title: Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain.
abstract: 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.
authors: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy.
authors: Marco
authors: M
authors: Castori
authors: Silvia
authors: S
authors: Morlino
authors: Marco
authors: M
authors: Ritelli
authors: Francesco
authors: F
authors: Brancati
authors: Carmelilia
authors: C
authors: De Bernardo
authors: Marina
authors: M
authors: Colombi
authors: Paola
authors: P
authors: Grammatico
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001921:Brain / Q000473:pathology; D057210:Delayed Diagnosis; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000175:diagnosis*; D007719:Knee Joint / Q000002:abnormalities; D008279:Magnetic Resonance Imaging; D008588:Meningocele / Q000175:diagnosis*; D008875:Middle Aged; D059352:Musculoskeletal Pain / Q000175:diagnosis*; D010641:Phenotype
keywords: Tarlov cyst; connective tissue; dural ectasias; joint hypermobility; management