Rhombencephalosynapsis is an anomaly of the hindbrain characteristically presenting with cerebellar fusion and absence of cerebellar vermis on magnetic resonance imaging. Its association with spinal anomalies has not been reported previously. We report a unique case, a 22-year-old man with cerebellar fusion associated with a cervicothoracic meningomyelocele, diastematomyelia, tethering of the spinal cord, and dorsal dermal sinuses. In addition, cerebellar tonsillar herniation and tectal beaking similar to that seen in Chiari II malformations were present. These findings suggest that rhombencephalosynapsis can be associated with spinal malformations and, furthermore, that cases with the common features of rhombencephalosynapsis and a Chiari II malformation can exist. Such an association likely represents a new anomaly of the hindbrain and spine.
BackgroundTemporomandibular joint (TMJ) arthritis is seen very often (38–87 %) in children with juvenile idiopathic arthritis (JIA). With contrast enhanced magnetic resonance imaging (MRI) we can detect more cases of TMJ arthritis than ever before. Previous studies show that HLA II class alleles may have protective or risk importance in JIA subtypes. Our objective is to identify HLA II class alleles of risk and protection in JIA patients with TMJ arthritis.MethodsDuring the period from 2010 to 2015 MRI for TMJ was performed in 85 JIA patients who were genotyped for HLA- DRB1; DQB1 and DQA1 using RT-PCR with sequence-specific primers. As a control group, data of 100 individuals were taken from the genetic bank of RSU Joint Laboratory of Clinical Immunology and Immunogenetics. Associations of DRB1; DQB1; DQA1 alleles in patients were examined individually using the χ2 test. P-value (<0.05) and odds ratio were calculated using EPI INFO 6.0 software.ResultsOut of 85 JIA patients with mean age of 13.7 ± 3.0 years (range 6.9–17.9 years), 59 (69 %) were girls and 26 (31 %) were boys. The mean duration of the disease was 3.07 ± 2.35 years (range 0.2–11.0 year). JIA subtypes were as follows: seronegative polyarthritis 51 (60 %), seropositive polyarthritis 6(7 %), oligoarthritis extended 7(8 %), oligoarthritis persistent 2 (2 %) arthritis with enthesitis 14 (17 %), undifferentiated 3 (4 %) and 2 (2 %) systemic arthritis. Two groups where separated after TMJ MRI exam: first with at least two signs of active inflammation and/or any structural damage (n = 62); second with no pathologic signs or with slight contrast enhancement (n = 23). We discovered that there are risk alleles that are found in all JIA patient’s groups (MRI positive and negative groups) versus controls such as DRB1*07:01, DQB1*03:03; DQB1*05:01. Also some protective alleles as DRB1*18:01, DQB1*06:02–8 were found in overall JIA group. Alleles DRB1*12:01, DQB1*03:01; DQA1*05:01 were found to be protective for TMJ arthrits.ConclusionIn our study there were no convincing risk alleles, but there are alleles that probably are protective for TMJ arthritis like DRB1*12:01, DQB1*03:01; DQA1*05:01.
Frequency and preciseness of prenatal detection of foetal tumours increases due to improvement of sophisticated imaging methods. As correct diagnosis impacts the course of care in utero, it is essentially to improve diagnostic workout in a case of detected foetal anomalies. Here we report the case of partly involuting congenital haemangioma of foetus, which antenataly caused foetal secondary cardiomegaly. Pregnant woman was referred to Riga Maternity Hospital with unexplained tumour on the surface of foetal head at 24+2 weeks of gestation. Ultrasound exam revealed tubular structure without solid components between calvarium and skin under the left ear with very rich vascularization. Magnetic Resonance Image demonstrated enhancing multi-cystic lobulated mass. Hypertrophic secondary cardiomegaly was present without any additional structural abnormality. The foetus remained stable until 36+4 weeks of gestation, when the size of tumour succeeded 85 mm × 46 mm. Haemangioma was confirmed after delivery as round raised and infiltrating vascular lesion. After birth MRI demonstrated its connection with a. carotis externa. Propranolol was recommended with continuing follow-up. At 2 years and 3 months of age the lesion decreased by size noticeably, but still persists. Accurate diagnosis lets obstetricians to optimize antenatal care by providing an opportunity for planning deliveries, preparing family and medical staff for appropriate postpartum therapy and management.
91Summary. Acute demyelination may present as a rapidly expanding space-occupying or tumefactive lesion (TDL). Tumefactive demyelinating lesions are misdiagnosed quite frequently and can result in unnecessary and potentially harmful surgical resection, radiation or toxic chemotherapeutic interventions therapy. Systematic literature review from available articles and abstracts in PubMed database was summarized in purpose to describe typical presentation and diagnostically challenging features of TDL. One clinical case report presenting tumor-like lesion of the brain, when the diagnosis of TDL was established, is added as an illustrative material.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.