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Results for “Camurati-Engelmann Syndrome”

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At least 19 recordsLinked to original sources
PubMed1977

Histologic, microradiographic and electron microscopic investigations of bone tissue in a case of craniodiaphyseal dysplasia.

The results of histologic, microradiographic and electron microscopic investigations carried out on two bone biopsies pertaining to a case of craniodiaphyseal dysplasia are reported. They show that the affected skeletal segments are chiefly characterized by enhancement of bone volume, and defective calcification of the bone matrix. Moreover, interstitial calcification of skeletal muscle has been found.

Bone Diseases, Developmental↗
PubMed1977

Engelmann's disease.

A 5-year-old boy with diaphyseal dysplasia who exhibited marked involvement of the cranial bones developed marked disk edema in a one-year period. We believed the optic canal was being rapidly compromised by bony proliferation and vision was threatened. Selective bone studies, including tetracycline labeling, demonstrated a rapid accretion of bone 1 1/2 to two times the expected rate for his age. We performed bilateral unroofing of the optic canals with additional temporal decompression of the left orbit. Limited unroofing of the right eye proved to be inadequate and only with additional extensive temporal decompression was the disk edema of the left eye reversed. Tomograms taken one year after surgery revealed regrowth of bone in the optic canal and orbital roof. The usefulness of bony decompression of the orbits in Engelmann's disease is requestionable.

Adolescent↗
PubMed1977

Luxation of the globe in Engelmann's disease.

A 35-year-old woman with Engelmann's disease and systemic lupus erythematosus developed spontaneous luxation of the globe and glaucoma. Radiological studies demonstrated increased sclerosis of the orbital bones and decreased orbital volumes, the probable cause of the luxation and the glaucoma. The glaucoma was controlled with pilocarpine eyedrops and the luxation spontaneously reduced. The systemic administration of corticosteroids for the control of Engelmann's disease and systemic lupus erythematosus may have been a contributory factor in the etiology and management of glaucoma.

Adrenal Cortex Hormones↗
PubMed1978

[Transitory myelofibrosis in a case of diaphyseal dysplasia (Camurati-Engelmann's disease) (author's transl)].

A Greek child aged 2 with diaphyseal dysplasia developed an anaemia which required transfusion. The liver, spleen and lymph nodes were enlarged, there was pancytopenia and polyclonal hypergammaglobulinaemia. Biopsy provided evidence for myelofibrosis with extramedullary erythropoiesis. He was treated with small doses of corticosteroids and during his third year there was complete regression of the disease without recurrence when treatment was stopped. Disturbances of haematopoiesis in diaphyseal dysplasia has not been reported previously. These unusual findings are of clinical interest and also affect the clinical diagnosis.

Bone Diseases, Developmental↗
PubMed1977

Autosomal dominant osteosclerosis.

Two cases of a craniotubular hyperostosis are presented. The radiographic features closely resemble Van Buchem disease (hyperostosis corticalis generalisata; endosteal hyperostosis, recessive type), including symmetrical and bilateral diaphyseal cortical thickening of the long and short tubular bones as well as sclerosis and thickening of the calvaria, mandible, shoulder and pelvic girdles, and thoracic cage. Unlike Van Buchem disease, no periosteal excresences are observed, alkaline phosphatase is normal, no basal foramina encroachment of the skull is present, and the genetic pattern is dominant inheritance. These cases possibly represent a separate disorder rather than a variant of Van Buchem disease.

Adult↗
PubMed1978

Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia). Case report.

In a patient with Camurati-Engelmann disease, orbital and optic nerve decompression resulted in improvement of papilledema. Subsequent x-ray films of the optic canals, however, revealed reconstitution of osseous optic canals bilaterally, and papilledema has returned in one eye. Definitive treatment of this dysplastic metabolic bone disorder rests in the control of rapid abnormal bone formation.

Bone Diseases, Developmental↗
PubMed1979

[Destructive diaphysitis in early congenital syphilis].

