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Magnetic resonance imaging of a unique mutation in a family with Pelizaeus–Merzbacher disease
Author(s) -
Miller Elka,
Widjaja Elysa,
Nilsson Daniel,
Yoon Grace,
Banwell Brenda,
Blaser Susan
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33305
Subject(s) - leukodystrophy , hypotonia , magnetic resonance imaging , dysarthria , nystagmus , spasticity , medicine , disease , pathology , radiology , physical therapy
Pelizaeus–Merzbacher disease (PMD) is a rare dysmyelination disorder, characterized by significant developmental delay, truncal hypotonia, spasticity, dysarthria, and nystagmus. Conventional magnetic resonance (MR) images demonstrate discordance of myelin maturation, while newer MR techniques, such as MR spectroscopy and diffusion tensor imaging, may be helpful in disease assessment. We report on a family of two young boys and their mother who share the same unusual 4‐bp deletion of the PLP1 gene: c51_54 del TTCC, causing truncation of the PLP1 in exon 2. The brain MRI appearances in this unique deletion, using newer MR imaging, are described. © 2010 Wiley‐Liss, Inc.