Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A Case Report with MRI, MRS and DTI Findings
| Autor: | Wendy W.M. Lam, Janice J K Ip, Peter K T Hui, M. T. Chau |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Pathology
medicine.medical_specialty Magnetic Resonance Spectroscopy Muscular Dystrophies White matter Centrum semiovale medicine Humans Radiology Nuclear Medicine and imaging Pediatric Radiology Muscle contracture medicine.diagnostic_test business.industry Muscle weakness Brain Magnetic resonance imaging Anatomy medicine.disease Magnetic Resonance Imaging Hypotonia medicine.anatomical_structure Diffusion Tensor Imaging Child Preschool Congenital muscular dystrophy Female medicine.symptom business Diffusion MRI |
| Popis: | Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures. Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. A particular subset of classic CMD is characterized by a complete absence of merosin. Merosin-deficient congenital muscular dystrophy (MDCMD) is a rare genetic disease involving the central and peripheral nervous system in the childhood. High signal intensities are often observed throughout the centrum semiovale, periventricular, and sub-cortical white matters on T2-weighted images in MRI brain in children with MDCMD. Apparent diffusion coefficient (ADC) map may reveal increased signal intensity and apparent diffusion coefficient values in the periventricular and deep white matters. These white matter findings, observed in late infancy, decrease in severity with age. The pathogenesis of these changes remains uncertain at present. In this article, we outline the specific MR imaging findings seen in a patient with documented MDCMD and also suggest the causes. |
| Databáze: | OpenAIRE |
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