The Role of Mutations on Gene TGFB1 in Camurati Engelmann Syndrome

Camurati-Engelmann disease (CED) is characterized by increased bone density primarily affecting the long bones of the arms and legs and the skull. The thickening of these bones leads to pain, a waddling gait, muscle weakness, and extreme fatigue. Increased density of the skull can cause a variety of neurological deficits such as headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and even facial paralysis. The first symptoms of the condition can appear at varying ages, but usually during childhood, with pain and proximal muscle weakness developing by adolescence. CED is often diagnosed based on a physical exam and radiographic findings (X-rays). CED is inherited in an autosomal dominant manner and is caused by changes (mutations) in the TGFB1 gene.

Decompression of the internal auditory canal via the retrosigmoid approach in a patient with Camurati-Engelmann disease: illustrative case

BACKGROUNDCamurati-Engelmann disease (CED) is a rare condition characterized by hyperostosis of the long bones and skull base. Symptoms include contractures and pain in affected extremities but can also include manifestations of cranial hyperostosis such as intracranial hypertension, Chiari malformation, exophthalmia, frontal bossing, and several cranial neuropathies due to cranial foraminal stenosis.OBSERVATIONSThis report describes a 27-year-old patient with suspected CED who developed progressive intermittent facial nerve paresis, hemifacial spasms, and a decrease in hearing. There were no symptoms of increased intracranial pressure or vertigo. Radiological evaluation showed a significant thickening of the skull base with serious bilateral internal auditory canal stenosis. Because of the progressive nature of the aforementioned cranial neuropathies in combination with the correlating severe radiological compression, a surgical decompression of the facial nerve and vestibulocochlear nerve was performed via a retrosigmoid approach with intraoperative monitoring. Postoperative facial nerve function was intact. Hearing and vestibular function were unchanged. There were no more episodes of facial nerve palsy or spasm.LESSONSTo the authors’ knowledge, this is the first report to describe decompression of the internal auditory canal via a retrosigmoid approach for symptomatic facial and cochlear nerve compression in a patient with CED.