Camurati-Engelmann disease

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Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia (PDD),is a rare autosomal dominant sclerosing bony dysplasia. It begins in childhood and follows a progressive course.

Clinical presentation

Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic.~~Patients~~ Patients can have hepatosplenomegaly ^⁵.

Pathology

In a vast majority of cases it occurs from a defect in the TGFB1 gene.

Distribution

Tends to be bilateral and symmetrical. Can affect any bone but has a greater predilection for the long bones (femur, tibia, fibula, humerus, ulna and radius). Other common sites include the skull and pelvis.

Radiographic features

Plain film

there is fusiform bony enlargement with sclerosis in long bones ⁶
the epiphyses are spared

Bone scintigraphy

affected regions show high uptake with Tc⁹⁹ ~~MDP~~-MDP bone scintigraphy representing osteoblastic activity ⁴

Historical context

~~Named after~~ ^{2, 3}:

~~M Camurati, Italian physician~~
~~G Engelmann, German physician~~

Treatment and prognosis

Complications

progressive stenosis of the optic canals and compressive optic neuropathy can give papilloedema ⁷

History and etymology

Named after ^{2, 3}:

M Camurati, Italian physician
G Engelmann, German physician

Differential diagnosis

General imaging differential considerations include

van Buchem disease:
osteopetrosis:
Ribbing disease (multiple diaphyseal sclerosis): can appear similar but presents in middle age ¹

-<p><strong>Camurati-Engelmann disease (CED)</strong>, also known as <strong>progressive diaphyseal dysplasia (PDD)</strong>,<strong> </strong>is a rare autosomal dominant <a href="/articles/sclerosing-bone-dysplasias">sclerosing bony dysplasia</a>. It begins in childhood and follows a progressive course. </p><h4>Clinical presentation</h4><p>Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. <span style="line-height:1.6em">Patients can have hepatosplenomegaly </span><sup style="line-height:1.6em">5</sup><span style="line-height:1.6em">.</span></p><h4>Pathology</h4><p>In a vast majority of cases it occurs from a defect in the TGFB1 gene.</p><h5>Distribution</h5><p>Tends to be bilateral and symmetrical. Can affect any bone but has a greater predilection for the long bones (femur, tibia, fibula, humerus, ulna and radius). Other common sites include the skull and pelvis.</p><h4>Radiographic features</h4><h5>Plain film</h5><ul>
+<p><strong>Camurati-Engelmann disease (CED)</strong>, also known as <strong>progressive diaphyseal dysplasia (PDD)</strong>,<strong> </strong>is a rare autosomal dominant <a href="/articles/sclerosing-bone-dysplasias">sclerosing bony dysplasia</a>. It begins in childhood and follows a progressive course. </p><h4>Clinical presentation</h4><p>Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly <sup>5</sup>.</p><h4>Pathology</h4><p>In a vast majority of cases it occurs from a defect in the TGFB1 gene.</p><h5>Distribution</h5><p>Tends to be bilateral and symmetrical. Can affect any bone but has a greater predilection for the long bones (femur, tibia, fibula, humerus, ulna and radius). Other common sites include the skull and pelvis.</p><h4>Radiographic features</h4><h5>Plain film</h5><ul>
~~-</ul><h5>Bone scintigraphy</h5><ul><li>affected regions show high uptake with <strong>Tc</strong><sup>99</sup> MDP bone scintigraphy representing osteoblastic activity <sup>4</sup>~~
~~-</li></ul><h4>Historical context</h4><p>Named after <sup>2, 3</sup>:</p><ul>~~
~~-<li> M Camurati, Italian physician</li>~~
~~-<li>G Engelmann, German physician</li>~~
-</ul><h4>Treatment and prognosis</h4><h5>Complications</h5><ul><li>progressive stenosis of the <a href="/articles/optic-canal">optic canals</a> and compressive <a href="/articles/optic-neuropathy">optic neuropathy</a> can give <a href="/articles/papilloedema">papilloedema</a> <sup>7</sup>
~~-</li></ul><h4>Differential diagnosis</h4><p>General imaging differential considerations include</p><ul>~~
+</ul><h5>Bone scintigraphy</h5><ul><li>affected regions show high uptake with Tc<sup>99</sup>-MDP bone scintigraphy representing osteoblastic activity <sup>4</sup>
+</li></ul><h4>Treatment and prognosis</h4><h5>Complications</h5><ul><li>progressive stenosis of the <a href="/articles/optic-canal">optic canals</a> and compressive <a href="/articles/optic-neuropathy">optic neuropathy</a> can give <a href="/articles/papilloedema">papilloedema</a> <sup>7</sup>
+</li></ul><h4>History and etymology</h4><p>Named after <sup>2, 3</sup>:</p><ul>
~~-<a href="/articles/van-buchem-disease">van Buchem disease </a>:</li>~~
+<strong>M Camurati</strong>, Italian physician</li>
~~-<a href="/articles/osteopetrosis">osteopetrosis </a>:</li>~~
+<strong>G Engelmann</strong>, German physician</li>
+</ul><h4>Differential diagnosis</h4><p>General imaging differential considerations include</p><ul>
-<a href="/articles/ribbing-disease">Ribbing disease </a>(<a href="/articles/multiple-diaphyseal-sclerosis">multiple diaphyseal sclerosis</a> : can appear similar but presents in middle age <sup>1 </sup>
+<a href="/articles/van-buchem-disease">van Buchem disease</a>:</li>
+<li>
+<a href="/articles/osteopetrosis">osteopetrosis</a>:</li>
+<li>
+<a href="/articles/ribbing-disease">Ribbing disease </a>(<a href="/articles/multiple-diaphyseal-sclerosis">multiple diaphyseal sclerosis</a>): can appear similar but presents in middle age <sup>1 </sup>

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