Keohane C, O'Leary J, O'Neill M, Kearney P J
Department of Pathology (Neuropathology Laboratory), Cork Regional Hospital, Ireland.
Neuropathol Appl Neurobiol. 1991 Apr;17(2):163-7. doi: 10.1111/j.1365-2990.1991.tb00708.x.
A case of Hurler's disease is reported in a child with a gibbous deformity of the lumbar vertebrae L1/L2 and a localized diastematomyelia of the spinal cord at L1/L3. The association of an enzyme disorder affecting connective tissue with spinal cord dysraphism has not been reported before, and may be fortuitous. However, as each condition is rare, the occurrence of both gibbous deformity due to Hurler's and diastematomyelia in the same child, makes it unlikely to be a chance association. We suggest that defective neurulation in this case may be related to mesodermal damage associated with mucopolysaccharidosis.
报告了1例患有L1/L2腰椎驼背畸形和L1/L3脊髓局部脊髓纵裂的儿童黏多糖贮积症Ⅰ型（胡勒氏病）病例。影响结缔组织的酶紊乱与脊髓脊柱裂的关联此前未见报道，可能是偶然现象。然而，由于每种情况都很罕见，同一儿童同时出现黏多糖贮积症导致的驼背畸形和脊髓纵裂，不太可能是偶然关联。我们认为该病例中神经胚形成缺陷可能与黏多糖贮积症相关的中胚层损伤有关。
