RESUMEN
OBJECTIVE: To describe the case of an African patient who was diagnosed with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). METHODS: Case report and literature review. RESULTS: We present a 39-year-old Gabonese man who developed progressive gait difficulty at the age of 32, followed by insidious tetraparesis, urinary sphincter disturbance, spastic dysarthria, cognitive dysfunction, and seizures. Brain imaging was performed many years after disease onset and revealed diffuse confluent white matter lesions and lacunar infarcts. He tested negative for acquired white matter disease, but genetic screening detected a genetic variant of HTRA1 gene (G283R), which has not been previously reported. CONCLUSIONS: CARASIL is a disease that usually affects Asian patients. This case report describes a unique case of an African patient diagnosed with CARASIL and a novel genetic mutation in HTRA1 that has not been previously described in the literature.
Asunto(s)
Quistes del Sistema Nervioso Central/diagnóstico , Nasofaringe , Neoplasias Faríngeas/diagnóstico , Neoplasias Craneales/diagnóstico , Hueso Esfenoides , Adulto , Quistes del Sistema Nervioso Central/patología , Quistes del Sistema Nervioso Central/cirugía , Humanos , Masculino , Neoplasias Faríngeas/patología , Neoplasias Faríngeas/cirugía , Neoplasias Craneales/patología , Neoplasias Craneales/cirugía , Resultado del TratamientoRESUMEN
OBJECT: Thoracic myelopathy caused by ossification of the ligamentum flavum (OLF) is a rare entity, most evident in Japan. The authors studied the clinical manifestations, radiological aspects, surgical treatment, and pathogenesis of this disease. METHODS: Eighteen patients with OLF-induced thoracic myelopathy underwent laminectomy. The severity of myelopathy varied. Complete paraplegia was seen in three cases. Compression of the upper and middle third of the thoracic spine was evident in six cases and of the lower third in 12 cases. Multilevel OLF was demonstrated in 13 cases. In most cases, the ossified ligamentum flavum appears as a V-shaped lesion on computerized tomography and magnetic resonance images. In all patients the diameter of the posterior spinal canal, already narrowed, was further exacerbated by the OLF. Laminectomy was limited to the levels of compression, and the ligamentum flavum was resected in all cases. The symptoms and signs improved in 13 cases and stabilized in four cases. In one case symptoms recurred as a result of ossified lesions forming at other sites. Histological examination showed that the mode of development of the ossified ligaments was endochondral ossification. CONCLUSIONS: Reports of OLF-induced myelopathy are rare and mainly described in Japan. The incidence also seems high in North Africa. An early laminectomy limited to the level of compression is recommended. Ossified ligamentum flavum is different from the calcification of the ligamentum flavum, which is due to crystal deposits.