A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease

Abstract

Case: A 44-year-old woman presented with easy fatigability, diplopia, dizziness, and a 2-year history of pelvic, hip, and lower extremity aching and pain. Radiograph, magnetic resonance imaging, computed tomography, and histopathologic imaging studies were obtained. Hypersclerosis of the affected bones led to the initiation of a sclerotic bone dysplasia workup and sequencing of the transforming growth factor beta 1 gene located on chromosome 19q13 revealed a heterozygous rare missense variant in exon-4, leading to a final diagnosis of Camurati-Engelmann disease (CED). Medical treatment thus far has had a minimal effect on her symptoms, and the patient continues to be followed. Conclusions: This specific mutation has been reported only once previously in a patient with CED. This case report expands the typical phenotype associated with CED in association with the c.667T>C, p.Cys223Arg variant.

Presentación atípica de síndrome de CamuratiEngelmann en una paciente femenina colombiana. Reporte de caso

“…Meczekalski et al reportaron el caso de una paciente de 21 años con amenorrea hipotalámica, quien cursó además con sordera total del oído izquierdo e hipoacusia conductiva en el oído derecho, documentadas al examen audiológico y relacionadas con el hallazgo radiológico de engrosamiento generalizado y difuso, y aumento de la esclerosis de casi todos los huesos craneales visibles, así como una reconstrucción osteosclerótica significativa de las estructuras del oído interno, alteraciones identificadas en la tomografía axial computarizada de huesos temporales 21 . Owhonda y colaboradores, por su parte, documentaron el caso de una paciente de 44 años, que manifestó fatiga, rigidez muscular, exoftalmos, mareos y diplopía, cuyo único hallazgo a la resonancia magnética cerebral fue el engrosamiento de la base del cráneo 51 . Este tipo de manifestaciones neurológicas pueden ser explicadas por la destrucción de vías neurales producto de la compresión de partes particulares del sistema nervioso por el hueso hipertrófico, especialmente aquellas relacionadas con la modalidad auditiva o visual, y la pérdida de audición puede también ser el resultado de la oclusión de las estructuras del hueso temporal del oído medio o interno.…”

Surgery Treatment of an Adult Patient with Camurati-Engelmann Disease

“…Studies have shown that losartan reduces the regulation of the TGFβ1 gene signal, thus improving muscle pain in some patients and increasing muscle mass 10,13,14 . There is no favorable evidence for the use of bisphosphonates in treating CED 10,14,15 .…”

“…The progressive and disabling pain in patients with CED is due to the excessive growth of periosteal and endosteal bone, which causes the medullary canal to narrow. Surgical treatment involves drilling the medullary canal to reduce its overgrowth and thus resolve painful stimuli 10,15 . Treatment with osteosynthesis of fractures is indicated in cases with associated pathological fracture 15 .…”

“…Surgical treatment involves drilling the medullary canal to reduce its overgrowth and thus resolve painful stimuli 10,15 . Treatment with osteosynthesis of fractures is indicated in cases with associated pathological fracture 15 . Our patient did not improve significantly after treatment with NSAIDs and high doses of corticosteroids for 3 months; however, her severe pain was relieved after the cortical window technique and medullary decompression were performed, which suggests that surgical management in refractory cases may be a therapeutic option to consider [15][16][17] .…”

“…Treatment with osteosynthesis of fractures is indicated in cases with associated pathological fracture 15 . Our patient did not improve significantly after treatment with NSAIDs and high doses of corticosteroids for 3 months; however, her severe pain was relieved after the cortical window technique and medullary decompression were performed, which suggests that surgical management in refractory cases may be a therapeutic option to consider [15][16][17] . It is necessary to perform strict follow-up because another procedure may be required in case severe pain reoccurs.…”