Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.

Abstract

Male uniovular twins presented at the age of 20 years with spastic paraplegia which had been slowly progressing over the years. Both have skeletal anomalies of their hands and feet with brachydactyly, cone shaped epiphyses, and an abnormal metaphyseal phalangeal pattern profile. In addition, they have a non-specific dysarthria and lownormal intellectual ability. Hereditary or familial spastic paraplegia may be conveniently divided into the so-called pure type1 and the syndromic group in which spastic paraplegia is associated with other features.2 In the uncomplicated pure disease there is weakness and spasticity primarily involving the lower limbs, and with the exception of minimal sensory changes there are usually no signs in other body systems. This condition may be inherited in a variety of ways but dominant transmission appears to be the most common. The syndromic group has spastic paraplegia as a major feature but with other system involvement, for example, the skin, CNS, and optic tracts. They also show variable inheritance patterns. Although some skeletal abnormalities, for example, scoliosis, kyphosis, and pectus carinatum, have been reported in some of the recognised syndromes, there have been no reports of hand anomalies similar to those present in the twins in this report.

Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment

“…Age at presentation and rate of progression vary. Both the patient reported by Fitzsimmons and Guilbert [1987] and the present patient were noted to have lower limb spasticity by age 4 years. Spasticity was not documented in the patient described by Hennekam [1994] until age 14 years, although, like the patient we describe, toe-walking was observed at a young age.…”

“…Chromosomal microarray analysis in the present patient provided normal results but a more subtle rearrangement may have been beyond the resolution of the array utilized. One of the twins reported by Fitzsimmons and Guilbert [1987] fathered three unaffected children [Hennekam, 1994], which argues against an autosomal dominant mutation. Identification of additional patients will be helpful to further the understanding of this syndromic form of spastic paraparesis.…”

“…In the original report Fitzsimmons and Guilbert [1987] noted mental handicap as a principal finding and described the twins as having ''low-average ability with limited language and comprehension.'' The twins reported by Lacassie et al [1999] had mild to moderate mental retardation.…”

“…In 1987, Fitzsimmons and Guilbert described male monozygous twins with slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence [Fitzsimmons and Guilbert, 1987]. Hennekam suggested Fitzsimmons syndrome (OMIM 270710) as an eponym with the publication of the third patient in 1994.…”

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co‐occurrence of multiple events

“…Fitzsimmons syndrome (OMIM # 270710), was first described by Fitzsimmons and Guilbert in 1987 in a pair of monozygotic twins as the constellation of progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. Subsequent description of a single female child with similar features led to the eponym Fitzsimmons syndrome [Hennekam, 1994].…”