AI Article Synopsis
- - Worth syndrome, a rare genetic disorder characterized by increased bone density, has been linked to neurologic symptoms, though effective surgical treatments are still not well-defined.
- - A case study of a mother and daughter with Worth syndrome revealed facial features typical of the condition, and both exhibited neurologic symptoms like headaches and nausea, leading to surgical intervention.
- - After undergoing posterior fossa decompression and related surgeries, both patients experienced resolution of their neurologic symptoms, suggesting this surgical approach could be a promising option for similar cases.
Article Abstract
Background: Worth syndrome or autosomal dominant endosteal hyperostosis (ADEH) is an extremely rare genetic disease involving increased bone density. To the author's knowledge, this is the second case report of a family with neurologic involvement associated with this condition along with its surgical treatment. The most effective treatment for clinically significant neurologic symptoms in this scenario is currently unknown, and there is sparse experience on surgical treatment for this condition reported in the literature. Therefore we aim to make a contribution to the identification of a standard and consistently successful surgical management.
Case Description: Two patients, mother (Patient 1) and daughter (Patient 2), were diagnosed with Worth syndrome. Both presented with the typical facial characteristics described for ADEH. Interestingly, Patient 1 presented the novel mutation in the LRP5 gene that is associated with different conditions involving increased bone density. Although neurologic symptoms are infrequent in ADEH, both referred chronic headache, nausea, and vomiting. Neuroimaging showed an increased cranial bone density and Chiari I malformation. The patients underwent a midline suboccipital craniectomy with excision of the posterior arch of C1 and duroplasty. However, due to a symptomatic recurrence 5 years after surgery, Patient 1 was reoperated on. We extended the craniectomy and also carried out a C2 laminectomy.
Conclusion: After surgical interventions, patients' neurologic symptoms were successfully resolved. This report shows that posterior fossa decompression including duroplasty may be a valid treatment option in case of neurologic involvement.
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| http://dx.doi.org/10.1016/j.wneu.2018.04.144 | DOI Listing |
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