Lateral meningocele syndrome

Lateral meningocele syndrome (LMS), also known as Lehman syndrome, is a rare genetic connective tissue disorder characterized by the presence of lateral meningoceles (protrusions of the meninges through defects in the lateral aspects of the spinal vertebrae). The condition is caused by pathogenic variants in the NOTCH3 gene and affects multiple body systems. Key features include distinctive craniofacial characteristics such as a long face, ptosis (drooping eyelids), low-set ears, a high-arched or cleft palate, and hypertelorism. Skeletal abnormalities are prominent and include vertebral anomalies, scalloping of the vertebral bodies, hypotonia, joint hypermobility, and wormian bones in the skull. Patients may also exhibit short stature, intellectual disability of variable degree, and hearing loss. The lateral meningoceles themselves can cause neurological complications including pain, weakness, and in some cases may require surgical intervention if they enlarge or cause significant nerve compression. Additional features may include cardiac anomalies, urogenital abnormalities, and skin findings such as redundant or loose skin. The syndrome shares some clinical overlap with other connective tissue disorders, particularly Marfan syndrome and other conditions involving dural ectasia, but is distinguished by its specific genetic etiology and pattern of features. Treatment of lateral meningocele syndrome is symptomatic and supportive. Management typically involves a multidisciplinary team including geneticists, neurologists, neurosurgeons, orthopedists, and other specialists as needed. Surgical repair of meningoceles may be necessary in cases with progressive neurological symptoms. Regular monitoring for progression of spinal abnormalities and associated complications is recommended. There is currently no disease-specific therapy, and care focuses on addressing individual manifestations and improving quality of life.

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