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). ... 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.
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 ... 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.