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A 4-year-old boy is brought to the physician due to a progressive headache and neck pain lasting for nearly two weeks. During this period, he has experienced multiple bouts of dizziness and tingling sensations in his arms and hands. He underwent surgical removal of a sac-like protuberance on his lower back, soon after being born. A neurological examination indicates sensorineural hearing loss bilateral and normal gross motor function. Fundoscopy reveals bilateral optic disk swelling. An MRI of the brain is shown. Which of the following is the most likely cause of the patient's symptoms?
A is the correct answer. Chiari II malformation is characterized by the presence of a myelomeningocele along with caudally displaced cerebellar vermis and tonsils, medulla, and fourth ventricle into the upper cervical canal. This caudal displacement can obstruct the flow of cerebrospinal fluid (CSF) and can lead to an accumulation of CSF within the spinal cord (producing a syrinx), or within the cranium (causing hydrocephalus). Patients often present in childhood with evidence of hydrocephalus (e.g., headache, dizziness, papilledema in this patient) and/or syringomyelia (e.g., tingling of the arms and hands in this patient). This patient's MRI confirms hydrocephalus and would also show the malformation.
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