Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients |
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Authors: | L Farina L Morandi I Milanesi E Ciceri M Mora I Moroni C Pantaleoni M Savoiardo |
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Institution: | (1) Department of Neuroradiology, Istituto Nazionale Neurologico C. Besta, Via Celoria 11, I-20133 Milan, Italy Tel.: +39-02-2 39 44 49 Fax: +39-02-70 63 82 17, IT;(2) Department of Neuromuscular Disorders, Istituto Nazionale Neurologico C. Besta, Milan, Italy, IT;(3) Department of Child Neurology, Istituto Nazionale Neurologico C. Besta, Milan, Italy, IT |
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Abstract: | We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin α 2) deficiency,
which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four
patients had supratentorial white matter abnormalities. In three, T2-weighted images revealed subcortical, deep lobar and
periventricular high signal in white matter, while in the other there were only small peritrigonal areas of increased signal.
On T1-weighted images, there was slightly low signal. Cortical abnormalities were absent. None of these changes were accompanied
by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt
investigation of merosin.
Received: 22 December 1997 Accepted: 22 April 1998 |
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Keywords: | Congenital muscular dystrophy Merosin Magnetic resonance imaging |
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