ABSTRACT
BACKGROUND: SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6. Heterozygous SYNGAP1 gene mutations have been associated with autism spectrum disorders, delay of psychomotor development, acquired microcephaly, and several forms of idiopathic generalized epilepsy. Here, we report a patient with a new SYNGAP1 stop mutation, and compare the phenotype with published cases with SYNGAP1 mutations and epilepsy. PATIENT: This 15-year-old nondysmorphic girl with intellectual disability developed drop attacks at the age of 2 years, later clonic and clonic-tonic as well as myoclonic seizures predominantly during sleep. The epilepsy was well-controlled by valproic acid (VPA) and later on with levetiracetam. Electroencephalogram (EEG) showed a complete EEG-normalization with eye opening as well as photosensitivity. Magnetic resonance imaging was normal. Genetic analysis revealed a de novo heterozygous stop mutation (c.348C>A, p.Y116*) in exon 4 of the SYNGAP1 gene. DISCUSSION: The main clinical features of our patient (i.e., intellectual disability and idiopathic epilepsy) are compatible with previous reports on patients with SYNGAP1 mutations. The unusual feature of complete EEG normalization with eye opening has not been reported yet for this genetic abnormality. Furthermore, our case provides further support for efficacy of VPA in patients with SYNGAP1 mutation-related epilepsy.
Subject(s)
Epilepsies, Partial/diagnosis , Epilepsies, Partial/genetics , Epilepsy, Generalized/diagnosis , Epilepsy, Generalized/genetics , ras GTPase-Activating Proteins/genetics , Adolescent , Brain/physiopathology , Epilepsies, Partial/complications , Epilepsy, Generalized/complications , Female , Humans , MutationABSTRACT
PURPOSE: To evaluate the intra- and inter-rater reliability of the quantification of blood and CSF flow rates by phase contrast MRI. MATERIALS AND METHODS: Blood and CSF flows in the upper cervical region were imaged with velocity-encoded cine-phase contrast using 3T scanners from different manufacturers at two centers. Data of 6 subjects scanned in center A and of 5 subjects in center B were analyzed by six readers at two levels of training. Each data set was analyzed three times in a randomized order for a total of 33 data sets. Intra-class correlation coefficients (ICC) were calculated for the primary measurements of areas and flow rates through the main cervical arteries, veins and the CSF space, and for secondary parameters derived from the individual flow rates. RESULTS: ICC ranged from 0.80 to 0.96 for the lumen area and from 0.97 to 0.99 for the volumetric flow rate. The ICC for the derived secondary measures ranged from 0.85 to 0.99. Differences due to operator level of training were not statistically significant. CONCLUSION: High intra- and inter-rater reliability of volumetric flow rate measurements is currently achievable across manufacturers and users' skill levels with a pulsatility based automated lumen segmentation.
Subject(s)
Cerebrospinal Fluid/cytology , Cerebrospinal Fluid/physiology , Cerebrovascular Circulation/physiology , Magnetic Resonance Angiography/methods , Adolescent , Adult , Blood Flow Velocity/physiology , Child , Female , Germany , Humans , Male , Middle Aged , Observer Variation , Reproducibility of Results , Sensitivity and Specificity , Young AdultABSTRACT
OBJECTIVE: To investigate the role of transcranial magnetic stimulation (TMS) to differentiate between idiopathic facial nerve palsy (iFNP) and facial nerve palsy due to borreliosis (bFNP). PATIENTS AND METHODS: Transcranial and intracanalicular magnetic and peripheral electrical stimulation of the facial nerve together with clinical grading according to the House and Brackmann scale were performed in 14 children and adolescents with facial palsy (median age 11.5 yr, range 4.6-16.5 yr). Serum and cerebrospinal fluid (CSF) were evaluated for antibodies against Borrelia burgdorferi and CSF cell count, glucose and protein content were screened with methods of routine laboratory testing. Data of patients were compared with normal values established in 10 healthy subjects (median age 10.2 yr, range 5.1-15.3 yr). RESULTS: Patients with iFNP showed a significant decrease in MEP amplitude to canalicular magnetic stimulation compared with healthy controls (p=0.03). However, MEP amplitude did not discriminate sufficiently between the two groups, because the ranges of dispersion of MEP amplitudes overlapped. Patients with bFNP had normal MEP amplitudes to canalicular magnetic stimulation compared with normal subjects. CONCLUSION: Diagnostic assessment by TMS failed to provide a reliable diagnostic criterion for distinguishing between iFNP and bFNP in children and adolescents.
