PURPOSE: To determine the MR appearance of cerebellar abnormalities in Fukuyama congenital muscular dystrophy. METHODS: We reviewed brain MR images of 25 patients with Fukuyama congenital muscular dystrophy and examined the autopsy specimens of a 23-month-old girl with the disease to determine the pathologic nature of the MR findings. RESULTS: MR studies revealed two characteristic cerebellar abnormalities: (a) disorganized cerebellar folia (16 cases) that were recognized as unusual distortions of the cortex; and (b) clusters of intraparenchymal cysts (23 cases). The two lesions were located close to each other, and milder lesions tended to affect only the superior semilunar lobule. The autopsy specimen revealed small cerebellar cysts, which consisted of dilated subarachnoid spaces buried beneath the malformed cortex. CONCLUSION: The disorganized folia represent cerebellar polymicrogyria, and the presence of cerebellar cysts is related to the polymicrogyria. These two MR changes are often present in Fukuyama congenital muscular dystrophy and are distinct enough to suggest the radiologic diagnosis.
PURPOSE: To determine the MR appearance of cerebellar abnormalities in Fukuyama congenital muscular dystrophy. METHODS: We reviewed brain MR images of 25 patients with Fukuyama congenital muscular dystrophy and examined the autopsy specimens of a 23-month-old girl with the disease to determine the pathologic nature of the MR findings. RESULTS: MR studies revealed two characteristic cerebellar abnormalities: (a) disorganized cerebellar folia (16 cases) that were recognized as unusual distortions of the cortex; and (b) clusters of intraparenchymal cysts (23 cases). The two lesions were located close to each other, and milder lesions tended to affect only the superior semilunar lobule. The autopsy specimen revealed small cerebellar cysts, which consisted of dilated subarachnoid spaces buried beneath the malformed cortex. CONCLUSION: The disorganized folia represent cerebellar polymicrogyria, and the presence of cerebellar cysts is related to the polymicrogyria. These two MR changes are often present in Fukuyama congenital muscular dystrophy and are distinct enough to suggest the radiologic diagnosis.
Authors: Andrea Poretti; Martin Häusler; Arpad von Moers; Bastian Baumgartner; Klaus Zerres; Andrea Klein; Chiara Aiello; Francesca Moro; Ginevra Zanni; Filippo M Santorelli; Thierry A G M Huisman; Joachim Weis; Enza Maria Valente; Enrico Bertini; Eugen Boltshauser Journal: Cerebellum Date: 2014-02 Impact factor: 3.847
Authors: Peter B Kang; Leslie Morrison; Susan T Iannaccone; Robert J Graham; Carsten G Bönnemann; Anne Rutkowski; Joseph Hornyak; Ching H Wang; Kathryn North; Maryam Oskoui; Thomas S D Getchius; Julie A Cox; Erin E Hagen; Gary Gronseth; Robert C Griggs Journal: Neurology Date: 2015-03-31 Impact factor: 9.910
Authors: Rebecca L Puckett; Steven A Moore; Thomas L Winder; Tobias Willer; Stephen G Romansky; Kelly King Covault; Kevin P Campbell; Jose E Abdenur Journal: Neuromuscul Disord Date: 2009-04-01 Impact factor: 4.296