[Stark-Kaeser type scapulo-peroneal amyotrophy of neurogenic origin. Study of a familial case]

There are several types of the rare syndrome, scapuloperoneal atrophy; the report deals with a familial case of the Stark-Kaeser type.

A 16 year-old Tunisian boy was admitted for "steppage" gait. His mother had distal myoatrophy of four limbs and pes cavus. His sister, aged 8 years, also had pes cavus. She had no tendon reflexes and electromyography showed evidence of muscular denervation with normal nerve conduction velocity. The "steppage" gait in our patient began when he was 6 years old. When he was examined at 16 years, there were bilateral atrophy of the sternocleidomastoid muscle, and atrophy of the scapular girdle and the peroneal muscles with loss of tendon reflexes; there was no sensory involvement. Nerve conduction velocity was normal and electromyography showed fibrillation and pseudomyotonia potentials. Creatine kinase activities were moderately increased. Muscle biopsy showed significant neurogenic type changes.

This patient has a Stark-Kaeser type spinal amyotrophy, a well-individualized entity due to progressive degeneration of the anterior horn cells.