Question:

Which one of the following is a constant Magnetic Resonance Imaging (MRI) finding in children suffered from merosin-deficient congenital muscular dystrophy (MDCMD)?
1. Petechial haemorrhages.
2. White matter (WM) changes diffusely involve the hemispheres, sparing the corpus callosum and the brain stem.
3. Cerebellar and brain stem hypoplasia.
4. Large subcerebellar space.
5. Abnormal signal in the bilateral lenticular nuclei and in the caudate with subsequent cavitation.





Answer:

The correct answer for the question "Which one of the following is a constant Magnetic Resonance Imaging (MRI) finding in children suffered from merosin-deficient congenital muscular dystrophy (MDCMD)?" is:

2. White matter (WM) changes diffusely involve the hemispheres, sparing the corpus callosum and the brain stem.



Explanation
1: Petechial haemorrhages are not commonly seen in patients suffering from merosin-deficient congenital muscular dystrophy (MDCMD), but more commonly seen in X-linked myotubular myopathy.

2: White matter (WM) changes diffusely involve the hemispheres, sparing the corpus callosum and the brain stem are constantly seen in patients suffering from merosin-deficient congenital muscular dystrophy (MDCMD), due to increased water content in the white matter owing to an abnormal blood-brain barrier.

3: Cerebellar and brain stem hypoplasia are not usually seen in MDCMD, but more often seen in Fukuyama congenital muscular dystrophy (CMD), Walker-Warburg syndrome, Muscle-eye-brain disease and Leigh syndrome/ subacute necrotizing encephalopathy.

4: Large subcerebellar space is not usually seen in MDCMD, but more often seen in Dandy Walker syndrome, Fukuyama CMD, Walker-Warburg syndrome, Muscle-eye-brain disease and Leigh syndrome/ subacute necrotizing encephalopathy.

5: Abnormal signal in the bilateral lenticular nuclei and in the caudate with subsequent cavitation is not usually seen in MDCMD, but more often seen in Leigh syndrome/ subacute necrotizing encephalopathy.



From the manuscript:
Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A Case Report with MRI, MRS and DTI Findings
Radiology Case. 2012 Aug; 6(8):1-7


This article belongs to the Pediatric section.




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From the manuscript

Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A Case Report with MRI, MRS and DTI Findings

Free full text article: Merosin-Deficient Congenital Muscular Dystrophy (MDCMD): A Case Report with MRI, MRS and DTI Findings

Abstract
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.






References



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