X-ray observations of bone lesions produced by Syphilis Connata Praecox have been reviewed. 15 cases of this condition are presented of which six show mucous and cutaneous lesions. One planus condylomata; three cases of pemphigus, one with paronychia; one perionixis and one rhinitis. Bone lesions appeared in X-ray observations in all cases excepting one in which lesions had already reacted to therapy. Concerning these 15 cases of Syphilis Connata Praecox we consider important to inform about X-ray discoveries both frequent and infrequent concerning this condition. We point out one exceptional case of destructive diaphysitis associated with a typical metaphyseal osteolysis.

Bone Diseases, Developmental↗
PubMedDate not supplied

[Engelmann-Camurati's disease. Report of a clinical case and its evolution during 4 years].

Engelmann-Camurati's diseases is a progressive alteration of the diaphysis of the long bones, where the etiology is unknown. It appears clinically around the age of two years, showing weakness of the lower limbs and frequent falls; there is also weight loss and in older patients, the appearance of secondary sexual characteristics is retarded. The diagnosis is made clinically and corroborated with x-ray studies that show increased density and width of the diaphysis. We report a case in a female where the diagnosis was established at twelve years of age; she received steroid therapy for four years without improvement. The mechanism of action of the steroids is unknown, but it seems that they stimulate the formation of healthy bone with adequate remodelling. Physiotherapy is necessary in these patients and if there should be a compression of the cranial nerves, surgical management may be useful to relieve compression.

Adolescent↗
PubMed1979

[Hydrocephalus and craniodiaphyseal dysplasia (author's transl)].

One case is reported of dilatation of the lateral ventricles in a patient suffering from craniodiaphyseal dysplasia, with follow up of one year. The pathogenic hypothesis personally proposed are: a) partial and intermittent compression of the aqueduct by a dolico-mega basilar artery; b) "cisternal hypofunction".

Bone Diseases, Developmental↗
PubMed1977

The craniotubular bone modeling disorders: a neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression.

The craniotubular bone modeling disorders are a group of skeletal dysplasias which involve predominantly the skull and long bones. The cranial involvement includes both external facial deformities and internal bony overgrowth about the cranial foramina and fissures. The latter commonly leads to cranial nerve compression, particularly of the optic nerve. Craniotomy and cranial nerve decompression can give substantial benefit to selected patients with these diseases but the severe bony abnormalities create technical problems which prevent surgery in some extreme cases. These disorders are genetically determined but the basic pathophysiologic mechanism has been delineated for only a few types and non-surgical treatment remains supportive.

Bone Diseases, Developmental↗
PubMed1977

Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia).

The clinical and biochemical features of four adults with Engelmann's disease (Camurati-Engelmann disease; progressive diaphyseal dysplasia) are presented. One young patient, with a particularly severe form of the disease, is discussed in detail. Biochemical abnormalities were found in three of the patients. In two of them, one with localized hyperostosis and one with generalized bone disease, the only changes were an increase in the plasma alkaline phosphatase and urinary total hydroxyproline excretion. The most severely affected patients, who had had progressive and generalized bone disease from age two and a half years, also had persistent hypocalcaemia and hyperphosphataemia, a positive calcium balance, and a very low urine calcium excretion. It is suggested that some patients with Engelmann's disease may have a previously unrecognized metabolic disorder associated with increased retention of calcium and excessive bone formation. The possible role of abnormal phosphate metabolism in this increased formation of bone, and the relationship of Engelmann's disease to other hyperostoses, are discussed.

Adult↗
PubMed1976

Tumoral calcinosis and Engelmann disease.

Four cases of Engelmann disease were observed in a dominant inheritance pattern in a family of St. Landry Mulattoes. In the youngest sibship, one of the cases also had tumoral calcinosis. Another sib had only tumoral calcinosis, though some findings suggested that this sib may also have had Engelmann disease. All 3 of the younger sibs had snow-capped teeth. It is suggested by this family that snow-capped teeth may be part of the syndrome of Engelmann disease.

Bone Diseases, Developmental↗