J Korean Neurosurg Soc.  2016 Nov;59(6):650-654. 10.3340/jkns.2016.59.6.650.

Giant Intrathoracic Meningocele and Breast Cancer in a Neurofibromatosis Type I Patient

• Malla HP
• Park BJ
• Koh JS
• Jo DJ

• KMID: 2417351
• DOI: http://doi.org/10.3340/jkns.2016.59.6.650

Abstract

Intrathoracic meningoceles are relatively rare entities found in patients with neurofibromatosis type I (NF1). Given that both the BRCA1 and NF-1 genes are located on the same long arm of chromosome 17, one would expect concurrence of neurofibromatosis and breast cancer. However, incidence of such co-disorders is very rare in the literature. Here, the authors report a case of a 50-year-old female patient with NF-1 and concurrent cancer of the left breast, who had a huge bilobulated intrathoracic meningocele with thoracic dystrophic scoliosis, treated surgically via a posterior-only approach for the meningocele and spinal deformity in the same setting.

Keyword

Neurofibromatosis; Meningocele; Breast cancer

MeSH Terms

Arm
Breast Neoplasms*
Breast*
Chromosomes, Human, Pair 17
Congenital Abnormalities
Female
Humans
Incidence
Meningocele*
Middle Aged
Neurofibromatoses*
Neurofibromatosis 1*
Scoliosis

Figure

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  Fig. 1 (A) Photographs of the patient showing axillary freckling and (B) multiple subcutaneous nodules distributed all over the body.

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  Fig. 2 A : Preoperative postero-anterior chest X-ray of the patient showing a hyperdense lesion in the right lung field with significant scoliosis of the thoracic spine. B : Preoperative myelo-CT scan showing a bilobulated, hyperdense cystic mass extending from the third to the eighth thoracic vertebral level, originating from the intervertebral foramen of the right fourth and fifth thoracic vertebrae (star-shaped marks). C : Preoperative T2W1 coronal MRI of the thoracic spine showing the hyperintense cystic mass on right side of the chest with scoliotic deformity.

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  Fig. 3 Post-operative PET scan of the patient showing increased uptake in the region of the left breast suspicious for breast carcinoma.

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  Fig. 4 Postoperative antero-posterior (A) and lateral (B) chest radiographs showing complete removal of the intrathoracic meningocele with significant correction of the scoliotic angles with screws and rods in situ.

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  Fig. 5 A : Intraoperative photograph showing meningocele (arrow). B : Defect formed after excision of the cyst (arrow). C : Obliteration of the defect with the subcutaneous fat graft (arrow).

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  Fig. 6 Follow-up chest X-ray showing recurrence of meningocele in the upper lobe of the right lung with satisfactory correction of the kyphoscoliosis.

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