Engelmann's Disease

Krohel, Gregory B.; Wirth, Carl R.

doi:10.1016/0002-9394(77)90445-7

Cited by 23 publications

(17 citation statements)

References 10 publications

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“…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.…”

Section: Discussionmentioning

confidence: 99%

“…Biopsy specimens of the diaphyseal region of affected long bones have shown immature woven bone that has failed to remodel into normal Haversian bone 59 An excessively high osteoblast/osteoclast ratio and a high osteoid calcium to phosphorus ratio have been observed in biopsy specimens from affected individuals 10. Ophthalmic manifestations that have previously been described11 12 are shown in Table1.…”

mentioning

confidence: 96%

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

Wright

Miller

McFadzean

et al. 1998

British Journal of Ophthalmology

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Background/aims-Progressive diaphyseal dysplasia (PDD) is a rare, autosomal dominant, osteosclerotic dysplasia aVecting both endochondrally and intramembranously derived bones. Severely aVected patients can develop progressive stenosis of the optic canals and compressive optic neuropathy. Although raised intracranial pressure (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-contributory or only partially responsible for the accompanying visual loss. Methods-Three cases were reviewed and the clinical and radiological characteristics are described here. Results-All three patients had bilateral optic disc swelling with no radiological evidence of either compressive optic neuropathy or thrombosis of the intracranial venous sinuses. The aetiology of the disc swelling was proved to be papilloedema in the first two cases and was probably the dominant cause in the third case. Conclusion-The visual loss documented in at least two of the three patients reported appears to be solely attributable to raised ICP. Normalisation of the ICP has led to an improvement and stabilisation of the visual function in all three patients. Patients with PDD probably require periodic ophthalmic assessments.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 96%

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

Wright

Miller

McFadzean

et al. 1998

British Journal of Ophthalmology

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“…13 Several patients with these disorders have succumbed from sudden brainstem compromise. 2 The surgical procedures that have been used to prevent herniation, have included ventricular shunting, bitemporal craniotomy, and suboccipital craniotomy.8 1314 Bitemporal craniotomy and cranial nerve decompression have been reported to be less useful in some cases owing to the rapid regrowth of bone.2 Ventricular shunting has been mildly successful if hydrocephalus is present. 14 Suboccipital decompression is frequently performed in order to obviate cerebellum and brainstem impaction into the foramen magnum.13 i4 These operations are technically difficult owing to the thickness and density of the skull.5 12 14 Successful surgical outcome is temporary and limited, at best.…”

Section: Discussionmentioning

confidence: 99%

Fatal cerebellar herniation secondary to Camurati-Englemann's disease.

Simpson

Fischer

Gall

et al. 1988

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY Suboccipital craniotomy and cervical laminectomy were performed in a patient with Camurati-Englemann's disease to relieve symptoms of medullary compression. In spite of surgical decompression, the patient expired on the fourth postoperative day from cerebellar herniation.Camurati-Englemann's disease, also known as progressive diaphyseal dysplasia, is an unusual disorder of bone metabolism.' The lesions are primarily characterised by symmetrical, fusiform hyperostosis and sclerosis of long bones and of the cranial base.2 Pain in the lower extremities, general muscle weakness, and a waddling gait are the most common neurological disturbances.3 Cranial nerve deficits can occur with involvement of the skull.4 Surgical treatment has included decompression of the optic or auditory nerves.24 Rarely, a patient will have signs and symptoms of increased intracranial pressure (ICP).5 Both the aetiology and surgical management of increased ICP in Camurati-Englemann's disease have yet to be clarified. by bony overgrowth. He had broad, thick extremities and digits. Neurological examination revealed diminished auditory acuity bilaterally and weakness of facial muscles, and nystagmus on lateral gaze. He had a wide based gait, mild dysmetria, hyperactive deep tendon reflexes in his legs, and Babinski's sign was present bilaterally. Fundi were normal. Methods and resultsLaboratory investigation revealed an alkaline phosphatase of 657 IU/100 ml (normal = 25-100 IU), a parathormone level of 59 pg/ml (normal = 230-630 pg/ml). Serum calcium, full blood count, urinalysis and electrocardiogram were normal. A chest radiograph was normal except for thickened ribs and clavicles. A metabolic bone survey showed a diffuse, symmetrical increase in cortical bone thickness with loss of intramedullary cavities. Plain radiograph skull, CT and cerebral angiography were performed but were difficult to interpret because of attenuation caused by thick, dense bone. Magnetic resonance imaging revealed diffuse cranial hyperostosis with no pneumatization of the paranasal or temporal sinuses (fig a). The cerebral hemispheres were normal. There was tonsillar and vermian herniation caudal to Cl.A decompressive suboccipital craniotomy and Cl-C2 laminectomy were performed to decompress the posterior fossa and cervico-medullary junction. The operation was lengthy and technically difficult because of the thickness and density of the bone. Gross inspection of an intraoperative, nondecalcified specimen revealed apparently normal bone. A thick dense dural band between the arch of C1 and the foramen magnum was identified and divided. The medulla and spinal cord pulsated normally. As the dura was opened, the patient's temperature rose sud- 1349Protected by copyright. on 11 May 2018 by guest.

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“…It is characterized by progressive expansion and sclerosis, affecting mainly the diaphyses of the long bones. Pelvic bones, skull, mandible, and vertebrae are also thickened [9][10][11][12][13][14][15] . CED typically presents in childhood with generalized muscle weakness, lower limb pain, and a waddling gait 5 .…”

Section: Case Reportmentioning

confidence: 99%

“…Exophthalmos, and/or headache due to raised intracranial pressure by thickened skull bones, may be initial symptoms. Visual symptoms can occur, due to compressive optic neuropathy 9 . Diagnosis is initially based on the clinical picture, along with typical radiographic changes of the involved bones, while genetic testing is needed for the final diagnosis.…”

Section: Case Reportmentioning

confidence: 99%