Kawasaki Disease Complicated with Cerebral Vasculitis and Severe Encephalitis.

We report a case of a 7-year-old boy with Kawasaki disease (KD) complicated with cerebral vasculitis and encephalitis. The patient was admitted with signs of encephalopathy, seizures, and coma. The diagnosis of KD was made on the 2nd day of hospitalization based on the clinical features (fever >5 days, maculopapular rash, nonpurulent conjunctivitis, fissured lips, and cervical adenopathy). Brain magnetic resonance imaging findings suggested cerebral vasculitis. Treatment with intravenous immunoglobulin was followed by mild improvement. After a single dose of immunoglobulin, pulse methylprednisolone therapy was started resulting in gradual improvement of consciousness and eventual complete motor and cognitive function recovery with regression of brain magnetic resonance lesions. KD can present with marked neurological symptomatology. Therefore, it should be considered in the differential diagnosis of encephalitis and encephalopathy etiologies in children.

Clinical and genetic landscape of treatment naive cervical cancer: Alterations in PIK3CA and in epigenetic modulators associated with sub-optimal outcome.

BACKGROUND: There is a lack of information as to which molecular processes, present at diagnosis, favor tumour escape from standard-of-care treatments in cervical cancer (CC). RAIDs consortium (www.raids-fp7.eu), conducted a prospectively monitored trial, [BioRAIDs (NCT02428842)] with the objectives to generate high quality samples and molecular assessments to stratify patient populations and to identify molecular patterns associated with poor outcome. METHODS: Between 2013 and 2017, RAIDs collected a prospective CC sample and clinical dataset involving 419 participant patients from 18 centers in seven EU countries. Next Generation Sequencing has so far been carried out on a total of 182 samples from 377 evaluable (48%) patients, allowing to define dominant genetic alterations. Reverse phase protein expression arrays (RPPA) was applied to group patients into clusters. Activation of key genetic pathways and protein expression signatures were tested for associations with outcome. FINDINGS: At a median follow up (FU) of 22 months, progression-free survival rates of this FIGO stage IB1-IV population, treated predominantly (87%) by chemoradiation, were65•4% [CI95%: 60•2-71.1]. Dominant oncogenic alterations were seen in PIK3CA (40%), while dominant suppressor gene alterations were seen in KMT2D (15%) and KMT2C (16%). Cumulative frequency of loss-of-function (LOF) mutations in any epigenetic modulator gene alteration was 47% and it was associated with PIK3CA gene alterations in 32%. Patients with tumours harboring alterations in both pathways had a significantly poorer PFS. A new finding was the detection of a high frequency of gains of TLR4 gene amplifications (10%), as well as amplifications, mutations, and non-frame-shift deletions of Androgen receptor (AR) gene in 7% of patients. Finally, RPPA protein expression analysis defined three expression clusters. INTERPRETATION: Our data suggests that patient population may be stratified into four different treatment strategies based on molecular markers at the outset. FUND: European Union's Seventh Program grant agreement No 304810.

[Ultrasonography and magnetic resonance imaging in prenatal diagnosis of tumour of the foetal head and neck].

INTRODUCTION: Foetal tumours are relatively rare; prenatal diagnosis enables additional diagnostics, and thus the decision on the continuation of pregnancy and planning of delivery. The paper presents prenatal ultrasound diagnostics of foetal head tumour with additionally analyzed magnetic resonance imaging (MRI). CASE OUTLINE: On ultrasound imaging, in a 27-year-old nullipara, a tumour of the foetal head was suspected at the 22nd gestational week. By consultative ultrasound, a 45 x 41 x 50 mm echogenic soft tissue tumour with hypoechogenic areas was confirmed, which originated from the left side of the skull spreading towards the neck on the left behind the ear. On colour Doppler no vascularisation was seen within the tumour but several vessels were seen along the border-line and on the surface. The scan showed no associated abnormalities. Karyotype was 46, XY. MRI scan using triplanar SSFSE and HASTE sequences was done at 26 weeks and confirmed a 84 x 45 x 71 mm tumour originating from the scalp, spreading along the endocranium over the entire surface of the fronto-temporal sqama and left parietal bone. The tumour did not disturb the integrity of the internal tabula, and did not spread intracranially. Based on these findings, the diagnosis of haemangioma was made. At 38 weeks gestation, a 3810 g male infant was delivered by Caesarean section. A bluish, well-defined, non-pulsatile tumour arising from the left frontoparietal region was seen, thus confirming the diagnosis of haemangioma. CONCLUSION: MRI improved delineation of the tumour facilitating better planning of postnatal management and mode of delivery, with the information on the postnatal course and prognosis. In the prenatal period, MRI following an ultrasound diagnosed foetal tumour, is an additional part of diagnostic examinations, and is not contraindicated during pregnancy.

[Functional magnetic resonance imaging of cortical changes in a low-grade glioma patient].

