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Entry: 186700
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MIM Entry: 186700
Title:
  %186700 SYRINGOMYELIA, ISOLATED
Text:
  
  DESCRIPTION
  
  Syringomyelia (Greek: 'syrinx,' pipe, and 'myelos,' marrow) is a tubular
  cavity in the spinal cord. It can occur sporadically in association with
  spinal cord tumors, inflammatory arachnoiditis, or posttraumatically. It
  is rarely idiopathic (less than 1% of cases). The vast majority of cases
  of syringomyelia are cervical, noncommunicating, and associated with an
  abnormality at the foramen magnum, particularly the Chiari malformation
  type I (CM1; 118420), as well as basilar impression (109500) and
  Dandy-Walker malformation (220200) (Speer et al., 2003; Levine, 2004);
  these cases have shown familial segregation.
  
  CLINICAL FEATURES
  
  Caraceni and Giovannini (1977) reported 4 sibs with syringomyelia who
  had symptom onset in their thirties or forties. Each had variable
  clinical features, including segmental loss of pain and temperature
  sensation, muscle weakness and atrophy of the upper limbs and hands,
  nystagmus, urinary incontinence, and lower limb hyperreflexia and
  spasticity. Radiographic studies of some of the patients showed an
  enlarged foramen magnum and spinal canal.
  
  Busis and Hochberg (1985) reported 2 sisters with syringomyelia. One
  sister reported loss of pain and temperature sensation in the left arm,
  shoulder, and face since age 12 years. She also had right Horner
  syndrome, rotary nystagmus, and absent left gag reflex. Radiographic
  studies showed low-lying cerebellar tonsils and cervical syringomyelia.
  Her sister, mother, and brother had similar symptoms, but radiographic
  examinations were not performed. The authors recognized that
  syringomyelia is often associated with Chiari type I malformation and
  basilar impression, but suggested that this family lacked definite
  anomalies of the craniocervical junction. Autosomal dominant inheritance
  was suggested.
  
  Zakeri et al. (1995) stated that 16 families with syringomyelia had been
  reported since 1899 and noted several early references (Redlich, 1916;
  Barre and Reys, 1924; van Bogaert, 1929). In an accompanying commentary,
  Hoffman (1995) suggested that all familial cases of syringomyelia have a
  primary defect in the region of the foramen magnum resulting in Chiari
  malformation type I or basilar invagination. Syringomyelia results
  secondarily from disordered cerebrospinal fluid (CSF) dynamics occurring
  in this area. Accordingly, some affected members of a family may have
  isolated basilar skull defects whereas others go on to develop
  syringomyelia.
  
  PATHOGENESIS
  
  Gardner (1965) proposed a hydrodynamic mechanism to explain the
  development of communicating syringomyelia based on abnormal delayed
  opening of the roof of the fourth ventricle, persistence of the
  connection between the fourth ventricle and the spinal canal, and high
  CSF pressure pulsations exerted by the choroid plexus. The exaggerated
  pulsations would be directed into the central canal, resulting in
  hydromelia. The central canal could also rupture at various other
  points, resulting in syringomyelia (Levine, 2004).
  
  Williams (1969) postulated that obstruction of the subarachnoid space at
  the level of the foramen magnum could act as a valve allowing CSF to
  flow rostrally more effectively than caudally, resulting in a
  craniospinal pressure dissociation and formation of a cavity.
  
  In a postmortem analysis of 105 patients with syringomyelia, Milhorat et
  al. (1995) concluded that there are 3 distinct types. The first type (47
  cases) encompassed dilations of the central canal that communicated
  directly with the fourth ventricle ('hydromelic') and were associated
  with hydrocephalus and severe birth defects, such as Chiari type II
  malformation and open spina bifida. The second type (23 cases) consisted
  of noncommunicating central canal syrinxes ('syringomyelic') that arose
  at variable distances below the fourth ventricle and were associated
  with disorders that affect CSF fluid dynamics, such as Chiari type I
  malformation and basilar impression. The third group (35 cases) included
  extracanalicular parenchymal syrinxes that did not communicate with the
  central canal and were associated with injurious spinal cord lesions,
  such as trauma, infarction, or hemorrhage. The findings established
  several forms of spinal cord syrinxes with different etiologies and
  pathogenesis.
  
  Levine (2004) proposed a novel theory of the pathogenesis of
  syringomyelia associated with lesions at the foramen magnum. Obstruction
  of the subarachnoid space at the foramen magnum leads to transient
  abrupt changes of CSF pressure with increased pressure rostral to the
  block and decreased pressure caudal to the block. These changes produce
  corresponding changes in transmural venous pressure, causing compression
  of vessels above the site of compression at the foramen magnum and
  dilation of vessels below. This leads to mechanical stress on the spinal
  cord resulting in tissue breakdown and partial disruption of the
  blood-spinal cord barrier, allowing a plasma infiltrate to accumulate in
  the spinal cord forming a syrinx.
  
  ANIMAL MODEL
  
  Ostertag (1930) found dominant inheritance of syringomyelia in rabbits.
  
See Also:
  Barraquer and de Gispert (1936); Goldbladt  (1910); Karplus  (1915);
  Kino  (1927); Tenner  (1928); Van Epps and Kerr (1940)
References:
  1. Barraquer, L.; de Gispert, I.: Die Syringomyelie, eine familiaere
  und hereditaere Krankheit (13 Faelle in 2 Generationen derselben Familie). Dtsch  .
  Z. Nervenheilk. 141: 146-157, 1936.
  
