Autosomal dominant syndrome characterized by spinal
cyst formation. Frequent association with Arnold-Chiari Malformation.
Characteristic suspended loss of pain and temperature sensation.
Prevalence is 8.4:100,000 in general population.
Autosomal dominant. It has also been reported after
traumatic injury (acquired disorder).
Chronic syndrome characterized by cavitations and
gliosis of the spinal cord (usually cervical or thoracic), the medulla, or
both. An obstacle to cerebrospinal fluid circulation in the fourth ventricle toward the
subarachnoid space has been evocated to explain the syndrome. It seems
similar to a craniocervical junction malformation such as Chiari type I and
the Arnold-Chiari, which is associated in 84% of cases (intramedullary
tumors and hydrocephalus have been also observed). The cavity, for unknown
reasons, often expands during adolescence or the young adult years.
Clinical (back pain; headaches; stiffness or weakness of
shoulders, arms, or legs; loss of the ability to feel extremes of hot or
cold). Radiography, CT scan, and particularly MRI make diagnosis.
Onset most commonly occurs between the ages of 25
and 40 years, but it can be earlier. First sign is usually paresthesias in
the upper limbs; then loss of pain and temperature sensation in a
characteristic distribution, usually “suspended,” involving arms and trunk
but not legs (because of lesion to the posterior horns and the fascicle of Lissauer
sensory fibers). The progression is very slow. Other clinical features can be
observed that involve neurological function: autonomic pathways such as
Horner Syndrome, skin trophic changes, neurogenic bladder, reduced or absent
reflex in arms, and bilateral Babinski signs. Spastic paraparesis can occur.
Scoliosis is frequent.
Evaluate neurological function with
a precise clinical examination. Locate intramedullary cysts (MRI).
Careful positioning is needed,
particularly in the case of an association with Arnold-Chiari Malformation.
Perimedullar anesthesia should be avoided and is contraindicated at the
level of the cyst because of the size diminution of epidural space.
Somatosensory evoked potential monitoring can be difficult in a case of
scoliosis surgery. There should be no concerns with the intracranial pressure.
Probably best to avoid
succinylcholine because of the increase in intracranial pressure.
Congenital Muscular Dystrophy with Syringomyelia: Disorder
with myopathy, mental retardation and multiple skeletal malformations.
Sarnat HB: Embryology and dysgenesis of the posterior fossa, in Batzdorf U (ed): Syringomyelia: Current Concepts in Diagnosis and Treatment. Baltimore, Williams
& Wilkins, 1991, p 3.