BACKGROUND AND PURPOSE: Fetal MR imaging is part of the comprehensive prenatal assessment of fetuses with open spinal dysraphism. We aimed to assess the reliability of brain stem and posterior fossa measurements; use the reliable measurements to characterize fetuses with open spinal dysraphism versus what can be observed in healthy age-matched controls; and document changes in those within 1 week after prenatal repair. MATERIALS AND METHODS: Retrospective evaluation of 349 MR imaging examinations took place, including 274 in controls and 52 in fetuses with open spinal dysraphism, of whom 23 underwent prenatal repair and had additional early postoperative MR images. We evaluated measurements of the brain stem and the posterior fossa and the ventricular width in all populations for their reliability and differences between the groups. RESULTS: The transverse cerebellar diameter, cerebellar herniation level, clivus-supraocciput angle, transverse diameter of the posterior fossa, posterior fossa area, and ventricular width showed an acceptable intra-and interobserver reliability (intraclass correlation coefficient Ͼ 0.5). In fetuses with open spinal dysraphism, these measurements were significantly different from those of healthy fetuses (all with P Ͻ .0001). Furthermore, they also changed significantly (P value range ϭ .01 to Ͻ .0001) within 1 week after the fetal operation with an evolution toward normal, most evident for the clivus-supraocciput angle (65.9 Ϯ 12.5°; 76.6 Ϯ 10.9; P Ͻ .0001) and cerebellar herniation level (Ϫ9.9 Ϯ 4.2 mm; Ϫ0.7 Ϯ 5.2; P Ͻ .0001). CONCLUSIONS: In fetuses with open spinal dysraphism, brain stem measurements varied substantially between observers. However, measurements characterizing the posterior fossa could be reliably assessed and were significantly different from normal. Following a fetal operation, these deviations from normal values changed significantly within 1 week. ABBREVIATIONS: ACi ϭ atriocerebral index; CHL ϭ cerebellar herniation level; CSA ϭ clivus-supraocciput angle; GA ϭ gestational age; ICC ϭ intraclass correlation coefficient; OSD ϭ open spinal dysraphism; PF ϭ posterior fossa; TCD ϭ transverse cerebellar diameter; TDPF ϭ transverse diameter of the PF; VW ϭ ventricular width
The magnetic resonance imaging (MRI) findings in eight patients with herpes simplex meningoencephalitis were reviewed: 14 examinations were analysed. The most striking finding was high signal intensity in the temporal lobe(s) with the typical configuration known from CT. Meningeal enhancement after Gd-DTPA administration was clearly seen in four patients. Haemorrhagic changes are much better seen on MRI than on CT. When adequate motion control can be achieved, MRI becomes the examination of choice in the diagnosis and follow-up of herpes simplex encephalitis. Localized 1H MR spectroscopy also proved promising in the study of neuronal loss.
Background: Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT). Methods: We studied the clinical, brain imaging, and genetic features of the Belgian cohort of late-onset Pompe disease patients (N = 52), and explored the sensitivity of different outcome measures, during a longitudinal period of 7 years (2010-2017), including the activity limitations ActivLim score, 6 min walking distance (6MWD), 10 m walk test (10MWT), MRC sum score, and forced vital capacity (FVC) sitting/supine. Results: In Belgium, we calculated an LOPD prevalence of 3.9 per million. Mean age at onset of 52 LOPD patients was 28.9 years (SD: 15.8 y), ranging from 7 months to 68 years. Seventy-five percent (N = 39) of the patients initially presented with limb-girdle weakness, whereas in 13% (N = 7) respiratory symptoms were the only initial symptom. Non-invasive ventilation (NIV) was started in 37% (N = 19), at a mean age of 49.5 years (SD: 11.9 y), with a mean duration of 15 years (SD: 10.2 y) after symptom onset. Brain imaging revealed abnormalities in 25% (N = 8) of the patients, with the presence of small cerebral aneurysm(s) in two patients and a vertebrobasilar dolichoectasia in another two. Mean diagnostic delay was 12.9 years. All patients were compound heterozygotes with the most prevalent mutation being c.-32-13 T > G in 96%. We identified two novel mutations in GAA: c.1610_1611delA and c.186dup11. For the 6MWD, MRC sum score, FVC sitting and FVC supine, we measured a significant decrease over time (p = 0.0002, p = 0.0001, p = 0.0077, p = 0.0151), which was not revealed with the ActivLim score and 10MWT (p > 0.05). Conclusions: Awareness on LOPD should even be further increased because of the long diagnostic delay. The 6MWD, but not the ActivLim score, is a sensitive outcome measure to follow up LOPD patients.
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