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RESEARCH POSTER PRESENTATION DESIGN © 2015

www.PosterPresentations.com

Merosin-deficient congenital muscular dystrophy (CMD) belongs to a diverse

group of rare hereditary muscle diseases distinguished by specific phenotypes.

They are characterized by progressive joint contractures of all extremities and

spine. Subcategories of CMD besides other genetic muscle diseases should be

considered in the differential their diagnosis. MRI plays an expanding role in

diagnosis and disease tracking of various genetic muscle diseases. The goal is

to analyze the pattern of muscle involvement in a series of children with

clinically and genetically-determined merosin-deficient CMD employing

whole-body MRI. The specific objective is to establish contextual connections

with the children's clinical neuro-orthopedic and molecular profiles.

OBJECTIVES RESULTS Continued

Nagia Fahmy, MD1 Tamer A. EL-Sobky, MD2 Nermine S. Elsayed, MD3 Hossam M. Sakr, MD4 Amr M. Saadawy, MD4

1 Department of Neurology, 2 Department of Orthopedics, 3 Department of Genetics, 4 Department of Radiology, Faculty of Medicine, Ain Shams University, Cairo, Egypt

Whole-body Muscle Magnetic Resonance Imaging Characteristics of Children with Merosin-deficient Congenital Muscular Dystrophy

MATERIALS & METHODS

In this cross-sectional study nine children with merosin-deficient CMD (age

range 3y-14y, 2 boys, 7 girls) received a detailed neuro-orthopedic

examination, brain MRI, muscle biopsy with immunostaining, and serum

CPK to confirm the diagnosis. Children received a molecular study which

identified two homozygous pathogenic mutations in the LAMA2 gene in all

but one child with a compound heterozygous mutation. Children received

whole-body muscle MRI (including axial T1WI, T2WI & STIR) to detail the

pattern of muscle involvement in all extremities and trunk. We categorized

muscle fatty infiltration and atrophy. We used an age and sex-matched

control group of other hereditary muscle diseases.

RESULTS

Figure 1: Orthopedic manifestations of index cases. Note the

characteristic fixed flexion deformity of elbows (A), massive

dorsolumbar scoliosis (B), excessive internal femoral torsion,

flexion deformity of hips, and compensatory lumbar lordosis

(C,D,E) respectively. Mark the hip dysplasia and dislocation

(F). Intraoperative images show a massive fatty infiltration of

the vastus lateralis (G). Note the retracted ends of the iliotibial

band (horizontal arrows) & retracted ends of vastus lateralis

sheath (vertical arrows), whole body MRI images of two

patients showing severe (H) & milder (I) deformities.

Figure 2: Axial FLAIR (A,C)

and T2WI (B,D) of two different

merosine deficiency patients

showing white matter

demyelination changes.

RESULTS Continued

Clinical Neuro-orthopedic Evaluation

Patient No

(Age /Sex)

Ambulatory

status

Symmetric

pattern Upper limb contractures Lower limb contractures Spine contractures

Immuno-

histochemistry

1.

(9Y/F)

(-) (+) all

limbs

Flexion of elbows 50°, shoulder

and wrists spared

Hip & knee flexion of 95° & 70° respectively, internal femoral torsion with posterior hip subluxation. Semi-rigid

dorsolumbar

lordoscoliosis

Partial merosin

deficiency

2.

(5.5Y/M)

(-)

(+) all

limbs

Elbow flexion 20°, shoulder and

wrists spared

Dislocatable hips with audible click & flexion of 35°, & mild adduction. Right and left knee flexion of 15° &

5° respectively & gastrocnemius-soleus induced ankle equinus.

Supple lumbar

lordosis

Merosin deficiency

3.

(9Y/F)

(-) (-) overall

asymmetric

(Left>

right)

Right and left elbow flexion 5° &

45° respectively.

Right and left knee flexion of 15° & 45° respectively, gastrocnemius-soleus induced ankle equinus with supple

varus feet.

