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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 1998-4022
Vol. 58, No. 3, 2010, pp. 460-465
Bioline Code: ni10117
Full paper language: English
Document type: Case Report
Document available free of charge

Neurology India, Vol. 58, No. 3, 2010, pp. 460-465

 en Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies
Bindu, Parayil S.; Gayathri, Narayanappa; Bharath, Rose D.; Mahadevan, Anita; Sinha, Sanjib & Taly, A B.

Abstract

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.

Keywords
Alpha dystroglycanopathy, brain malformations, cerebellar cysts, congenital muscular dystrophy, polymicrogyria, pontine hypoplasi

 
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