Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusions

Abstract

We report on 6 patients with short stature and progressive enchondromatous-like changes of the vertebral bodies and the metaphyses of the long bones. Parental consanguinity was observed in 5 of 6 cases, supporting autosomal recessive inheritance. In spite of the similarity in radiographic changes and body proportions, genetic heterogeneity is suggested by the presence of CNS calcifications in 3 patients. Two of the latter had progressive quadriparesis. We tentatively classified these patients into 2 provisional types. An iliac crest biopsy in one of the patients with "type I" disease did not demonstrate enchondromatosis. Light and transmission electron microscopic studies demonstrated large cisterns and small inclusion bodies containing a flocculent material within the rough endoplasmic reticulum of the chondrocytes. Based on the histological and radiographic findings, we propose to classify these conditions among the spondylometaphyseal skeletal dysplasias.

Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder

“…The diagnosis of rheumatic fever with Sydenham chorea in Patient 9 may be coincidental or might be another expression of autoimmune cerebral vasculitis in SPENCD. The association of skeletal lesions with a neurological phenotype has prompted investigations for a lysosomal disease in several of our patients as well as in several patients reported in the literature (e.g., see Frydman et al [1990]). Several of our patients share a supplementary feature that has not been associated with SPENCD so far, namely, immune dysregulation.…”

“…Several patients with SPENCD, including the original patients described by Schorr, additional patients reported by Ziv et al [1989], Frydman et al [1990], Robinson et al [1991] and Patient 1 in our series, are of Israeli origin, suggesting a higher frequency of this disorder in the Ashkenazi population, as noted already by Robinson et al [1991]. Inheritance of SPENCD has been believed to be autosomal recessive because of the occurrence of multiple affected sibs born to unaffected parents [Tuysuz et al, 2004] and because of the frequent observation of parental consanguinity, as in the initial description of Schorr et al [1976] and in our family 5.…”

Spondyloenchondrodysplasia: A rare cause of short-trunk syndrome

“…Enchondromatosis is usually sporadic, though its occurrence in siblings has been reported (McKusick 1971). In the last few years, several cases were reported in which enchondromatous-like lesions involved both the long bones and the spine, and an autosomal recessive mode of inheritance has been suggested (Mainzer et al 1971, Schorr et al 1976, Spranger et al 1978, Sauvegrain et al 1980, Chagnon et al 1985, Azouz 1987, Menger et al 1989, Ziv et al 1989, Frydman et al 1990. Although the prevalence of spondyloenchondrodysplasia is unknown, it is striking that approximately 40 percent of all the cases reported occurred in Israel (Schorr et al 1976, Menger et al 1989, Ziv et al 1989, Frydman et al 1990), whose population is about 0.1 percent of the total world population.…”

Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV)

“…Subtypes of enchondromatosis associated with spine involvement are well documented in the literature (Table 1) [6][7][8][9][10][11][12][13][14][15][16] .…”