TY - JOUR
T1 - Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
AU - Castori, Marco
AU - Morlino, Silvia
AU - Ritelli, Marco
AU - Brancati, Francesco
AU - De Bernardo, Carmelilia
AU - Colombi, Marina
AU - Grammatico, Paola
PY - 2014/2
Y1 - 2014/2
N2 - Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. LMS has been observed in eleven patients with two instances of vertical transmission, and seven sporadic cases with an age at diagnosis ranging from 25 months to 33 years. We report on a further observation of LMS in a 55-year-old woman presenting with a long history of joint instability, chronic musculoskeletal pain, and iatrogenic bladder and anorectal dysfunction due to irreversible nerve damage after surgical excision of a meningeal cyst. Her clinical characteristics are compared with those of previously reported patients, as well as two further cases originally diagnosed with Hajdu-Cheney and Ehlers-Danlos syndromes, but displaying typical features of LMS.
AB - Lateral meningocele syndrome (LMS) is a rare hereditary connective tissue disorder characterized by pan-spinal meningoceles, specific facial dysmorphism, skeletal and soft tissue abnormalities, and hypotonia and/or muscle weakness. LMS has been observed in eleven patients with two instances of vertical transmission, and seven sporadic cases with an age at diagnosis ranging from 25 months to 33 years. We report on a further observation of LMS in a 55-year-old woman presenting with a long history of joint instability, chronic musculoskeletal pain, and iatrogenic bladder and anorectal dysfunction due to irreversible nerve damage after surgical excision of a meningeal cyst. Her clinical characteristics are compared with those of previously reported patients, as well as two further cases originally diagnosed with Hajdu-Cheney and Ehlers-Danlos syndromes, but displaying typical features of LMS.
KW - Connective tissue
KW - Dural ectasias
KW - Joint hypermobility
KW - Management
KW - Tarlov cyst
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U2 - 10.1002/ajmg.a.36301
DO - 10.1002/ajmg.a.36301
M3 - Article
C2 - 24311540
AN - SCOPUS:84892838288
VL - 164
SP - 528
EP - 534
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 2
ER -