Ondine's curse

Sleep disordered breathing is relatively common in the population, with sleep apnea syndrome (SAS) representing the most serious manifestation.(1) The natural history of SAS is largely unknown, and although degrees of pathophysiology exist (severe, moderate, mild), there is little evidence showing that progression from health to severe disease occurs according to these categories.(2) Few would argue, however, that diseases linked to Ondine's curse represent singular disorders associated with predictable fatal central apnea if not identified.(3) After our patient died of syringomyelia (SM)/syringobulbia (SB),(4) we reviewed the literature, and we acknowledge that this rare disease is equally capable of causing premature respiratory death. This uncommon lesion of the central nervous system is unfamiliar to most pulmonologists. Indeed, a recent comprehensive review on SAS fails to include SM/SB,(5) and a chapter in a neurology textbook also does not make the association of SM/SB with symptomatic airway patency problems.(6) Accordingly, in view of its lethality,(7) it should receive the recognition, and respect, equally afforded to Ondine's curse.

Although Estienne(8) was the first to describe cavitations in the spinal cord, and Ollivier D'Angers(9) coined the term "syringomyelia", the brave Roman Mucius Scaevola was probably the first recorded person suffering from the malady when demonstrating his fearlessness to the king of the Etruscans, Porsenna, he put his hand into a blaze (Mueller quoted by Bodechtel and Schrader(10)). The etiology and pathogenesis of the disease is largely unknown, although syrinx cavities have now been described in up to 22% of posttraumatic injuries(11) and have been associated with Arnold-Chiari malformation.(12) The important pathologic change of syringomyelia is a gliosis that precedes cyst formation. The growing cavity occupies the central portion of the spinal cord, most frequently in the cervical region. It may extend laterally into the gray matter of the anterior and posterior horns of the spinal cord (syringomyelia) or cephalad into the lateral tegmentum of the medulla oblongata (syringobulbia).

The usual symptoms of an invading syrinx are the loss of pain and temperature sensation, with preservation of the sense of touch, position, and vibration. The intimate anatomic location of a syrinx to the central nuclei of respiration and the cranial nerves presents an ominous threat to normal breathing. Respiratory abnormalities are serious and include hoarseness, aspiration, dysphonia, and stridor.(13) Diaphragmatic weakness,(14) and unilateral and bilateral vocal cord paralysis have been described also.(4) (15) Furthermore, hypoventilation syndrome,(16) apnea,(17) and sudden death(7) are additional respiratory hazards of this disorder. Of note is the fact that of the 12 patients described in the literature with SM/SB, 5 did die suddenly.

In view of the number of respiratory disorders that SM/SB are associated with, and the myriad of more common entities equally capable of causing sleep apnea syndrome, SM/SB can be easily overlooked. Accordingly, it seems prudent that a very careful history be obtained (especially for spinal cord trauma) and a thorough neurologic examination be performed in all patients with airway patency problems of obscure etiology. The clinical neurologic picture is so characteristic that diagnosis thereafter is seldom in doubt.(6) Contrast myelography and delayed CT scanning performed with the patient in the supine, head-down position, will usually expose the syrinx. Magnetic resonance imaging can now demonstrate spectacular views of a syrinx in the sagittal plane of the brain and spinal cord.(6),(7)

Management of SAS secondary to SM or SB rests on the nature of the airway patency problem. These techniques include CPAP masks, negative pressure ventilation, positive pressure pneumobelt, tracheostomy, and continuous nocturnal mechanical ventilation.(4),(15),(18) The only specific therapy for SM/SB is surgical decompression of the foramen magnum and upper cervical canal.(6) These procedures, however, have varying results and are largely unpredictable.

Unlike acquired Ondine's curse, which may have permanent, but stable disease,(19) SM/SB tends to be a progressive disorder. Although SAS symptoms may be managed with conventional techniques, effective intervention to limit the growth of the syrinx is not presently available. Accordingly, SM/SB may represent a universally fatal respiratory disease once airway symptoms are noticed.

REFERENCES

(1) Lavie P. Incidence of sleep apnea in a presumably healthy working population: a significant relationship with excessive daytime sleepiness. Sleep 1983; 6:312-18

(2) Strohl KP. Sleep apnea syndrome and sleep disordered breathing. In: Baum GL, Wolinsky E, eds. Textbook of pulmonary diseases. Boston: Little Brown and Company, 1994; 1102

(3) Severinghaus JW, Mitchell RA. Ondine's curse: failure of respiratory center automaticity while awake. Clin Res 1962; 10:122

(4) Kabinoff G, Brandstetter RD. Syringomyelia, hypoventilation syndrome and unilateral vocal cord paralysis: a diagnostic dilemma. American College of Physicians Regional Scientific Meeting. New York: April 1, 1995

(5) Guilleminault C, Stoohs R, Quera-Salva M. Sleep related obstructive and non-obstructive apneas and neurologic disorders. Neurology 1992; 42:53-60

(6) Adams RD, Victor M. Principles of neurology. 5th ed. New York: McGraw-Hill, 1993; 1110-13

(7) Nogues MA, Gene R, Encabo H. Risk of sudden death during sleep in syringomyelia and syringobulbia. J Neurol Neurosurg Psychiatry 1992; 55:585-89

(8) Estienne C. La Dissection des du corps humain. Paris de Colines, 1545; 370

(9) Ollivier D'Angers CP. Traite de la moelle epiniere et de ses maladies. Paris: Crevot, 1827; 178-83

(10) Bodechtel G, Schrader A. Die Syringomyelie und die spinale gliose. In: Schwiegk H, ed. Handbuch der Inneren Medizin. Berlin: Springer, 1953; 529-56

(11) Squier MV, Lehr RP. Posttraumatic syringomyelia. J Neurol Neurosurg Psychiatry 1994; 57:1095-98

(12) Bullock R, Todd NV, Easton J, et al. Isolated central respiratory failure due to syringomyelia and Arnold-Chiari malformation. BMJ 1988; 297:1448-49

(13) Alcala H, Dodson WE. Syringomyelia as a cause of laryngeal stridor in childhood. Neurology 1975; 25:875-78

(14) Nogues MA, Gene R. Diaphragm weakness and syringomyelia. J R Soc Med 1988; 81:59

(15) Willis WH, Weaver DF. Syringomyelia with bilateral vocal cord paralysis. Arch Otolaryngol 1988; 87:468-70

(16) Rodman T, Resnick M, Berkowitz R, et al. Alveolar hypoventilation due to involvement of the respiratory center by obscure disease of the central nervous system. Am J Med 1962; 32:208-17

(17) Haponik EF, Givens D, Angelo J. Syringobulbia-myelia with obstructive sleep apnea. Neurology 1983; 33:1041-47

(18) Seliger GM, Zackson H, Nicola L, et al. Neurologic improvement following respiratory support in syringomyelia: case report. Paraplegia 1990; 28:526-28

(19) Beal FM, Richardson EP, Brandstetter RD, et al. Localized brainstem ischemic damage and Ondine's curse after near-drowning. Neurology 1983; 33:717-21

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