Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment.

Abstract

Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported. The cause remains unknown. Here we describe a 16-year-old boy with Fitzsimmons syndrome. He was noted to toe-walk at age 18 months and spasticity progressed slowly into a spastic gait with contractures. He has mild dysarthria and hypernasal speech. Brachydactyly is notable but cannot be classified into one of the recognized types. A cone-shaped epiphysis was apparent on the only available childhood radiograph. He has moderate cognitive handicap and pervasive developmental delay. A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome.

• Authors: Christine M Armour, Peter Humphreys, Raoul C M Hennekam, Kym M Boycott
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 10 Pg. 2254-7 (Oct 2009) ISSN: 1552-4833 [Electronic] United States
• PMID: 19760657 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnosis)
• Adolescent
• Cognition Disorders (complications)
• Foot Deformities, Congenital (complications)
• Humans
• Male
• Paraplegia (complications)
• Syndrome