PMC3359497_01
Proband with bilateral mild winged scapula and hyperlordotic posture.
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Neurological examination revealed a hyperlordotic posture, bilateral mild winged scapula (Fig. 1), a partial limitation of arms abduction, up to 90 , and a moderate hyposthenia at the pelvic girdle muscle level (score 4.5 at
Pedigree of the proband family. Arrow indicates the proband. Proband's father was reported to have difficulties in raising arms in his seventies; he died at the age of 83 years for Parkinson's disease. Proband's mother, affected by congestive heart failure, died at the age of 70 years (medical reports are not available). The brother, the sister and the two daughters of the proband resulted completely asymptomatic.
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The family history was inconsistent, although his father was reported to have difficulties in raising arms in his seventies and his mother, who died at age of 70 years from congestive heart failure, was reported to have heart complaints since age of 35 years, after her last delivery (medical reports are not available) (Fig. 2).
T1-weighted skeletal muscle MRI of the lower limbs: (a) at thigh level, marked fatty infiltration and atrophy of the left long adductor (arrow); (b) at leg level, fatty infiltration of the medial head of the left gastrocnemius (arrow).
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Quadriceps femoris muscle biopsy: (a) hematoxylin and eosin and (b) modified Gomori's trichrome staining; magnification 20x. Increase in connective tissue and diameter variability in both fiber types, scattered round shaped atrophic fibers, rare degenerative fibers and a considerable endomysial inflammatory infiltrate.
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Muscle biopsy showed moderate myopathic changes including increase in connective tissue and diameter variability in both fiber types, scattered round shaped atrophic fibers, rare degenerative fibers and a considerable endomysial inflammatory infiltrate (Fig. 4).
Skeletal muscle immunostaining for Cav-3 (monoclonal antibodies diluted 1:100 in 1% BSA-PBS; Transduction Laboratories, Lexington, KY) of a healthy control and of the proband. In the proband the immunolabeling for Cav-3 resulted markedly reduced at the plasmalemma in almost all fibers.
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Subsequently skeletal muscle immunostaining for Cav-3 (monoclonal antibodies diluted 1:100 in 1% BSA-PBS; Transduction Laboratories, Lexington, KY) was carried out and resulted markedly reduced at the sarcolemma in almost all fibers (Fig. 5), compatible with diagnosis of caveolinopathy.