Respiratory distress and selective muscle involvement in central core disease: report of a case

A 10-year-old girl who had suffered life-threatening respiratory distress in late infancy and mild muscle weakness in the extremities was found to have central core disease (CCD). Her developmental milestones were markedly delayed and she became ambulant at the age of 6 years. On physical examination, she had a high-arched palate, nasal tone vocalization, a positive Gowers' sign, waddling gait, and decreased deep tendon reflexes. On magnetic resonance imaging (MRI) examination, the thigh, calf, arm, and paravertebral muscles were selectively involved, especially in the paravertebral, biceps brachii, gluteus maximus and medius, vastus lateralis and medialis, sartorius, adductor magnus, tibialis anterior, soleus, lateral head of gastrocnemius, and peroneus longus muscles. Two biopsy specimens from the left biceps brachii and rectus femoris muscles showed the common histochemical findings of CCD, including type 1 fiber atrophy and predominance, and core structures. Proliferation of adipose tissue was only present in the biceps brachii muscle. The patient improved clinically in muscle strength after three year follow-up. Muscle MRI may provide a non-invasive evaluation of gross muscle involvement in CCD.