Chiari I Malformation Associated with Atlanto-Occipital Assimilation Presenting as Orthopnea and Cough Syncope: A Case Report and Review of Literature

Abstract

Although it is not uncommon for patients with Chiari I malformations to present with respiratory complaints, cough syncope is a rare presenting symptom. We report an adult patient who harbored both a Chiari I malformation and atlanto-occipital assimilation who complained of cough syncope, orthopnea, and central sleep apnea. The patient underwent decompressive craniectomy of the posterior fossa and cervical level 2 laminectomy. However, due to a possible initial underappreciation of the profound narrowing of the foramen magnum as a result of these concomitant pathologies, the patient may have had continued impaired cerebrospinal fluid flow, leading to a symptomatic pseudomeningocele and requiring a more extensive decompression that included a cervical level 3 laminectomy as well as a temporary lumbar drain. On 2-year follow-up, he has remained asymptomatic.

Keywords

Chiari I malformation - atlanto-occipital assimilation - cough syncope - orthopnea - central sleep apnea

• References

• 1 Aaronson DW, Rovner RN, Patterson R. Cough syncope: case presentation and review. J Allergy 1970; 46 (6) 359-363
• 2 O'Doherty DS. Tussive syncope and its relation to epilepsy. Neurology 1953; 3 (1) 16-21
• 3 Williams B. Cough headache due to craniospinal pressure dissociation. Arch Neurol 1980; 37 (4) 226-230
• 4 Williams B. Chronic herniation of the hindbrain. Ann R Coll Surg Engl 1981; 63 (1) 9-17
• 5 Prilipko O, Dehdashti AR, Zaim S, Seeck M. Orthostatic intolerance and syncope associated with Chiari type I malformation. J Neurol Neurosurg Psychiatry 2005; 76 (7) 1034-1036
• 6 Milhorat TH, Chou MW, Trinidad EM , et al. Chiari I malformation redefined: clinical and radiographic findings for 364 symptomatic patients. Neurosurgery 1999; 44 (5) 1005-1017
• 7 Weig SG, Buckthal PE, Choi SK, Zellem RT. Recurrent syncope as the presenting symptom of Arnold-Chiari malformation. Neurology 1991; 41 (10) 1673-1674
• 8 Garland EM, Robertson D. Chiari I malformation as a cause of orthostatic intolerance symptoms: a media myth?. Am J Med 2001; 111 (7) 546-552
• 9 Nogués MA, Newman PK, Male VJ, Foster JB. Cardiovascular reflexes in syringomyelia. Brain 1982; 105 (Pt 4) 835-849
• 10 List CF. Neurologic syndromes accompanying developmental anomalies of the occipital bone, atlas, and axis. Arch Neurol Psychiatr 1941; 45: 577-616
• 11 Speer MC, Enterline DS, Mehltretter L , et al. Review article: Chiari type I malformation with or without syringomyelia: prevalence and genetics. J Genet Couns 2003; 12 (4) 297-311
• 12 Von Torklus D, Gehle W. The Upper Cervical Spine. London: Butterworths; 1972
• 13 Wackenheim A. Roentogen Diagnosis of the Craniovertebral Region. Berlin: Springer-Verlag; 1974
• 14 Caetano de Barros M, Farias W, Ataíde L, Lins S. Basilar impression and Arnold-Chiari malformation. A study of 66 cases. J Neurol Neurosurg Psychiatry 1968; 31 (6) 596-605
• 15 Menezes AH, Ryken TC. Abnormalities of the craniovertebral junction. In: Cheek WR, Marlin AE, MacLone DG, Reigel DH, Walker ML, , eds. Pediatric Neurosurgery, 3rd ed. Philadelphia: Saunders; 1994: 139-158
• 16 Moore KL, Persaud TVN. The Developing Human: Clinically Oriented Embryology. 6th ed. Philadelphia: WB Saunders; 1998
