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Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency
S Lamer1, R Y Carlier, J M Pinard
1Department of Radiology, Hôpital Raymond Poincare, Garches, France.
Purpose:
To evaluate the brain magnetic resonance (MR) imaging findings in patients with the "classic" form of congenital muscular dystrophy (patients with normal intelligence) in relation to the absence of merosin, a recently identified molecular component in the basement membrane of muscle fiber.
Materials And Methods:
Brain MR images in 15 patients (13 children, two adults) were reviewed and correlated with the patient's merosin status. Merosin was evaluated by means of immunocytochemical study of specimens from muscle biopsy.
Results:
Nine patients had merosin deficiency. All patients had diffuse white matter alterations similar to those seen in cases of leukodystrophy. Periventricular and subcortical white matter were involved. The corpus callosum and internal capsule were spared. Follow-up MR images were available in two patients; changes were nonprogressive. White matter signal intensity was normal in the six patients with normal uniform labeling against merosin. Ventricular dilatation and cortical atrophy were observed in both groups.
Conclusion:
Diffuse white matter changes resembling those seen with leukodystrophy may be a valuable criterion for diagnosis of merosin deficiency in patients with classic congenital muscular dystrophy.
Insights
Brain MRI in patients with classic congenital muscular dystrophy reveals diffuse white matter changes, similar to leukodystrophy, in those with merosin deficiency. These findings may aid in diagnosing merosin absence.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Congenital muscular dystrophy (CMD) is a group of inherited muscle disorders.
- The
- classic
- form of CMD is characterized by normal intelligence.
- Merosin, a basement membrane protein, is crucial for muscle function and has been recently identified.
Purpose of the Study:
- To investigate brain magnetic resonance (MR) imaging findings in patients with classic congenital muscular dystrophy.
- To correlate these findings with the absence of merosin, a key muscle protein.
Main Methods:
- Review of brain MR images from 15 patients (13 children, 2 adults) with classic CMD.
- Correlation of imaging findings with merosin status determined by immunocytochemical analysis of muscle biopsy specimens.
Main Results:
- Nine patients exhibited merosin deficiency.
- All patients, regardless of merosin status, displayed diffuse white matter alterations resembling leukodystrophy.
- Affected areas included periventricular and subcortical white matter, with sparing of the corpus callosum and internal capsule. Ventricular dilatation and cortical atrophy were noted in both merosin-deficient and merosin-positive groups.
Conclusions:
- Diffuse white matter changes on brain MR imaging are a potential diagnostic indicator for merosin deficiency in classic congenital muscular dystrophy.
- These imaging findings can aid in the diagnosis of merosin-deficient congenital muscular dystrophy.