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.

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.

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.

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.

Magnetic resonance imaging of the fetal central nervous system: Timing and consistency between pre- and postnatal diagnoses.

INTRODUCTION: It has been shown that a proper comparison of prenatal ultrasound and magnetic resonance imaging (MRI) is possible only in the case of a short interval between tests. However, it is worth noting that the reference test is a postnatal examination. The aim of our study was to evaluate the effect of time between prenatal MRI (pMRI) and postnatal examinations on the consistency of diagnoses. MATERIAL AND METHODS: The prospective observational study was carried out between 2014 and 2017 at the Department of Obstetrics and Perinatology of Krakow University Hospital. In total, 60 patients with fetuses suspected of central nervous system (CNS) defects were included in the study group. PMRI examinations were conducted in the third trimester of pregnancy. RESULTS: The median gestational age of pMRI was 35 weeks and median of the time interval between carrying out pre- and postnatal test was 34.5 days. In the group of nonconcordant diagnoses, the interval was longer. The analysis did not show a statistically significant relationship between consistency of diagnoses and timing of pMRI. The median time of pregnancy at which pMRI was performed was similar in both groups. A prolongation of the interval between examinations reduced the probability of consistency of diagnoses. CONCLUSIONS: The number of inaccurate results increased with the prolongation of the interval between pre- and postnatal tests. KEY MESSAGE: Prolongation of the interval between pre- and postnatal increases number of inaccurate results.

Open fetal surgery for myelomeningocele - is there the learning curve at reduction mother and fetal morbidity?

OBJECTIVES: We aimed to show how increased experience of a surgery team in fMMC repair influences maternal and fetal/neonatal outcomes. MATERIAL AND METHODS: We compare perinatal results of fMMC repair in our Fetal Surgery Center (FSC) in cohort groups for the early period (2005-2011 year; previous - PFSC, n = 46) and current period (2012-2015 year; current - CFSC, n = 74) to results of the randomized Management of Myelomeningocele Study (MOMS, 78 patients). RESULTS: The maternal morbidity due to fMMC repair was low and there was no difference comparing CFSC to PFSC and MOMS. The frequency of iatrogenic preterm labor (iPTL) ≤ 30 weeks of gestation decreased from 34.1% in PFSC to 23.9% in CFSC. Iatrogenic preterm premature rupture of membranes (iPPROM) was a common complication after fMMC repair in all cohorts. The total reduction rate of hindbrain hernation (HH) was similar in CFSC - 90.3% and PFSC - 82.1%. CONCLUSIONS: The increasing experience of our surgery team in fMMC repair majorly decreased the risk of iPTL.

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.

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.

Evaluation of changes in biochemical composition of fetal brain between 18th and 40th gestational week in proton magnetic resonance spectroscopy.

INTRODUCTION: The aim of this study is to determine the right 1H MRS spectra of the brain in fetuses of different age, and then to define what metabolic changes occur between 18th and 40th weeks of pregnancy. METHODS: 1H MRS studies of 32 fetuses aged 18-40 gestational weeks were performed, in which the MRI excluded central nervous system malformations. The studied group included 11 fetuses aged 18-25 weeks (the second half of the second trimester), 14 fetuses aged 26-33 weeks (the first half of the third trimester), and seven fetuses aged 34-40 weeks (the second half of the third trimester). The relative ratios of metabolites concentrations to the sum of all metabolites were calculated. RESULTS: Increase in the concentrations of N-acetylaspartate (NAA), Cr, Cho, and myo-inositol (mI) with gestational age is statistically significant. Only increase in Glx is statistically insignificant. In the analyzed period of pregnancy also, an insignificant increase of NAA/Σ and Cr/Σ ratios and a decrease of mI/Σ, Cho/Σ and Glx/Σ ratios were noticed. CONCLUSIONS: Changes in the 1H MRS spectrum are visible with increasing age of the fetus. All studied substances in fetal brain change their concentrations during pregnancy, which may be associated with the synaptic and dendritic development as well as myelination. Knowledge about the chemical changes in the fetal brain can provide valuable information in studies of the mechanisms of pregnancy and fetal development, define steps of brain metabolic development and explain reasons of pathologies.

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."

Screening performance for callosal agenesis in prenatal life. Single center study.

OBJECTIVES: 1) To analyze screening performance of second trimester scan for ACC, 2) to evaluate the agreement between ultrasound and MRI and 3) to compare prenatal and postnatal diagnosis. METHODS: It was a prospective observational study. All patients with fetuses suspected of ACC were referred to prenatal MRI (pMRI). RESULTS: One subject was not confirmed by pMRI with the diagnosis of ACC. This case demonstrated partial ACC in neonatal MRI (nMRI). CONCLUSION: Sensitivity of second trimester scan for callosal agenesis of 73% and specificity of 99%. Prenatal MRI and US has similar amount of misdiagnoses.

Microstructure changes of occipital white matter are responsible for visual problems in the 3-4-year-old very low birth weight children.

