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Japanese CGL patients with BSCL2 mutations presented with severe insulin resistance, even during infancy, prior to the development of diabetes mellitus.

Summary:Spinal muscular atrophy(SMA),a degenerative disease of motor neurons,is characterized by atrophy of the proximal muscles of the trunk and limbs.In addition,its prognosis is influenced by the progression of respiratory disorder caused by respiratory muscle atrophy.We encountered a female who was diagnosed with type I SMA based on clinical course and muscle biopsy at eight months old.The patient underwent tracheostomy and mechanical ventilation at the age of two years and eight months,and was discharged to home at the age of three years.She had shown a favorable clinical course for approximately 11 years.At age 14,she developed atelectasis, and exacerbation of respiratory status,despite the aggressive medical therapy.Consequently,she required removing of mucus plug by bronchoscopy.In addition to the primary disease,her condition by scoliosis and tracheomalacia may have been caused by prolonged bedridden state.The patient has been receiving respiratory care based on multidisciplinary cooperation to prevent relapse of plastic bronchitis,and is showing a favorable course.

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