• 17 Di Lorenzo N, Fortuna A, Guidetti B. Craniovertebral junction malformations. Clinicoradiological findings, long-term results, and surgical indications in 63 cases. J Neurosurg 1982; 57 (5) 603-608
• 18 Mesiwala AH, Shaffrey CI, Gruss JS, Ellenbogen RG. Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indicating that Chiari I malformation is a disorder of paraxial mesoderm. Case report and review of the literature. J Neurosurg 2001; 95 (6) 1034-1039
• 19 Shapiro R, Robinson F. Anomalies of the craniovertebral border. AJR Am J Roentgenol 1976; 127 (2) 281-287
• 20 MacRea DL, Barnum AS. Occipilaisation of the atlas. AJR Am J Roentgenol 1953; 70: 23-46
• 21 Menezes AH, VanGilder JC. Anomalies of the craniovertebral junction. In: Youmans J, , ed. Neurological Surgery. 3rd ed. Philadelphia: Saunders; 1990: 1359-1420
• 22 Nishikawa M, Sakamoto H, Hakuba A, Nakanishi N, Inoue Y. Pathogenesis of Chiari malformation: a morphometric study of the posterior cranial fossa. J Neurosurg 1997; 86 (1) 40-47
• 23 Vega A, Quintana F, Berciano J. Basichondrocranium anomalies in adult Chiari type I malformation: a morphometric study. J Neurol Sci 1990; 99 (2-3) 137-145
• 24 Berge JK, Bergman RA. Variations in size and in symmetry of foramina of the human skull. Clin Anat 2001; 14 (6) 406-413
• 25 Coin CG, Malkasian DR. Foramen magnum. In: Newton TH, Potts DG, , eds. Radiology of the Skull and Brain: The Skull. St. Louis: Mosby; 1971: 275-347
• 26 Lang J. Clinical Anatomy of the Posterior Cranial Fossa and Its Foramina. New York: Thieme; 1991
• 27 Muthukumar N, Swaminathan R, Venkatesh G, Bhanumathy SP. A morphometric analysis of the foramen magnum region as it relates to the transcondylar approach. Acta Neurochir (Wien) 2005; 147 (8) 889-895
• 28 Kagawa M, Jinnai T, Matsumoto Y , et al. Chiari I malformation accompanied by assimilation of the atlas, Klippel-Feil syndrome, and syringomyelia: case report. Surg Neurol 2006; 65 (5) 497-502 , discussion 502
• 29 Botelho RV, Bittencourt LR, Rotta JM, Tufik S. A prospective controlled study of sleep respiratory events in patients with craniovertebral junction malformation. J Neurosurg 2003; 99 (6) 1004-1009
• 30 Dauvilliers Y, Stal V, Abril B , et al. Chiari malformation and sleep related breathing disorders. J Neurol Neurosurg Psychiatry 2007; 78 (12) 1344-1348
• 31 Garland EM, Robertson D. Chiari I malformation as a cause of orthostatic intolerance symptoms: a media myth?. Am J Med 2001; 111 (7) 546-552
• 32 Ireland PD, Mickelsen D, Rodenhouse TG, Bakos RS, Goldstein B. Evaluation of the autonomic cardiovascular response in Arnold-Chiari deformities and cough syncope syndrome. Arch Neurol 1996; 53 (6) 526-531
• 33 Botelho RV, Bittencourt LR, Rotta JM, Tufik S. Adult Chiari malformation and sleep apnoea. Neurosurg Rev 2005; 28 (3) 169-176
• 34 Zolty P, Sanders MH, Pollack IF. Chiari malformation and sleep-disordered breathing: a review of diagnostic and management issues. Sleep 2000; 23 (5) 637-643
• 35 Flemons WW, Tsai W. Quality of life consequences of sleep-disordered breathing. J Allergy Clin Immunol 1997; 99 (2) S750-S756
• 36 Botelho RV, Bittencourt LR, Rotta JM, Tufik S. The effects of posterior fossa decompressive surgery in adult patients with Chiari malformation and sleep apnea. J Neurosurg 2010; 112 (4) 800-807