Conservative management of complete fetal expulsion into the abdominal cavity after silent uterine rupture - case report.

BACKGROUND: Clinically silent uterine rupture with complete fetal expulsion into the abdominal cavity is an extremely rare complication. Diagnosis can be difficult and the risk to the mother and fetus is high. Conservative management has been described only in a few cases of partial expulsion of the fetus so far. CASE PRESENTATION: We present a case of 43-year-old tercigravida with a history of previous laparotomic myomectomy and subsequent cesarean section. The subsequent pregnancy was complicated by uterine wall loosening and rupture at the site of the previous uterine scar after myomectomy and complete fetal expulsion into the abdominal cavity. The diagnosis was made at 24 + 6 weeks of gestation. Considering the absence of clinical symptomatology and the good condition of the fetus, a conservative approach was chosen with intensive monitoring of the maternal and fetal conditions. The pregnancy ended by elective cesarean section and hysterectomy at 28 + 0 weeks of gestation. The postpartum course was uneventful and the newborn was discharged to home care 63 days after delivery. CONCLUSIONS: Fetal expulsion into the abdominal cavity after silent uterine rupture of the scarred uterus may be accompanied by minimal symptomatology making early diagnosis difficult. This rare complication must be considered in the differential diagnosis in women after major uterine surgery. In selected cases and under conditions of intensive maternal and fetal monitoring, conservative management may be chosen to reduce the risks associated with prematurity.

Cerebrovascular Complications of COVID-19 Disease in Children: A Single-Center Case Series.

This work presents a case series of four children diagnosed with severe cerebrovascular disease in association with recent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, yet no patient from the group met typical diagnostic criteria for multisystem inflammatory syndrome in children. Our aim was to highlight the possible vascular involvement and coagulopathies associated with SARS-CoV-2 infection in the pediatric population. Further data are needed to better understand the pathophysiological basis of this condition in children and to ensure its optimal management.

POLR3B-associated leukodystrophy: clinical, neuroimaging and molecular-genetic analyses in four patients: clinical heterogeneity and novel mutations in POLR3B gene.

INTRODUCTION AND AIM OF THE STUDY: White matter disorders represent a spectrum of neurological diseases frequently associated with an unfavourable prognosis and a delay in diagnostics. We report the broad phenotypic spectrum of a rare hypomyelinating leukodystrophy and three novel mutations. Further, we aim to explore the role of the combined clinical and neuroimaging diagnostic approach in the era of whole exome sequencing. MATERIALS AND METHODS: We present a clinical, neuroimaging and molecular-genetic characterisation of four patients from three families suffering from a rare genetic leukoencephalopathy. Two severely affected siblings (P1, P2) manifested a profound developmental delay, cerebellar symptomatology, microcephaly, failure to thrive, short stature and delayed teeth eruption with oligodontia. The other two patients (P3, P4), on the contrary, suffer from substantially less serious impairment with mild to moderate developmental delay and cerebellar symptomatology, delayed teeth eruption, or well-manageable epilepsy. In all four patients, magnetic resonance revealed cerebellar atrophy and supratentorial hypomyelination with T2-weight hypointensities in the areas of the ventrolateral thalamic nuclei, corticospinal tract and the dentate nuclei. RESULTS: Using whole-exome sequencing in P1, P2 and P3, and targeted sequencing in P4, pathogenic variants were disclosed in POLR3B, a gene encoding one of 17 subunits of DNA-dependent RNA polymerase III - all patients were compound heterozygotes for point mutations. Three novel mutations c.727A>G (p.Met243Val) and c.2669G>A (p.Arg890His) (P1, P2), and c.1495G>A (p.Met499Val) (P3) were found. Magnetic resonance revealed the characteristic radiological pattern of POLR3-leukodystrophies in our patients. CONCLUSION AND CLINICAL IMPLICATIONS: The diagnosis of POLR3-associated leukodystrophies can be significantly accelerated using the combined clinical and neuroradiological recognition pattern. Therefore, it is of crucial importance to raise the awareness of this rare disorder among clinicians. Molecular-genetic analyses are indispensable for a swift diagnosis confirmation in cases of clear clinical suspicion, and for diagnostic search in patients with less pronounced symptomatology. They represent an invaluable tool for unravelling the complex genetic background of heritable white matter disorders.

Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods.

PURPOSE: Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy syndrome characterized by focal seizures with dominant auditory symptomatology. We present a case report of an 18-year-old patient with acute onset of seizures associated with epilepsy. Based on the clinical course of the disease and the results of the investigation, the diagnosis of ADLTE with a proven mutation in the RELN gene, which is considered causative, was subsequently confirmed. The aim of this study was to use 3 Tesla (3 T) magnetic resonance imaging (MRI) and advanced neuroimaging methods in a patient with a confirmed diagnosis of ADTLE. METHODS: 3 T MRI brain scan and advanced neuroimaging methods were used in the standard protocols to analyzse voxel-based MRI, cortical thickness, and functional connectivity. RESULTS: Morphometric MRI analysis (blurred grey-white matter junctions, voxel-based morphometry, and cortical thickness analysis) did not provide any informative results. The functional connectivity analysis revealed higher local synchrony in the patient in the left temporal (middle temporal gyrus), left frontal (supplementary motor area, superior frontal gyrus), and left parietal (gyrus angularis, gyrus supramarginalis) regions and the cingulate (middle cingulate gyrus) as compared to healthy controls. CONCLUSIONS: Evidence of multiple areas of functional connectivity supports the theory of epileptogenic networks in ADTLE. Further studies are needed to elucidate this theory.

Laryngeal mask airway Unique™ position in paediatric patients undergoing magnetic resonance imaging (MRI): prospective observational study.

BACKGROUND: Laryngeal mask UNIQUE® (LMAU) is supraglottic airway device with good clinical performance and low failure rate. Little is known about the ideal position of the LMAU on the magnetic resonance imaging (MRI) and whether radiological malposition can be associated with clinical performance (audible leak) in children. The primary aim of the study was to evaluate incidence of the radiologic malposition of the LMAU according to size. The secondary outcome was the clinical performance and associated complications (1st attempt success rate, audible leak) in LMAUs in correct position vs. radiologically misplaced LMAUs. METHODS: In prospective observational study, all paediatric patients undergoing MRI of the brain under general anaesthesia with the LMAU were included (1.9.2016-16.5.2017). The radiologically correct position: LMAU in hypopharynx, proximal cuff opposite to the C1 or C2 and distance A (proximal cuff end and aditus laryngis) ≤ distance B (distal cuff end and aditus laryngis). Malposition A: LMAU outside the hypopharynx. Malposition B: proximal cuff outside C1-C2. Malposition C: distance A ≥ distance B. We measured distances on the MRI image. Malposition incidence between LMAU sizes and first attempt success rate in trainees and consultant groups was compared using Fisher exact test, difference in incidence of malpositions using McNemar test and difference in leakage according to radiological position using two-sample binomial test. RESULTS: Overall 202 paediatric patients were included. The incidence of radiologically defined malposition was 26.2% (n = 53). Laryngeal mask was successfully inserted on the 1st attempt in 91.1% (n = 184) cases. Audible leak was detected in 3.5% (n = 7) patients. The radiologically defined malposition was present in 42.9% (n = 3) cases with audible leak. The rate of associated complications was 1.5% (n = 3): laryngospasm, desaturation, cough. In 4.0% (n = 8) the LMAU was soiled from blood. Higher incidence of radiological malposition was in LMAU 1.0, 1.5 and LMAU 3, 4 compared to LMAU 2 or LMAU 2.5 (p < 0.001). CONCLUSION: Malposition was not associated with impaired clinical performance (audible leak, complications) of the LMAU or the need for alternative airway management. TRIAL REGISTRATION: Clinicaltrials.gov  (NCT02940652) Registered 18 October 18 2016.