title: [The Camurati-Engelmann syndrome (progressive diaphyseal dysplasia)].
abstract: The presented case-history demonstrates an infant with a rare bone disease with a very serious prognosis. Based on X-ray findings on the skeleton (sclerosis of the diaphyses of long bones, ribs, vertebrae and in particular the base and vault of the skull), the diagnosis of morbus Camurati-Engelmann--progressive diaphyseal dysplasia was established. With regard to the striking progression of the process in the cranial area and the progressing stigmatization of the patient's face, the authors consider also a more recent diagnostic unit--craniodiaphyseal dysplazia. With advancing sclerotization of the skull the most serious complications are compression of the cranial nerves which can be resolved in the final stage only by surgery. From a brief review of the literature: the aetiology of the disease is not known, the therapeutic effect of prednisone or calcitonin is small.
authors.affiliation: Dĕtská klinika, lékarské fakulty UK, Praha-Motol.
authors.forename: K
authors.initials: K
authors.lastname: Bláhová
authors.forename: J
authors.initials: J
authors.lastname: Horák
authors.forename: I
authors.initials: I
authors.lastname: Marík
mesh_terms: D003966:Camurati-Engelmann Syndrome / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008297:Male
vernacular_title: Morbus Camurati-Engelmann (progresivní diafyzární dysplazie).