Muscular changes in Engelmann's disease.

Abstract

DiscussionThe incidence of giardiasis in housed infants with diarrhoea (3%) was low; the higher incidence in itinerant infants (12 %) was Case report This Japanese boy was 11 years when he first visited our clinic. Family history was not remarkable. He had been the product of a term, uncomplicated pregnancy and had weighed 2 -9 kg at birth. Labour and delivery had been normal. He had attained all the early motor milestones at the appropriate ages and walked at 15 months. At 3 years it was noticed that his gait was waddling and wide-based; he could not run or jump as other children. He was admitted to a hospital with suspected muscular dystrophy. At 4 years bilateral inguinal hernias were repaired. At 10 years he began to complain of pains in the legs. At 11 he was admitted to hospital because of muscular weakness and wasting, and because he tired easily; he had difficulty in climbing stairs and could not lift heavy objects above his head.He was then a slender boy with an excessive lumbar lordosis; height was 133 3 cm (-1 SD) and weight 20-1 kg (-2 5 SD). Blood pressure was

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati–Engelmann disease): Report of a four‐generation pedigree, identification of a mutation in TGFB1, and review

“…Five patients presented with erythema and warmth overlying limb swelling. One patient with an umbilical hernia and one with an inguinal hernia were each reported previously, in addition to our propositus [Gillespie and Mussey, 1951;Yoshioka et al, 1980]. Delayed dentition or extensive caries were described in 18 patients.…”

Biochemical Markers of Bone Turnover in Camurati–Engelmann Disease: A Report on Four Cases in One Family

“…The reasons for the high sensitivity of urinary NTX and CL assays in Camurati-Engelmann disease are unclear and need further study. Since aberrant differentiation of monocytes and macrophages to fibroblasts and hence to osteoblasts has been reported as a pathogenic feature in this metabolic disorder [17][18], it could be argued that the increase in biochemical markers of bone resorption observed in this series could be linked to a hypothetical increase in bone fibrosis, and hence in collagen production. However, the presence of normal serum PIIINP values, a biochemical marker of fibrosis [11,12], further supports theory that the increase in bone resorption markers was produced by an increase in bone turnover.…”

Progressive diaphyseal dysplasia: A three-generation family with markedly variable expressivity

“…1) with gena valga and thick and prominent tibiae. nation shows rapid bone formation with woven osteoid and lack of Haversian system development [Wirth et al, 1982], but this aspect was said to be normal in another bone biopsy [Yoshioka et al, 1980]. The distribution of the bone involvement suggests that a good candidate gene for this autosomal-dominant disease should have a function in endochondral bone formation and not in intramembranous bone formation.…”

“…Muscular atrophy and weakness have been noted in many patients with PDD, and the muscular changes have been shown by biopsy to be selective atrophy of type II fibers without any degenerative change [Yoshioka et al, 1980]; decreased muscle carnitine content was described once [Bye et al, 1988].…”