Camurati-Engelmann disease (progressive hereditary craniodiaphyseal dysplasia)

Abstract

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.

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

“…Corticosteroids appear to stimulate osteoclasis and decrease lamellar bone deposition, and to provide radiological improvement [Minford et al, 1981] and relief of crippling symptoms [Naveh et al, 1985]; in our patient only the latter was seen. Surgery may be needed to alleviate cranial nerve compression [Yen et al, 1978] and to correct bone deformities [Clawson and Loop, 1964]. This is being considered in patient IV-3 (Fig.…”

Papilloedema, a complication of progressive diaphyseal dysplasia: a series of three case reports

“…In all previous reported cases of visual failure associated with PDD,10 11 17 18 with possibly one exception,14 the aetiology of the visual loss has been assumed to have occurred solely as a result of a compressive optic neuropathy. PDD is part of the spectrum of primary bone disorders which include craniometaphyseal dysplasia, fibrous dysplasia, osteopetrosis, and aneurysmal bone cysts, all of which have been reported to cause progressive stenosis of the optic canals 19-22.…”

“…PDD is part of the spectrum of primary bone disorders which include craniometaphyseal dysplasia, fibrous dysplasia, osteopetrosis, and aneurysmal bone cysts, all of which have been reported to cause progressive stenosis of the optic canals 19-22. Although raised ICP has been described in patients with PDD in whom visual loss has occurred, the elevation of ICP in those patients has been thought to be either non-contributory17 or only partially responsible14 for the accompanying visual loss.…”

“…Yen et al  17 reported a patient who underwent a successful combined bilateral orbital and optic canal decompression and who was incidentally found to have elevated ICP (23 cm of water preoperatively and 28 cm postoperatively). As with other disorders of bone metabolism, papilloedema can either cause visual loss or coexist with a compressive optic neuropathy and appear to cause visual loss.…”

Neurootologische Frühsymptome der Camurati-Engelmann-Krankheit

“…Chirurgische Formen der Therapie verfolgen das Ziel einer Dekompression beteiligter Nerven (12). Beim N. opticus waren die Resultate enttãuschend (14,35). Eine Dekompression des N. vestibulo-cochlearis von einern transtemporalen Zugang aus wurde versucht (21).…”