Fitzsimmons-Guilbert syndrome

Fitzsimmons-Guilbert syndrome is an extremely rare genetic disease characterized by a slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal–phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria, and mild intellectual deficit.^[1]

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History

Fitzsimmons and Guilbert first described male uniovular twins, aged 20 years, who had had slowly progressive spastic paraplegia from early in life.^[2] Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal pattern profile. In addition, they had nonspecific dysarthria and low-normal intellectual capacity.^[2]

Since the original report, three more cases have been described, including two (Lacassie et al) with a more severe mental retardation and a different metacarpal-phalangeal pattern profile, though these cases may represent a new disease entity.^[3][4]

Pathophysiology

With so few described cases, establishing the basic pathophysiological mechanisms or genetic abnormalities has not been possible.

References