Macrodystrophia Lipomatosa of Thoracic Spine Causing Progressive Neurodeficit

Abstract

Case: We report the first case of a 21-year-old male patient with macrodystrophia lipomatosa (MDL), with local gigantism involving the thoracic spine and progressively worsening neurodeficit. Imaging studies revealed fatty infiltration and hypertrophied intercostal nerves, dextroscoliosis, osseous hypertrophy between C4 and T2, and severe canal stenosis at the T4 to T5 level secondary to lamino-facetal hypertrophy. He underwent debulking of the lesion and posterior instrumented decompression in a staged manner. His neurodeficit improved postoperatively and was ambulant without support at the end of the 2-year follow-up. Conclusion: Surgery in patients with MDL is technically challenging and fraught with complications such as neurological deficit and significant blood loss.

Occult lipomatosis of the nerve as part of macrodystrophia lipomatosa: illustrative case

“…17 As summarized in our recent review of the world's literature (and updated for this review), we have identified 153 cases of MDL (i.e., reported using this term): 79 cases with documented LN and 74 cases that do not comment on nerve abnormality. 1,2,13,[18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] Overgrowth was most commonly reported with LN of the median nerve at the wrist, followed by plantar nerves. The cases that did not comment on nerve involvement, however, lacked of the site of the suspected lesion, yet alone imaging proximally to the lesion.…”