Lumbosacral lipomyelomeningocele with anomalous osseous limb in a 3-month-old female

Abstract

A patient with lipomyelomeningocele (known in utero) presented for MRI characterization prior to surgical procedure at three months of age. Cross-sectional imaging revealed a spinal dysraphism of the lower lumbar spine, with a posterior spinal defect spanning L4 to S2 subcutaneous fat intrusion, and distal spinal cord extrusion. An osseous excrescence was also appreciated, articulating with the left iliac bone. This case demonstrates the youngest known lipomyelomeningocele with accessory limb and the abnormal growth of multiple tissue types at the site of spinal dysraphism—a potential consequence of dedifferentiated cell proliferation originating from a secondary neural tube defect or rachipagus parasitic twinning.

Anomalous osseous limb: A sneak peek into rare association with lipomyelomeningocele – A case report

“…[1] The association of anomalous osseous limb with spinal dysraphism is rare. [1][2][3][4][5][6] Such association was first described by Krishna et al in 1989. [4] Gardner and Egar hypothesis proposes lipomyelomeningoceles to be a secondary NTD, where rupture of neural tube beneath an intact ectoderm leads to accumulation of proteinaceous fluid under skin, serving as rich source of Schwann cells, which further dedifferentiates into non-neural elements such as fat, cartilage, bone, nerves, muscle, or finally into an accessory limb.…”

Cartilage within lipomyelomeningocele and ulnar longitudinal deficiency syndrome as VACTERL association, alliance in SHH/GLI3, and Wnt pathway: illustrative case

“…LMMC is one of the primary neurulation abnormalities with premature disjunction of surface ectoderm from the neuroectoderm, resulting in mesenchymal tissue attachment on the developing neural tissue, which develops into fatty tissue. 3 There have been few reports of LMMC with an accessory limb attached to the mass and anomalous bone, 4 – 12 but there is no, to the best of our knowledge, published case of LMMC with well-developed cartilage, atrial septal defect, and ulnar longitudinal deficiency in a form of VACTERL association.…”

A rare case of thoracic lipomyelomeningocele in a young female: A case report

“…Lipomyelomeningocele is a rare congenital spinal anomaly that is more common in females with the prevalence of 3 to 6 per 100,000 live births. Lipomyelomeningocele falls into the category of closed spinal dysraphism which occurs because of a primary neurulation defect from nondisjunction, where mesenchymal tissue penetrates the neural placode and forms lipomatous tissue [1] .…”

“…Lipomyelomeningocele is a closed neural tube defect that occurs due to failure of primary neurulation and occurs in approximately 3-6 out of 100,000 live births [1] . It is characterized by a subcutaneous lipoma that is generally located in the lumbar or sacral region in the midline or slightly off the midline [2] .…”