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 CASE REPORT
Year : 2010  |  Volume : 58  |  Issue : 3  |  Page : 460--465

Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies


1 Department of Neurology, National Institute of Mental Health And Neurosciences (NIMHANS), Bangalore, India
2 Department of Neuropathology, National Institute of Mental Health And Neurosciences (NIMHANS), Bangalore, India
3 Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health And Neurosciences (NIMHANS), Bangalore, India

Correspondence Address:
A B Taly
Department of Neurology, NIMHANS, Bangalore
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.65925

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Alpha dystroglycanopathies are heterogeneous group of disorders both phenotypically and genetically. A subgroup of these patients has characteristic brain imaging findings. Four patients with typical imaging findings of alpha dystroglycanopathy are reported. Phenotypic features included: global developmental delay, contractures, hypotonia and oculomotor abnormalities in all. Other manifestations were consanguinity (3), seizures (3), macrocephaly (1), microcephaly (3), retinal changes (2) and hypogenitalism (2). Magnetic resonance imaging (MRI) of the brain revealed polymicrogyria, white matter changes, pontine hypoplasia, and subcortical cerebellar cysts in all the patients, ventriculomegaly, callosal abnormalities, and absent septum pellucidum in two and Dandy -Walker variant malformation in three. Magnetic resonace imaging of the first cousin of one the patient had the same characteristic imaging features. Brain imaging findings were almost identical despite heterogeneity in clinical presentation and histopathological features. Pattern recognition of MR imaging features may serve as a clue to the diagnosis of alpha dystroglycanopathy.






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