Portal de Periódicos da CAPES

Death by Syrinx

1996; Elsevier BV; Volume: 109; Issue: 3 Linguagem: Inglês

10.1378/chest.109.3.598

1931-3543

Gary S. Kabinoff, K. C. Sharma, Robert D. Brandstetter,

Neuroscience of respiration and sleep

Sleep disordered breathing is relatively common in the population, with sleep apnea syndrome (SAS) representing the most serious manifestation.1Lavie P Incidence of sleep apnea in a presumably healthy working population: a significant relationship with excessive daytime sleepiness.Sleep. 1983; 6: 312-318Crossref PubMed Scopus (243) Google Scholar 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.2Strohl KP Sleep apnea syndrome and sleep disordered breathing.in: Baum GL Wolinsky E Textbook of pulmonary diseases. Little Brown and Company, Boston1994: 1102Google Scholar Few would argue, however, that diseases linked to Ondine's curse represent singular disorders associated with predictable fatal central apnea if not identified.3Severinghaus JW Mitchell RA Ondine's curse: failure of respiratory center automaticity while awake.Clin Res. 1962; 10: 122Google Scholar After our patient died of syringomyelia (SM)/syringobulbia (SB),4Kabinoff G Brandstetter RD Syringomyelia, hypoventilation syndrome and unilateral vocal cord paralysis: a diagnostic dilemma. April 1, New York1995Google Scholar 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,5Guilleminault C Stoohs R Quera-Salva M Sleep related obstructive and non-obstructive apneas and neurologic disorders.Neurology. 1992; 42: 53-60PubMed Google Scholar and a chapter in a neurology textbook also does not make the association of SM/SB with symptomatic airway patency problems.6Adams RD Victor M Principles of neurology. 5th ed. McGraw-Hill, New York1993: 1110-1113Google Scholar Accordingly, in view of its lethality,7Nogues MA Gene R Encabo H Risk of sudden death during sleep in syringomyelia and syringobulbia.J Neurol Neurosurg Psychiatry. 1992; 55: 585-589Crossref PubMed Scopus (25) Google Scholar it should receive the recognition, and respect, equally afforded to Ondine's curse.Although Estienne8Estienne C La Dissection des du corps humain.Paris de Colines. 1545; : 370Google Scholar was the first to describe cavitations in the spinal cord, and Ollivier D'Angers9Ollivier D'Angers CP Traite de la moelle epiniere et de ses maladies. Crevot, Paris1827: 178-183Google Scholar 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 Schrader10Bodechtel G Schrader A Die Syringomyelie und die spinale gliose.in: Schwiegk H Handbuch der Inneren Medizin. Springer, Berlin1953: 529-556Google Scholar). The etiology and pathogenesis of the disease is largely unknown, although syrinx cavities have now been described in up to 22% of posttraumatic injuries11Squier MV Lehr RP Posttraumatic syringomyelia.J Neurol Neurosurg Psychiatry. 1994; 57: 1095-1098Crossref PubMed Scopus (51) Google Scholar and have been associated with Arnold-Chiari malformation.12Bullock R Todd NV Easton J et al.Isolated central respiratory failure due to syringomyelia and Arnold-Chiari malformation.BMJ. 1988; 297: 1448-1449Crossref PubMed Scopus (37) Google Scholar 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.13Alcala H Dodson WE Syringomyelia as a cause of laryngeal stridor in childhood.Neurology. 1975; 25: 875-878Crossref PubMed Google Scholar Diaphragmatic weakness,14Nogues MA Gene R Diaphragm weakness and syringomyelia.J R Soc Med. 1988; 81: 59PubMed Google Scholar and unilateral and bilateral vocal cord paralysis have been described also.4Kabinoff G Brandstetter RD Syringomyelia, hypoventilation syndrome and unilateral vocal cord paralysis: a diagnostic dilemma. April 1, New York1995Google Scholar, 15Willis WH Weaver DF Syringomyelia with bilateral vocal cord paralysis.Arch Otolaryngol. 