INTRODUCTION: New methods for studying brain functions have provided the new insights into human brain. It is really possible to study a cortical adaptation in adults who have sustained injury. We reported cortical changes in a left frontal low-grade glioma patient during disease progression and after reoperation by functional magnetic resonance imaging (fMRI). CASE REPORT: The use of fMRI exams for localisation of eloquent motor and language areas were performed three times in a period of 15 months: seven years after initial tumor resection, eleven months later and three months after the reoperation. The first fMRI demonstrated cortical activation for motor tasks in the expected location of primary motor area while later examinations showed activations of both primary motor areas for right hand movement. The first exam language evaluation showed the left hemisphere dominance for both language tasks, while the second fMRI demonstrated the right hemisphere dominance for complex word generation task, but the left hemisphere remained dominant in simple language task. After the reoperation, language mapping revealed the left hemisphere dominance for both language tasks. CONCLUSION: fMRI evaluation of cortical changes in low-grade glioma patients may additionally optimize and individualize neurosurgical treatment.

Intrauterine treatment of large fetal neck lymphangioma with OK-432.

Lymphangiomas are benign vascular malformations of the lymphatic system and most commonly present in the neck area. Large lymphangiomas may compress and/or displace the larynx, trachea and esophagus and cause serious respiratory and feeding problems in neonates. Prenatal therapy could eliminate the risks of the mentioned complications. Prenatal therapy may include the EXIT (ex utero intrapartum treatment) procedure. As this procedure has certain risks for both the neonate and mother, the introduction of a safer method is justified. The use of OK-432, as a sclerosing agent, has shown positive results in several published cases of cystic hygroma, but there is no study about the prenatal use of this agent in the treatment of lymphangioma. The aim of this study was to present our experience with intrauterine intralesional injection of OK-432 in the treatment of neck lymphangiomas. Two cases of large multicystic neck lymphangiomas that were closely situated to the fetal airway were treated by single intralesional injection of OK-432. We noticed a progressive decrease in tumor volume throughout gestation. We did not experience any complications and there were no respiratory or feeding problems in the neonates. The esthetical appearance was satisfactory and both children were normal at the age of 2 years and 6 months, respectively. This report suggests that prenatal intralesional injection of OK-432 might be a safe and effective treatment in selected cases with large fetal neck lymphangiomas.

Transient cortical blindness following vertebral angiography in a young adult with cerebellar haemangioblastoma.

Transient cortical blindness is reported to occur in 0.3% to 1% of cerebral angiography procedures. It develops within minutes of contrast medium injection and lasts for up to several days. We report a long episode of transient cortical blindness in a 17-year-old boy with cerebellar haemangioblastoma, which started during the preoperative vertebral angiography and lasted for 5 days. CT performed 2 days after the sudden onset of bilateral visual loss showed multiple asymmetrical lesions within the brain parenchyma in the distribution of the posterior cerebral circulation. Even though the patient's vision was completely restored 5 days after angiography, repeat MRI performed 2 months after angiography showed improvement but with residual lesions in the thalami, cerebellum and occipital lobe.

Prenatal diagnosis of posterior fossa anomalies--an overview.

Ultrasonography of the central nervous system is an integral part of a prenatal scan, and the development of imaging technologies has led to better diagnostic possibilities. Posterior fossa anomalies have traditionally been divided into Dandy Walke malformation, Dandy Walker variation and megacisterna magna, but this approach, due to diversity of the extensive number of possible disorders covered by this classification, unables accurate prognosis and therefore adequate counselling. An alternative approach to the classification of posterior fossa anomalies is to divide them into agenesis of the vermis, which could be partial or complete, cerebellar hypoplasia, pontocerebellar hypoplasia and cerebellar atrophy. Different ultrasonographic and magnetic resonance imagining of appearances of the posterior fossa anomalies in prenatal period are discussed in the article, as well as possible syndromes and prognosis of different entities. Diversity of anomalies of the central nervous system, and in particular, subtle differences in prenatal appearances of posterior fossa anomalies, which may have major impact on the prognosis, demand a multidisciplinary approach that encompasses two-dimensional and three-dimensional ultrasound scan, magnetic resonance imaging, infectious diseases and metabolic disorders work-ups as well as individual approach to every case involving of a team of experts in the field of perinatology, radiology, paediatrics, neurology and genetics.

[Prenatal diagnosis of granular cell myoblastoma--a case report].

INTRODUCTION: The aim of this paper is to present a case of prenatal diagnosis of a congenital tumor of the oral cavity diagnosed at 28 weeks of gestation. CASE REPORT: After the diagnosis of oral cavity tumor was made by 21) ultrasound, a 3D scan was performed, which confirmed the diagnosis revealing a peduncle at the upper border of maxilla. A detailed scan was performed and no additional anomalies were seen. Magnetic resonance imaging was performed, confirming the diagnosis and the site of the tumor. Karyotype was previously done, and a normal female karyotype was found. Regular three-week follow-up scans were performed to follow the growth of the tumor, as well as the state of the amniotic fluid. No tumor growth was detected, and the amniotic fluid volume was normal until 39 weeks of gestation. Cesarean section was scheduled, due to the risk of tumor disruption during a vaginal delivery. A maxillofacial surgeon was present during an uneventful cesarean section and a complete surgical excision was done immediately after the baby was extracted and umbilical cord ligated. The histopathological diagnosis was: granular cell myoblastoma. The female newborn was developing normally, and at 5 months of age there were no traces of scarring at the place of the tumor. CONCLUSION: In cases of prenatal diagnosis of tumors of the oral cavity, where development of polyhydramnios can be expected, as well as difficulties with feeding and breathing after birth, it is important to make a plan for adequate follow-up and prompt surgical treatment immediately after birth.