PURPOSE: The main aim of the study was to evaluate which factors affect the long-time visual function in preterm children, whether it is prematurity or retinopathy of prematurity or perhaps disturbances in the visual pathway. MATERIALS AND METHODS: Fifty-eight children with mean birth weight 1016 g (range 520-1500 g) were evaluated at mean age 48 months (range 42-54 months). All children underwent magnetic resonance imaging (MRI) studies, visual evoked potentials (VEPs), and the Developmental Test of Visual Perception (DTVP). The MRI evaluation included diffusion tensor imaging and fractional anisotropy (FA), and colored orientation maps were calculated for each subject. Based on the results of the VEP evaluation, children were divided into two groups: A-abnormal results of VEP (n = 16) and B-normal VEP results (comparison group, n = 42). RESULTS: FA values of inferior left and right occipital white matter (OWM) were lower in the group of children with abnormal VEP compared to the comparison group (0.34 ± 0.06 vs. 0.38 ± 0.06; P = 0.047; 0.31 ± 0.04 vs. 0.36 ± 0.06; P = 0.007, respectively). Furthermore, there were correlations between the latency (r = -0.35; P = 0.01) and amplitude (r = 0.31; P = 0.02) and FA in OWM. Children with abnormal VEP had lower DTVP scores as compared with children with normal VEP results (88 ± 18 vs. 95 ± 16 points, P = 0.048). Finally, a multivariate logistic regression revealed that FA of the inferior OWM was the only independent risk factor for the abnormal VEP (P = 0.04). CONCLUSION: Visual perception, VEPs, and white matter microstructural abnormalities in very low birth weight children at the age of 3-4 are significantly correlated.

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.

Paraneoplastic limbic encephalitis in a patient with extensive disease small-cell lung cancer.

Paraneoplastic limbic encephalitis (PLE) is a rare disorder infrequently accompanying malignancy, coexisting in ~50% of the cases with small-cell lung cancer (SCLC). The pathomechanism of PLE is considered to be immune-mediated, with production of specific anti-Hu antibodies and activation of T-cells directed against onconeural antigens present on both tumor cells and neurons. We herein report the case of a 50-year-old male patient who, prior to being diagnosed with SCLC, presented with typical symptoms of PLE (seizures, subacute cognitive dysfunction with severe memory impairment, anxiety and hallucinations). The initial brain magnetic resonance imaging examination revealed mild enlargement and hyperintensity of the hippocampal gyri bilaterally, with narrowed temporal horns of the lateral ventricles; the findings of the cerebrospinal fluid examination were compatible with the diagnosis of lymphocytic meningitis. Due to the suspected infectious origin of the disease, treatment with acyclovir and antibiotics was initially applied. However, following subsequent diagnosis of the underlying SCLC and the presence of antineuronal anti-Hu antibodies in the patient's serum, the diagnosis of PLE accompanying extensive-disease (ED) SCLC was confirmed. In addition to the standard cytotoxic therapy, throughout the course of his disease the patient also continued treatment with valproic acid (VPA) as prophylaxis for the initial seizures. VPA is known to be a potent histone deacetylase inhibitor that may reverse epigenetic changes in tumor cells and potentially improve the outcome of cancer patients. The patient succumbed to the disease 25 months after the diagnosis of malignancy; such a long course is observed in only ~5% of patients with ED SCLC. Therefore, it was hypothesized that the accompanying paraneoplasia and treatment with VPA may have improved the outcome in this patient.

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.

Augmentative and Alternative Communication (AAC) for a patient with a nonfluent/agrammatic variant of PPA in the mutism stage.

INTRODUCTION: The paper presents an example of the successful administration of the Augmentative and Alternative Communication (AAC) system. Such an approach is of particular significance in cases of patients with speech and language deterioration, which is observed in a nonfluent/agrammatic variant of primary progressive aphasia (PPA-G). Regaining the ability to communicate with others proves to be very important for the patients' self-esteem and enables them to restore previously broken social bonds. CASE HISTORY: The patient A.G., aged 73, a right-handed woman, had been a teacher of Polish before suffering from speech disorders of the PPA-G type. As the disease progressed, her communication deteriorated and finally she developed mutism. The patient was given a clinical and imaging-supported diagnosis of an isolated nonfluent/ agrammatic variant of primary progressive aphasia (PPA-G). The Augmentative and Alternative Communication (AAC) system specially designed for her needs was introduced to help the patient to regain the possibility to communicate. After 20 sessions of training with the use of simple equipment she was again able to communicate non-verbally with her son and with the staff of the nursing home. At the same time, a considerable improvements in her social functioning, including daily activities, was observed. CONCLUSIONS: Loss of the ability to communicate with others has a serious impact upon a patient's quality of life, and often results in withdrawal and an inability to lead an independent life. The introduction of the Augmentative and Alternative Communication (AAC) system proves to be a great help, not only for regaining the ability to communicate, but also for the restoration of social bonds. In consequence, the previously mute patient begins to show signs of social cooperation.

Relationship between Stereoscopic Vision, Visual Perception, and Microstructure Changes of Corpus Callosum and Occipital White Matter in the 4-Year-Old Very Low Birth Weight Children.

AIM: To assess the relationship between stereoscopic vision, visual perception, and microstructure of the corpus callosum (CC) and occipital white matter, 61 children born with a mean birth weight of 1024 g (SD 270 g) were subjected to detailed ophthalmologic evaluation, Developmental Test of Visual Perception (DTVP-3), and diffusion tensor imaging (DTI) at the age of 4. RESULTS: Abnormal stereoscopic vision was detected in 16 children. Children with abnormal stereoscopic vision had smaller CC (CC length: 53 ± 6 mm versus 61 ± 4 mm; p < 0.01; estimated CC area: 314 ± 106 mm(2) versus 446 ± 79 mm(2); p < 0.01) and lower fractional anisotropy (FA) values in CC (FA value of rostrum/genu: 0.7 ± 0.09 versus 0.79 ± 0.07; p < 0.01; FA value of CC body: 0.74 ± 0.13 versus 0.82 ± 0.09; p = 0.03). We found a significant correlation between DTVP-3 scores, CC size, and FA values in rostrum and body. This correlation was unrelated to retinopathy of prematurity. CONCLUSIONS: Visual perceptive dysfunction in ex-preterm children without major sequelae of prematurity depends on more subtle changes in the brain microstructure, including CC. Role of interhemispheric connections in visual perception might be more complex than previously anticipated.

[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.