Rigid moderate

dorsolumbar scoliosis

Merosin deficiency

4.1

(14Y/F)

(-) (+)

especially

in upper

limbs

Elbow flexion 80°, shoulder

spared, & moderate flexion of

wrist and digits.

Marked pelvic obliquity. Otherwise no contractures but flaccidity and wasting. Rigid massive

dorsolumbar scoliosis

-

4.2

(12Y/F)

sister

(-) (+)

especially

in upper

limbs

Elbow flexion 70°, shoulder

spared, ulnar deviation of wrist

& digital flexion .

Dislocatable left hip with audible click, femoral shortening & bilateral internal femoral torsion. Flexion of

knees 10°, asymmetric gastrocnemius-soleus induced ankle equinus (right> left) & supple varus of right foot.

None Merosin deficiency

5.

(11yYF)

(-) (+) In all

limbs

Elbow flexion contracture of

moderate degree.

Internal femoral torsion and external tibial torsion Supple lumbar

lordosis

Merosin deficiency

6.1

(9Y/F)

(-) (+) In all

limbs

Elbow flexion 60°, internal

rotation of left shoulder,

extension of wrists with digital

flexion including thumbs

Dislocated right, subluxed left hip with audible click, internal femoral torsion & hypermobile hip rotation.

Hip & knee flexion of 35° & 5° respectively & supple varus feet.

Semi-rigid

dorsolumbar

lordoscoliosis.

Merosin deficiency

6.2

(3Y/F)

sister

(-) (+) In all

limbs

Elbow flexion 20°, spared

shoulders and wrists.

Hip & knee flexion of 50° & 10° respectively. Dislocated left, subluxed right hip with audible click &

hypermobile hip rotation. Ankle equinus (gastrocnemius induced on right & gastrocnemius-soleus on left)

Supple lumbar

lordosis

-

7.

(10Y/M)

(-)

(+) In all

limbs

Flexion of elbows 10°, mild

flexion contracture of wrists and

digits, spared shoulders

Flexion of both hips 80° & knees 95°, internal femoral torsion with posterior hip subluxation. Hypermobile

hips. Symmetric gastrocnemius-soleus induced ankle equinus with semi-rigid varus feet.

Supple lumbar

lordosis

Merosin deficiency

Muscle MRI Findings

Fig. 3: Axial T1WI in merosin-deficient CMD showing bilateral nearly

symmetrical pattern of fatty degeneration more pronounced in the

subscapularis (A), para spinal (B), gluteus medius & minimus (C), all

components of quadriceps, anterior half of the gracilis (D) & superficial

posterior compartment of calf i.e. gastrocnemius-soleus and peroneal

muscles (E).

Fig. 4: Axial T1WI of the shoulder region in three patients with

merosin-deficient CMD (A,B,C) showing predominant affection of

subscapularis and to a lesser degree infra-spinatous muscles, with

relative sparing of the deltoid muscles. Contrastingly, patients of the

control group (D: Collagen 6 deficiency, E: Titinopathy, F:

Sarcoglyconopathy) exhibit a different pattern.

Fig. 5: Axial T1WI of the upper arm in three patients with

merosin-deficient CMD, (A,B,C) showing predominant

affection of anterior compartment muscles with relative

sparing of the triceps/posterior compartment.

Contrastingly, the control group (D: Collagen 6 deficiency,

E: Titinopathy, F: Sarcoglyconopathy) exhibit a different

pattern.

Fig. 6: Axial T1WI of the forearm in three patients with merosin-

deficient CMD (A,B,C) showing a homogenous pattern of

affection of anterior and posterior compartments forearm

muscles. Contrastingly, the control group (D: Collagen 6

deficiency, E: Titinopathy, F: Sarcoglyconopathy) exhibit a

different pattern.

