Case ReportGamma Knife Radiosurgery for Trigeminal Neuralgia Associated with Osteogenesis Imperfecta
Introduction
Osteogenesis imperfecta, a rare inherited bone disorder marked by fractures from trivial bony injuries, was first linked to basilar impression in the 1940s.1 Osteogenesis imperfecta is a clinically and genetically heterogeneous group of heritable disorders of connective tissue characterized by reduced bone mass (osteopenia) with associated bone fragility.2
Basilar impression, the most common malformation of the craniocervical region, is the upward displacement of basilar and condylar portions of the occipital bone, causing an infolding of the foramen magnum and leading to translocation of the upper cervical spine into the brainstem.2 In such cases, the brainstem and cranial nerves are distorted by the rostrally displaced clivus-atlas-odontoid complex within the foramen magnum, leading to potentially fatal neurologic dysfunction.
Neurologic symptoms resulting from basilar impression include headache (typically occipital and precipitated by cough and laughter), trigeminal neuralgia, vertigo or imbalance precipitated by head movement, weakness in legs and arms, sleep apnea, and seizures.2
Successful treatment of trigeminal neuralgia is rarely reported. Moreover, microvascular decompression (MVD) has been unsuccessful because of difficulty exploring the posterior fossa. A recent report described a patient successfully treated by MVD.3
Gasselian ganglion block is difficult due to anatomic variation.4 Thus, we explored the use of gamma knife radiosurgery (GKS) to treat the trigeminal neuralgia associated with osteogenesis imperfecta. Here we report a novel GKS technique for treating osteogenesis imperfecta–associated trigeminal neuralgia.
Section snippets
Case Presentation
An 18-year-old man diagnosed with severe type I osteogenesis imperfecta (heterozygous mutant gene of the COL1A1 gene) had experienced left trigeminal neuralgia at the maxillary and mandibular divisions starting at age 16. Chewing and talking seemed to exacerbate the episodes, but there were no trigger points on the face. The pain was often severe enough to awaken him.
At first, the patient was treated with carbamazepine and pregabalin, and the neuralgia was controlled. However, by age 18, the
Osteogenesis Imperfecta and Basilar Impression
Osteogenesis imperfecta is a heterogeneous group of disorders characterized by abnormal formation of type 1 collagen, resulting in extreme bone fragility and inclination to fracture.5 In most cases, the disease is mild, and adults have minimal deformity.
Basilar impression is a rarely reported but potentially devastating complication that may also occur in Paget disease, rickets, Hadju–Cheney syndrome, and other osteochondrodysplasias.6 The weight of the cranium may progressively deform the
Conclusions
We report a rare case of trigeminal neuralgia resulting from severe basilar impression without vascular compression in which conventional MVD would not have been appropriate and so GKS was used. GKS is a simple and effective procedure, even in cases of severe cranial deformity.
Acknowledgment
We thank Dr. Masahiro Nonaka (Department of Neurosurgery, Kansai Medical College, Hirakata, Osaka) and Motohiro Kitano (Department of Orthopedics, National Hospital Organization, Osaka National Hospital, Osaka) for referring the patient and for productive discussions.
References (14)
Osteogenesis imperfecta and other heritable disorders of bone
Bailliere’s Clin Endocrinol Metab
(1997)- et al.
Megadolichobasilar anomaly, basilar impression and occipito-vertebral anastomosis
Clin Neurol Neurosurg
(1975) Platybasia with involvement of the central nervous system
Ann Surg
(1942)- et al.
Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases
J Neurol Neurosurg Psychiatry
(1999) - et al.
Trans-sylvian approach to microvascular decompression for trigeminal neuralgia in syndrome cranial base settling
Oper Neurosurg
(2017) - et al.
Precise cannulation of the foramen ovale in trigeminal neuralgia complicating osteogenesis imperfecta with basilar invagination: technical case report
Neurosurgery
(2000) - et al.
Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management
J Neurosurg
(1997)
Cited by (3)
Pain Phenotypes in Rare Musculoskeletal and Neuromuscular Diseases
2021, Neuroscience and Biobehavioral ReviewsCitation Excerpt :Unexpectedly, acetabular protrusion, the displacement of the femoral head medial from the ilio-ischial line (Ajlouni et al., 2020; Violas et al., 2002), has been suggested to contribute to recurrent abdominal pain in OI (Lee et al., 1995). While pain in OI is mainly nociceptive, trigeminal neuralgia is a frequent source of neuropathic pain (Iwai et al., 2018; Ruschel et al., 2017) and arises due to basilar skull displacement (Hayes et al., 1999; Ray, 1942). In OI, higher pain scores are associated with worse quality of life (Nghiem et al., 2017).
Retrosigmoid microvascular decompression as a treatment for trigeminal neuralgia in a patient with osteogenesis imperfecta
2023, British Journal of NeurosurgeryClinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports
2020, American Journal of Medical Genetics, Part A
Conflict of interest statement: The authors declare that the article content was composed in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.