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Anterior sacral meningocele in a patient with Marfan syndrome
1Department of Pediatrics, Università Cattolica Sacro Cuore, Rome, Italy. iclpe@rm.unicatt.it
Abstract:
Anterior sacral meningocele has been reported to be associated with Marfan syndrome (MFS) in few cases, differently from dural ectasia appearing up to two thirds of affected patients. A new instance of this association is described in an 18-year-old man with Marfan syndrome, diagnosed upon MRI morphological evaluation which showed a huge cystic mass in the pelvic space. Surgical excision even if curative was not performed in consideration of a stationary picture after one year since diagnosis.
Insights
Anterior sacral meningocele is rarely linked to Marfan syndrome (MFS). This case highlights a rare association, presenting a large pelvic mass in an MFS patient diagnosed via MRI.
Area of Science:
- Neuroscience
- Genetics
- Radiology
Background:
- Marfan syndrome (MFS) is a genetic connective tissue disorder.
- Dural ectasia is a common finding in MFS, affecting up to two-thirds of patients.
- Anterior sacral meningocele (ASM) is a rare condition involving a cystic protrusion of the dura mater.
Observation:
- A case study of an 18-year-old male with Marfan syndrome is presented.
- MRI revealed a large cystic mass in the pelvic region, consistent with ASM.
- The condition remained stable over a one-year follow-up period.
Findings:
- This report describes a rare association between Marfan syndrome and anterior sacral meningocele.
- The diagnosis was confirmed through detailed MRI morphological evaluation.
- The observed ASM was a significant pelvic mass.
Implications:
- This case expands the known spectrum of connective tissue abnormalities in Marfan syndrome.
- It emphasizes the importance of considering ASM in MFS patients presenting with pelvic masses.
- Further research may elucidate the underlying mechanisms connecting MFS and ASM.
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