1988; 87: 468-470Crossref Scopus (13) Google Scholar Furthermore, hypoventilation syndrome,16Rodman 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: 208-217Abstract Full Text PDF PubMed Scopus (28) Google Scholar apnea,17Haponik EF Givens D Angelo J Syringobulbia-myelia with obstructive sleep apnea.Neurology. 1983; 33: 1041-1047Crossref Google Scholar and sudden death7Nogues MA Gene R Encabo H Risk of sudden death during sleep in syringomyelia and syringobulbia.J Neurol Neurosurg Psychiatry. 1992; 55: 585-589Crossref PubMed Scopus (25) Google Scholar 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.6Adams RD Victor M Principles of neurology. 5th ed. McGraw-Hill, New York1993: 1110-1113Google Scholar 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.6Adams RD Victor M Principles of neurology. 5th ed. McGraw-Hill, New York1993: 1110-1113Google Scholar, 7Nogues MA Gene R Encabo H Risk of sudden death during sleep in syringomyelia and syringobulbia.J Neurol Neurosurg Psychiatry. 1992; 55: 585-589Crossref PubMed Scopus (25) Google ScholarManagement 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.4Kabinoff G Brandstetter RD Syringomyelia, hypoventilation syndrome and unilateral vocal cord paralysis: a diagnostic dilemma. April 1, New York1995Google Scholar, 15Willis WH Weaver DF Syringomyelia with bilateral vocal cord paralysis.Arch Otolaryngol. 1988; 87: 468-470Crossref Scopus (13) Google Scholar, 18Seliger GM Zackson H Nicola L et al.Neurologic improvement following respiratory support in syringomyelia: case report.Paraplegia. 1990; 28: 526-528Crossref PubMed Scopus (1) Google Scholar The only specific therapy for SM/SB is surgical decompression of the foramen magnum and upper cervical canal.6Adams RD Victor M Principles of neurology. 5th ed. McGraw-Hill, New York1993: 1110-1113Google Scholar These procedures, however, have varying results and are largely unpredictable.Unlike acquired Ondine's curse, which may have permanent, but stable disease,19Beal FM Richardson EP Brandstetter RD et al.Localized brainstem ischemic damage and Ondine's curse after near-drowning.Neurology. 1983; 33: 717-721Crossref PubMed Google Scholar 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. Sleep disordered breathing is relatively common in the population, with sleep apnea syndrome (SAS) representing the most serious manifestation.1Lavie P Incidence of sleep apnea in a presumably healthy working population: a significant relationship with excessive daytime sleepiness.Sleep. 1983; 6: 312-318Crossref PubMed Scopus (243) Google Scholar 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.2Strohl KP Sleep apnea syndrome and sleep disordered breathing.in: Baum GL Wolinsky E Textbook of pulmonary diseases. Little Brown and Company, Boston1994: 1102Google Scholar Few would argue, however, that diseases linked to Ondine's curse represent singular disorders associated with predictable fatal central apnea if not identified.3Severinghaus JW Mitchell RA Ondine's curse: failure of respiratory center automaticity while awake.Clin Res. 1962; 10: 122Google Scholar After our patient died of syringomyelia (SM)/syringobulbia (SB),4Kabinoff G Brandstetter RD Syringomyelia, hypoventilation syndrome and unilateral vocal cord paralysis: a diagnostic dilemma. April 1, New York1995Google Scholar 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,5Guilleminault C Stoohs R Quera-Salva M Sleep related obstructive and non-obstructive apneas and neurologic disorders.Neurology. 1992; 42: 53-60PubMed Google Scholar and a chapter in a neurology textbook also does not make the association of SM/SB with symptomatic airway patency problems.6Adams RD Victor M Principles of neurology. 5th ed. McGraw-Hill, New York1993: 1110-1113Google Scholar Accordingly, in view of its lethality,7Nogues MA Gene R Encabo H Risk of sudden death during sleep in syringomyelia and syringobulbia.J Neurol Neurosurg Psychiatry. 1992; 55: 585-589Crossref PubMed Scopus (25) Google Scholar it should receive the recognition, and respect, equally afforded to Ondine's curse. Although Estienne8Estienne C La Dissection des du corps humain.Paris de Colines. 