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Published on: August 24, 2013
Serial prenatal and postnatal MRI of dystroglycanopathy in a patient with familial B3GALNT2 mutation
Mai-Lan Ho1, Orit A Glenn2, Eliott H Sherr3,4
1Department of Radiology, Mayo Clinic, 200 First St. SW, Rochester, MN, 55905, USA. ho.mai@mayo.edu.
Abstract:
The dystroglycanopathies are a heterogeneous group of conditions, with mutations in B3GALNT2 described in association with congenital muscular dystrophy. The serial prenatal MRI findings in this disorder have not been well described. We present sequential prenatal and postnatal MRI findings in a boy with compound heterozygous mutations in B3GALNT2, as well as the MRI findings of his two siblings with similar mutations. These findings provide new insight into the molecular pathogenesis and neurodevelopment of congenital muscular dystrophy.
Insights
Congenital muscular dystrophy linked to B3GALNT2 mutations presents unique prenatal MRI features. This study details serial imaging findings, offering new insights into the disease
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Dystroglycanopathies are a diverse group of genetic disorders.
- Mutations in B3GALNT2 are associated with congenital muscular dystrophy.
- Prenatal Magnetic Resonance Imaging (MRI) findings in these conditions are not well-documented.