Fig. 7: Selected Axial T1WI of the paraspinal muscles in

three merosin-deficient CMD patients (A,B,C) show

various grades of fatty degeneration of erector spinae

muscle. Contrastingly, the control group (D: Collagen 6

deficiency, E: Titinopathy, F: Sarcoglyconopathy) exhibit a

different pattern.

Fig. 8: Axial T1WI of the gluteal region in three merosin-

deficient CMD patients (A,B,C) showing severe fatty

infiltration of gluteal muscles. Contrastingly, the control

group (D: Collagen 6 Deficiency, E: Titinopathy, F:

Sarcoglyconopathy) exhibit a different pattern.

Muscle Biopsy

Muscle biopsy of patient 2 with Merosin faint

staining

Muscle biopsy of patient 1 with Merosin

negative staining

DISCUSSION & SIGNIFICANCE

All patients had myopathic faces with bilateral lesions. Patients 1, 3, 4,.5 were

originally ambulatory while the remaining patients were non- ambulatory

from the start. The neuro-orthopedic manifestations are presented (Table 1).

We documented a fairly characteristic neuro-orthopedic pattern of

involvement which correlated with the whole-body muscle MRI pattern in

some anatomic regions. Index patients showed a fairly consistent pattern of

muscle involvement in contrast to the control group e.g. shoulder regions

showed affection of the subscapularis & to a lesser degree infra spinatus

muscles with relative sparing of the deltoid muscle (Fig. 4). The arms showed

a specific predilection to involve the anterior compartment with relative

sparing of the triceps (Figs. 5&6). The trunk showed specific predilection to

involve the para spinal & gluteal musculature especially the gluteus medius &

minimus (Figs. 7&8). A consistent pattern was demonstrated in the rectus

femoris, hamstring & leg muscles(Figs. 9&10). Although some findings were

unique to merosin-deficient CMD, others were sensitive i.e, shared by other

subtypes of CMD such as the geographic pattern of the rectus femoris and

vastus lateralis previously thought to be specific to collagen 6 deficiency.

There is emerging evidence to suggest that whole-body muscle MRI can

become a useful contributor to the differential diagnosis of merosin-

deficient CMD. The presence of a fairly characteristic whole-body muscle

MRI and neuro-orthopedic pattern of involvement was documented. Both

sensitive and specific muscle MRI findings have been documented. The

whole-body muscle MRI findings should be interpreted with reference to the

clinical and molecular context to improve diagnostic accuracy. The strength

of this study is that it demonstrates a diversification of disease severities and

clinical profiles. Larger and longitudinal studies may yet have positive

implications for disease tracking and for phenotype-genotype correlations.

Fig. 11: Axial T1WI of the shoulder (A), forearm (B), paraspinal (C), gluteal (D) & calf regions

(E) (columns) in three different merosine-deficienct CMD patients aged 6,9 & 12 years (1,2,3)

(rows) showing different degrees of affection of the same muscles in different patients with

various ages.

A B C D E

1

2

3

Fig. 9: Axial T1WI of the thigh in three

merosin-deficient CMD patients (A,B,C)

showing predominant hamstrings affection

with relative sparing of gracilis & sartorius.

Contrastingly, patients of the control group

(D: Collagen 6 deficiency, E: Titinopathy, F:

Sarcoglyconopathy) exhibit a different pattern.

The geographic pattern of rectus femoris is

shared by both index and collagen 6 patients.

Fig. 10: Axial T1WI of the calf in three merosin-

deficient CMD patients (A,B,C) showing severe

involvement of gastrocnemius-soleus &

peroneal muscles with relatively spared deep

posterior and extensor compartment of leg.

Contrastingly, the control group (D: Collagen 6

deficiency, E: Titinopathy, F: Sarcoglycanopathy)

exhibit a different pattern.

Corresponding authors: Tamer EL-Sobky tamer.ahmed@med.asu.edu.eg, Hossam Sakr

drhossam_sakr@med.asu.edu.eg