1545; : 370Google Scholar was the first to describe cavitations in the spinal cord, and Ollivier D'Angers9Ollivier D'Angers CP Traite de la moelle epiniere et de ses maladies. Crevot, Paris1827: 178-183Google Scholar 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 Schrader10Bodechtel G Schrader A Die Syringomyelie und die spinale gliose.in: Schwiegk H Handbuch der Inneren Medizin. Springer, Berlin1953: 529-556Google Scholar). The etiology and pathogenesis of the disease is largely unknown, although syrinx cavities have now been described in up to 22% of posttraumatic injuries11Squier MV Lehr RP Posttraumatic syringomyelia.J Neurol Neurosurg Psychiatry. 1994; 57: 1095-1098Crossref PubMed Scopus (51) Google Scholar and have been associated with Arnold-Chiari malformation.12Bullock R Todd NV Easton J et al.Isolated central respiratory failure due to syringomyelia and Arnold-Chiari malformation.BMJ. 1988; 297: 1448-1449Crossref PubMed Scopus (37) Google Scholar 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.13Alcala H Dodson WE Syringomyelia as a cause of laryngeal stridor in childhood.Neurology. 1975; 25: 875-878Crossref PubMed Google Scholar Diaphragmatic weakness,14Nogues MA Gene R Diaphragm weakness and syringomyelia.J R Soc Med. 1988; 81: 59PubMed Google Scholar and unilateral and bilateral vocal cord paralysis have been described also.4Kabinoff G Brandstetter RD Syringomyelia, hypoventilation syndrome and unilateral vocal cord paralysis: a diagnostic dilemma. April 1, New York1995Google Scholar, 15Willis WH Weaver DF Syringomyelia with bilateral vocal cord paralysis.Arch Otolaryngol. 1988; 87: 468-470Crossref Scopus (13) Google Scholar Furthermore, hypoventilation syndrome,16Rodman 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: 208-217Abstract Full Text PDF PubMed Scopus (28) Google Scholar apnea,17Haponik EF Givens D Angelo J Syringobulbia-myelia with obstructive sleep apnea.Neurology. 1983; 33: 1041-1047Crossref Google Scholar and sudden death7Nogues MA Gene R Encabo H Risk of sudden death during sleep in syringomyelia and syringobulbia.J Neurol Neurosurg Psychiatry. 1992; 55: 585-589Crossref PubMed Scopus (25) Google Scholar 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.6Adams RD Victor M Principles of neurology. 5th ed. McGraw-Hill, New York1993: 1110-1113Google Scholar 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.6Adams RD Victor M Principles of neurology. 5th ed. McGraw-Hill, New York1993: 1110-1113Google Scholar, 7Nogues MA Gene R Encabo H Risk of sudden death during sleep in syringomyelia and syringobulbia.J Neurol Neurosurg Psychiatry. 1992; 55: 585-589Crossref PubMed Scopus (25) Google Scholar 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.4Kabinoff G Brandstetter RD Syringomyelia, hypoventilation syndrome and unilateral vocal cord paralysis: a diagnostic dilemma. April 1, New York1995Google Scholar, 15Willis WH Weaver DF Syringomyelia with bilateral vocal cord paralysis.Arch Otolaryngol. 1988; 87: 468-470Crossref Scopus (13) Google Scholar, 18Seliger GM Zackson H Nicola L et al.Neurologic improvement following respiratory support in syringomyelia: case report.Paraplegia. 1990; 28: 526-528Crossref PubMed Scopus (1) Google Scholar The only specific therapy for SM/SB is surgical decompression of the foramen magnum and upper cervical canal.6Adams RD Victor M Principles of neurology. 5th ed. McGraw-Hill, New York1993: 1110-1113Google Scholar These procedures, however, have varying results and are largely unpredictable. Unlike acquired Ondine's curse, which may have permanent, but stable disease,19Beal FM Richardson EP Brandstetter RD et al.Localized brainstem ischemic damage and Ondine's curse after near-drowning.Neurology. 1983; 33: 717-721Crossref PubMed Google Scholar 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.