Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome
A 16-year-old, formerly healthy boy admitted to the outpatient clinic with occasional headache and neck pain. On physical examination it was remarked that he had characteristic features of syndromic craniosynostoses: Hypertelorism, proptosis, midfacial hypoplasia, and abnormal head shape [Figures and ]. However, the patient and his family did not admit to a hospital for this reason before, despite prominent Cruzonoid features. The patients’ neurological examination revealed no abnormalities including pinprick, touch, pain, and temperature sensations in both upper extremities. Anteroposterior (AP) and lateral plain radiographs of head and a cranial computed tomography (CT) demonstrated midfacial and orbital hypoplasia, the fusion of bilateral coronal and lambdoid sutures and sagittal suture, alongside with the increase of AP diameter of the head [Figures and ]. The patient did not have a history of delayed maturation. His psychomotor development was completely normal. The patient did not suffer from any systemic disorders including chronic hypertension. Fundoscopic examination showed no papilledema. Cranial and spinal magnetic resonance imaging (MRI) studies were obtained and it showed a 18 mm cerebellar tonsil herniation into the foramen magnum with accompanying syringomyelia between Th 4 and Th 7 []. Surgery was planned in order to decompress the posterior cranial fossa. Using a median incision, a suboccipital craniectomy, total C1 arcusectomy and partial C2 laminectomy was performed. The dura was opened in Y-form and after arachnoid dissection duraplasty was performed. There were no significant events in the postoperative course and the patient was discharged from the hospital with no neurological deficits. The patient was then referred to the genetics department for the further evaluation of the craniosynostosis. Phenotypical features like the typical dismorphic facies, ocular proptozis and hypertelorism, parrot-like nose, and frontal bossing alongside with the patients’ mothers’ history of four recurrent intrauterine fetal losses supported the diagnosis of Crouzon syndrome in our patient. Regular follow-up examinations were scheduled for the observation of orbital deformities and vision. Control MRI showed complete resolution of the tonsillar herniation and significant reducement of the syringomyelia both in length and thickness [Figures and ]. Four years after the operation the patient is still doing well with no neurological or ocular deficits and with the relief of his symptoms at the admission.