities by ultrasound, a pregnant woman should be offered prenatal magnetic resonance imaging (pMRI). The aims of our study were: (1) to evaluate the effectiveness of pMRI in the diagnosis of selected fetal CNS defects; and (2) to assess the possibility of replacing postnatal tests with prenatal magnetic resonance. The prospective and observational study was conducted between 2014 and 2017 at the University Hospital in Krakow. Patients with suspected CNS defects of the fetus were qualified for pMRI in the third trimester of pregnancy. Sixty patients were included in the study group. Prenatal MRI was characterized by low accuracy in the diagnosis of complex brain defects. Cohen's kappa coefficient κ = 0.21 (95% CI 0.00-0.46). No evidence was found suggesting the replacement of postnatal tests with pMRI. MRI was characterized by low consistency of diagnoses in the case of complex brain defects. The possibility of replacing postnatal studies with pMRI was not supported.

Persistent notochordal canal imitating compression fracture--plain film, CT and MR appearance.

BACKGROUND: Persistent notochordal canal is a rare developmental anomaly, typically restricted to 1 or 2 vertebral levels, and only in exceptional cases extending over a longer segment. It is usually asymptomatic and discovered incidentally. CASE REPORT: A 30-year-old woman reported to our department for control lumbar spine plain films. About 2 years before, after minor trauma, she had been misdiagnosed on radiograms in another hospital as having a compression L5 vertebra fracture. The assessment of current plain films and analysis of previous radiograms delivered indicated the need for taking a developmental anomaly into consideration. Based on CT and MR of lumbar spine performed, a final diagnosis of a persistent notochordal canal was established. CONCLUSIONS: In spite of its rare occurrence, the characteristic features of a persistent notochordal canal should be known by radiologists, particularly to avoid misinterpretation in post-traumatic patients.