Familial Lumbo–sacral Syringomyelia and the Significance of Developmental Errors of the Spinal Cord and Column

Intramedullary cystic lesions of the conus medullaris.

“…Some authors (Thevenard, 1942;Andre, 1951) question the occurrence of syringomyelia in the lower spinal cord. Nevertheless a high incidence of constitutional defects has been noted among syringomyelia patients and members of their families, the most frequent of which are spina bifida occulta,pes cavus, syndactylism, andchest deformities (Henneberg and Koch, 1923;Chavany and Thiebaut, 1933;Thevenard and Coste, 1935;Jackson, 1949). These defects have been found to occur at times with cystic cavitations of the lumbosacral region, lending support to the developmental aetiology of at least some intramedullary cysts.…”

HSANs: Clinical Features, Pathologic Classification, and Molecular Genetics

“…23,35,65,79,92,107,177 Because only simple hand-held instruments were used, mild tactile loss, given that it was present, might not have been detected. All modalities of sensation may be affected, but the most characteristic ones are loss of pain and thermal sensation.…”

“…170 O'Brien and co-workers described a patient with severe impairment of nociception in feet and hands but with preserved thermal sensation. Such ulceration was not included in subsequent reports, 34,61,92,134,176,183 in kinship "R" of Spillane and Wells, 162 or in the HSAN type I kinship of Ohta and co-workers. Likewise, in the compound action potential of the sural nerve in vitro, the A␣, A␦, and C potentials were greatly decreased in amplitude ( Fig.…”

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“…It is characterized by disease onset in the second to fourth decades of life. 3,6,7 Some patients did not show any involvement of the motor system, whereas others had severe distal muscle weakness and wasting. Uniform sensory loss affecting all sensory modalities usually occurs, although predominant loss of pain and tem-perature sensation is sometimes observed.…”

“…Vibration sense was assessed by use of a graduated tuning fork (1)(2)(3)(4)(5)(6)(7)(8) at four locations bilaterally (ulnar styloid process, fibular head, medial malleolus, and hallux). Tendon reflexes were interpreted as normal, brisk, diminished, or absent.…”