Familial Chiari Malformation

Case Series

Benjamin D. Schanker, B.S.; Brian P. Walcott, M.D.; Brian V. Nahed, M.D.; Kristopher T. Kahle, M.D., Ph.D.; Yan Michael Li, M.D., Ph.D.; Jean-Valery C. E. Coumans, M.D.

Disclosures

Neurosurg Focus. 2011;31(3):e1 

In This Article

Case Series

Family 1

Case 1a This 20-year-old woman presented with a several-year history of suboccipital tussive and exertional headaches worsening over 6 months and associated with a sensation of dizziness, upper-extremity paresthesias, and numbness. The patient was referred to our center by her mother, who had previously undergone CM decompression. Her symptoms had an insidious onset, and at the time of presentation, she was experiencing progressive and increasingly bothersome daily headaches. Secondary symptoms also included chronic headaches, anxiety, fatigue, and insomnia. Physical examination revealed diffuse spasticity in the upper extremities and abnormal coordination, with a decreased ability to perform rapidly alternating movements, worse on the left side. Passive movement of the extremities revealed marked hypertonia over the left knee greater than the right knee and over the ankles without sustained clonus. Reflexes were Grade 3+/5 over the right side and Grade 3+/5 with spread over the left side, including the biceps, triceps, brachial radialis, knee, and ankle.

Magnetic resonance imaging of the cervical spine demonstrated a CM in which the cerebellar tonsils extended 9 mm below the level of the foramen magnum down to the posterior arch of C-1. Cerebrospinal fluid was identified ventral but not dorsal to the spinal cord. The patient underwent a suboccipital craniectomy, C-1 laminectomy, and autologous expansion duraplasty. Postoperatively, the patient's symptoms remained stable. Rapid, alternating movements remained diminished at baseline over both upper extremities, and passive movement of the lower extremities demonstrated persistent hypertonia. Of note, this patient has a sister with typical CM symptoms who refuses to undergo neuroimaging.

Case 1b This patient, the mother of the patient in Case 1a, originally presented at age 57 years with a longstanding history of multiple symptoms, including suboccipital headaches radiating upward, a burning sensation in the eyes, tearing, paresthesias radiating in both upper extremities in a vague distribution, numbness, and tussive and exertional headaches. Magnetic resonance imaging of the cervical spine demonstrated a CM with the cerebellar tonsils descending 7 mm below the level of the foramen magnum. The patient underwent a suboccipital craniotomy, C-1 laminectomy, and autologous expansion duraplasty. Postoperatively, the patient's symptoms resolved.

Family 2

Case 2a This 23-year-old woman was referred by her ophthalmologist for blurry, deteriorating left-sided vision and left lower-extremity spasticity. Neurological examination demonstrated hypertonia, hyperreflexia of her lower extremities, clonus, and gait difficulties. Magnetic resonance imaging of the cervical spine demonstrated CM in which the cerebellar tonsils descended 17 mm below the level of the foramen magnum. The patient underwent a suboccipital craniectomy, C-1 laminectomy, and autologous expansion duraplasty. Postoperatively she had total resolution of her symptoms and plateauing of visual deterioration.

Case 2b This 62-year-old mother of the patient in Case 2a presented at the urging of her daughter. She first noticed a decreased cervical range of motion without significant cervicalgia. Over the course of a year she developed pain bilaterally over the sternocleidomastoid and trapezius muscles and suffered an episode of nighttime dyspnea. She also experienced pain in her fingertips and arms, paresthesias, numbness, and coordination difficulties, as well as occasional problems with paraphasic errors while typing. Examination revealed decrease cervical range of motion, hyperreflexia, and decreased strength diffusely. Magnetic resonance imaging of the cervical spine identified CM in which the cerebellar tonsils descended 6 mm below the level of the foramen magnum and severe cervical spondylosis. The patient experienced significant relief of symptoms with nonsurgical management of her spondylosis; no CM decompression was performed.

Family 3

Case 3a This 24-year-old woman presented with progressive symptoms of suboccipital headache, paresthesias, and tingling in her fingers, a sensation of abnormal hearing, and difficulty focusing while reading. She also had a history of other, migrainelike headaches over the frontal region, with the presence of visual auras. The symptoms were exacerbated by activity, including bearing down, bending over, and lifting objects, and the symptoms were alleviated with rest. Physical examination was significant for detecting mild hyperreflexia but no hypertonia on passive movement of the extremities. Magnetic resonance imaging of the cervical spine demonstrated CM in which the cerebellar tonsils descended 8 mm below the foramen magnum. The patient is scheduled to undergo a suboccipital craniectomy, C-1 laminectomy, and autologous expansion duraplasty.

Case 3b This 44-year-old father of the patient in Case 3a presented with an 8-month history of worsening diplopia, incoordination, vertigo, and sensory complaints of left facial numbness and left-hand numbness. Just prior to his evaluation, he had experienced several weeks of constant vertigo and nystagmus resulting in vertical diplopia. The patient also described occasional suboccipital headaches with wet hair or a breeze against his head, as well as generalized weakness on his left side and a loss of left hand proprioception. Neurological examination revealed left to right rotary nystagmus in both eyes, worse with the left gaze, but present in all directions. With attempted fixation, his left eye was noted to drift upward with rotary nystagmus. Left-sided facial sensation was subjectively decreased to light touch and temperature. Reflexes and tone were noted to be normal bilaterally. Mild ataxia and a mild intentional tremor were also noted in the left hand. Magnetic resonance imaging of the cervical spine demonstrated CM in which the cerebellar tonsils descended 8 mm below the foramen magnum; there was associated syringomyelia.

The patient underwent a suboccipital craniectomy, C-1 laminectomy, and autologous expansion duraplasty. Postoperatively, a CSF leak developed and was treated with reoperation for primary closure. The patient also developed a supratentorial subdural hemorrhage that required bur hole drainage. His outcome was not ideal, with chronic complaints of headaches and dizziness persisting.

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