  2. Barre, J.-A.; Reys, L.: Syringomyelie chez le frere et la soeur. Rev.
  Neurol. 31: 521-530, 1924.
  
  3. Busis, N. A.; Hochberg, F. H.: Familial syringomyelia. J. Neurol.
  Neurosurg. Psychiat. 48: 936-938, 1985.
  
  4. Caraceni, T.; Giovannini, P.: Familial syringomyelia: a report
  of four cases. Arch. Psychiat. Nervenkr. 224: 331-340, 1977.
  
  5. Gardner, W. J.: Hydrodynamic mechanism of syringomyelia: its relationship
  to myelocele. J. Neurol. Neurosurg. Psychiat. 28: 247-259, 1965.
  
  6. Goldbladt, A.: Syringomyelie bei Mutter und Tochter: zugleich
  ein Beitrag zur Pathologie des Sympathicus. Dtsch. Med. Wschr. 36:
  1523-1526, 1910.
  
  7. Hoffman, H. J.: Commentary. Surg. Neurol. 44: 53 only, 1995.
  
  8. Karplus, J. P.: Syringomyelie bei Vater und Sohn. Med. Klin. 11:
  1344-1347, 1915.
  
  9. Kino, F.: Ueber heredo-familiaere Syringomyelie (zugleich ein
  Beitrag zur topischen Gliederung im Querschnitt des Vorderhorns). Z.
  Ges. Neurol. Psychiat. 107: 1-15, 1927.
  
  10. Levine, D. N.: The pathogenesis of syringomyelia associated with
  lesions at the foramen magnum: a critical review of existing theories
  and proposal of a new hypothesis. J. Neurol. Sci. 220: 3-21, 2004.
  
  11. Milhorat, T. H.; Capocelli, A. L., Jr.; Anzil, A. P.; Kotzen,
  R. M.; Milhorat, R. H.: Pathological basis of spinal cord cavitation
  in syringomyelia: analysis of 105 autopsy cases. J. Neurosurg. 82:
  802-812, 1995.
  
  12. Ostertag, B.: Die Syringomyelie als erbbiologisches Problem. Verh.
  Dtsch. Ges. Path. 25: 166-174, 1930.
  
  13. Redlich, A.: Syringomyelie bei zwei Brudern. Wien. Med. Wochenschr. 36:
  1404-1406, 1916.
  
  14. Speer, M. C.; Enterline, D. S.; Mehltretter, L.; Hammock, P.;
  Joseph, J.; Dickerson, M.; Ellenbogen, R. G.; Milhorat, T. H.; Hauser,
  M. A.; George, T. M.: Chiari type I malformation with or without
  syringomyelia: prevalence and genetics. J. Genet. Counsel. 12: 297-311,
  2003.
  
  15. Tenner, J.: Syringomyelie bei Vater und Tochter. Dtsch. Z. Nervenheilk. 106:  
  13-25, 1928.
  
  16. van Bogaert, L.: Kyste cerebelleux associe a la syringo-myelo-bulbie
  chex une malade dont la soeur presente une syringomyelie cervicale
  typique. J. Neurol. Psychiat. 29: 146-152, 1929.
  
  17. Van Epps, C.; Kerr, H. D.: Familial lumbosacral syringomyelia. Radiology 35:  
  160-173, 1940.
  
  18. Williams, B.: The distending force in the production of 'communicating
  syringomyelia'. Lancet 294: 189-193, 1969. Note: Originally Volume
  2.
  
  19. Zakeri, A.; Glasauer, F. E.; Egnatchik, J. G.: Familial syringomyelia:
  case report and review of the literature. Surg. Neurol. 44: 48-53,
  1995.
  
Clinical Synopsis:
  INHERITANCE:
     Autosomal dominant
  
  HEAD AND NECK:
     [Face];
     Facial pain;
     Facial numbness;
     [Eyes];
     Nystagmus;
     Horner syndrome;
     [Neck];
     Neck pain
  
  GENITOURINARY:
     [Bladder];
     Urinary incontinence
  
  SKELETAL:
     [Skull];
     Associated with abnormalities at the foramen magnum, especially Chiari
     malformation type I (118420)
  
  MUSCLE, SOFT TISSUE:
     Muscle atrophy in the limbs;
     Muscle weakness
  
  NEUROLOGIC:
     [Central nervous system];
     Unsteady gait;
     Ataxic gait;
     Spasticity of the lower limbs;
     Hyperreflexia, especially of the lower limbs;
     Areflexia of the upper limbs;
     Upper limb weakness;
     Neck pain;
     Arm pain;
     Cranial nerve anomalies;
     Burning pain in the limbs;
     Loss of pain and temperature in a cape-like distribution;
     Touch, vibration, and limb position may or may not be affected;
     Segmental sensory loss, especially of pain and temperature;
     Paresthesias;
     Dysarthria;
     Extensor plantar responses;
     Chiari I malformation on MRI (some)
  
  MISCELLANEOUS:
     Onset of symptoms in second or third decade;
     Many cases are asymptomatic
  
Contributors: 
  Cassandra L. Kniffin - revised: 8/21/2006
  
Creation Date: 
  John F. Jackson: 6/15/1995
  
Edit Dates: 
  joanna: 12/08/2008
  ckniffin: 8/21/2006
  
Contributors: 
  Cassandra L. Kniffin - reorganized: 8/18/2006
  Cassandra L. Kniffin - updated: 8/8/2006
  
Creation Date: 
  Victor A. McKusick: 6/2/1986
  
Edit Dates: 
  terry: 04/08/2009
  carol: 9/24/2007
  carol: 9/13/2007
  carol: 9/11/2007
  wwang: 9/20/2006
  carol: 8/18/2006
  ckniffin: 8/9/2006
  ckniffin: 8/8/2006
  mimadm: 5/10/1995
  carol: 4/1/1992
  supermim: 3/16/1992
  supermim: 3/20/1990
  carol: 1/26/1990
  ddp: 10/27/1989
  
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