A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated meningomyelocele. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an encephalocele. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include torticollis; opisthotonus; headache; vertigo; vocal cord paralysis; apnea; nystagmus, congenital; swallowing difficulties; and ataxia. (From Menkes, Textbook of child neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)

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