Abstract
Leptomeningeal glioneuronal heterotopia of the brain stem and cerebral migration abnormality were pathologically reported in Fukuyama congenital muscular dystrophy, but the radiologic assessments of the brain stem and cerebral venous system (which may be involved in the development of the anomaly) were insufficient. Here, we evaluated the brain stem and cerebral veins on MR imaging in patients with Fukuyama congenital muscular dystrophy. We retrospectively reviewed the MR imaging findings of 27 patients with Fukuyama congenital muscular dystrophy. We visually assessed the hypoplasia, superficial structures, and signal intensity of the brain stem on T2WI, FLAIR, and double inversion recovery images and the cerebral, superficial, and deep veins with and without hemorrhage on T2WI and SWI. Brain stem fluffy structures were seen in 96.3% of the cases on T2WI. Superficial high signal intensity on T2WI and FLAIR images was seen in 96.3% and 92.6%, respectively. Abnormally located superficial vessels beneath the cortex were seen in 11.1% on T2WI. Hypoplasia of the superficial cerebral veins was noted in all patients who underwent SWI. Dilated and tortuous subependymal veins were seen in 40.0% on SWI. Hemorrhages were seen in 11.1% on T2WI and in 60.0% on SWI. Superficial brain stem structural and signal abnormalities would be useful MR imaging findings to diagnose Fukuyama congenital muscular dystrophy as well as venous system abnormalities. Clinicians must keep in mind that this disease has a high risk of hemorrhage.
Highlights
MATERIALS AND METHODSWe retrospectively reviewed the MR imaging findings of 27 patients with Fukuyama congenital muscular dystrophy
BACKGROUND AND PURPOSELeptomeningeal glioneuronal heterotopia of the brain stem and cerebral migration abnormality were pathologically reported in Fukuyama congenital muscular dystrophy, but the radiologic assessments of the brain stem and cerebral venous system were insufficient
Patients with Fukuyama congenital muscular dystrophy (FCMD) have generalized muscle weakness, hypotonia, and developmental delay beginning in early infancy
Summary
We retrospectively reviewed the MR imaging findings of the 53 FLAIR images. FCMD at our hospital from 2006 through 2018. Similar pathology is observed in the Hemorrhages were detected on T2WI in 3 of the 27 patients brain stem as well as the cerebral cortex in FCMD. Patient 7 glioneuronal heterotopia and an aberrant pyramidal tract in the showed microhemorrhages in the cerebral and cerebellar cysts brain stem of patients with FCMD have been described.[11] In on SWI. Neuronal clusters that protruded into the subarachnoid space at the Patient 25 showed a hemorrhage in the white matter of the ventrolateral pontine surface were observed; this parenchymal frontal lobe on T2WI (Fig 4). Ripheral hemispheres were identified in 26 patients We observed both abnormally located cortical superficial vessels running through, inside, or beneath the lissencephalic cortex and hypoplasia of superficial cerebral veins around the frontal lobes
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