Neurofibromatosis type 1 and Chiari type 1 malformation: A case report and literature review of a rare association
| Autor: | João Flávio Mattos Araújo, Marianne Pozetti, Telmo Augusto Barba Belsuzarri, Náira Bueno Seixas, Natalia C. B. Belsuzarri |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Chiari i Asymptomatic neurofibromatosis type 1 03 medical and health sciences 0302 clinical medicine Chiari I malformation medicine In patient Chiari 1 malformation Neurofibromatosis medicine.diagnostic_test business.industry Magnetic resonance imaging medicine.disease syringomyelia nervous system diseases 030220 oncology & carcinogenesis embryonic structures Surgical Neurology International: Skull Base Surgery Neurology (clinical) Radiology medicine.symptom business 030217 neurology & neurosurgery Syringomyelia |
| Zdroj: | Surgical Neurology International |
| ISSN: | 2152-7806 2229-5097 |
| Popis: | Background: The association between neurofibromatosis type 1 (NF-I) and Chiari I malformation (CMI) is rare, and not many studies are reported in the literature. Performing magnetic resonance imaging (MRI) in patients with NF-1 is essential because several cases of Chiari type I are completely asymptomatic. We emphasize the need for inclusion of Chiari I as diagnosis in association with NF-1. Case Description: The patient was a 51-year-old black man who presented with complaints of pain and decreased motion and sensibility of his hands, wrists, and forearms, along with progressive dysarthria. Even though the computed tomography (CT) scan of the skull did not show changes, the MRI showed hydro/syringomyelia in the cervical spine area. Midline suboccipital craniectomy with total laminectomy of c1 and partial laminectomy of c2 was performed; tonsillectomy was also performed for cistern expansion because of intense thickening and obliteration of the obex by the cerebellar tonsils. Following treatment, the patient showed remission of symptoms. Conclusion: NF-1 in association with CMI is rare, and early diagnosis and surgical treatment are essential to slow down the myelopathy; although they prevent neurological damages, patients with NF-1 must remain under doctor's attention in case of association with CMI. Our literature review showed that symptoms can vary and include headache, gait disturbance, and sensory/motor diminution, until asymptomatic patients. Moreover, the incidence of NF-1 is considerably higher in CMI patients in comparison to the global incidence (8.6–11.8% and 0.775%, respectively). The surgical technique must be evaluated case by case according to the degree of cerebrospinal fluid obstruction. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|