Acta Neurochir DOI 10.1007/s00701-015-2456-y

LETTER TO THE EDITOR - SPINE

Co-occurrence of thoracolumbar intramedullary lipoma and intracranial lipoma during Gardner’s syndrome: a rare occurrence Türker Acar 1 & Duran Efe 2 & Kazım Gemici 3 & Mustafa Gölen 4

Received: 17 March 2015 / Accepted: 19 May 2015 # Springer-Verlag Wien 2015

Dear Editor, It was with great interest that we read the paper by Kabir et al. [3] and the related papers regarding spinal cord lipomas in Acta Neurochirurgica. True intramedullary lipomas of the spinal cord are extremely rare mass lesions that have been reported only as single-case presentations [3, 4]. Intracranial lipomas are also rare, as their spinal counterparts constitute less than 1 % of intracranial mass-occupying lesions [8]. Herein, we report on a rare case of a thoracolumbar intramedullary lipoma with an

Electronic supplementary material The online version of this article (doi:10.1007/s00701-015-2456-y) contains supplementary material, which is available to authorized users. * Türker Acar [email protected] 1

Department of Radiology, Abant Izzet Baysal University School of Medicine, Izzet Baysal Education and Training Hospital, Sağlık Mh. Şehitler Cad., 14300 Bolu, Turkey

2

Department of Radiology, Mevlana University School of Medicine, Konya, Turkey

3

Department of Surgery, Mevlana University School of Medicine, Konya, Turkey

4

Department of Neurosurgery, Mevlana University School of Medicine, Konya, Turkey

accompanying intracranial lipoma on the background of Gardner’s syndrome (GS). A 50-year-old woman undergoing regular follow-up examinations due to GS was admitted to our institution with numbness in both legs and difficulty walking. Her medical history described left-sided facial asymmetry because of a known osteoma (Fig. 1) as well as epilepsy controlled with diphenylhydantoin sodium (100 mg/day). A cranial computed tomography (CT) revealed a large lipoma in the middle cranial fossa and in both cerebellopontine angles (Fig. 2a). A lumbar CT and magnetic resonance imaging (MRI) revealed a giant intramedullary lipoma measuring 13 cm in the craniocaudal direction involving the thoracolumbar cord, which caused a tethered cord (Fig. 2b–d). The neurosurgeon recommended a surgical operation after reviewing the radiological findings. However, due to the patient’s recurrent surgical procedures and persistent desmoid tumour history in the old abdominal surgical site, she refused the surgical procedure. The patient is still receiving follow-up care, taking anti-epileptic medication and undergoing regular radiological scans. GS, a variant of familial adenomatous polyposis, is characterised by intestinal polyposis, desmoid tumours, osteomas, epidermoid cysts, dental abnormalities and periampullary carcinomas [2]. Countless polyps in the colon are associated with a predisposition to develop colon cancer; if the colon is not totally removed, a total proctocolectomy is required in patients diagnosed with GS. GS is rarely associated

Acta Neurochir Fig. 1 a Axial computed tomography (CT) image shows a giant left-sided osteoma arising from the left mandible. b Threedimensional (3-D) CT image of the skull using a volumetric rendering technique shows left facial asymmetry due to mandible osteoma (white arrows). Note that there are also maxillary sinus and frontal bone osteomas (black arrows)

with subcutaneous lipomas like other genetic disorders (e.g. hereditary multiple lipomatosis, adiposis dolorosa and Madelung’s disease) [5]. Although lipomas are often located in the subcutaneous tissues of the head neck, shoulders, and back, they are rarely located in the cranium or spine [3, 8]. In the current case, we observed a subcutaneous lipoma in the left maxillofacial region adjacent to the left temporalis muscle, which is consistent with the literature. Our case is unique as, to the best of our knowledge, the cooccurrence of intracranial and thoracolumbar intramedullary lipomas in GS has never been reported. Intracranial and intramedullary lipomas are congenital malformations rather than true neoplasms. Intracranial lipomas are composed of adipose tissue that is not normally present in the central nervous system (CNS). They result from maldifferentiation and abnormal persistence of the embryonic meninx primitiva during the development of subarachnoid cisterns [7]. There are two possible explanations for the development of intramedullary lipomas: (1) residual totipotent cells in the caudal cell mass may inadvertently

differentiate into fatty tissue during the process of secondary neurulation [6], or (2) some mesodermal cells with the potential to form fat tissue may be misplaced in conjunction with those cells destined to form the neural tube during neurulation [1]. Symptomatic intracranial lipomas that cause epilepsy should be surgically treated [8]. In the current case, the intracranial lipoma likely caused epilepsy, which was controlled with medication. Despite bilateral cerebellopontine angle involvement, neither cranial nerve deficits nor cerebellar findings were observed in our case. The neurosurgeon recommended maintenance treatment with diphenylhydantoin and radiological scans at regular intervals for the intracranial lipomas. True intramedullary lipoma is very rare, with few case series reported in the literature [3, 4]. The current case presented with symptomatic spinal cord involvement due to a tethering distal to the lipoma. After radiological diagnosis, the neurosurgeon planned a partial resection and additional laminectomy or laminoplasty. Unfortunately, the current patient refused surgery for

Acta Neurochir

the intramedullary lipoma, despite being informed about possible undesired neurological outcomes related to spinal cord lipomas. In conclusion, intracranial and intramedullary lipomas are rare mass lesions in the central nervous system (CNS). The coexistence of a thoracolumbar intramedullary and an intracranial lipoma in the same patient is an extremely rare occurrence. Our experience suggests that complete CNS radiological scanning is necessary in patients with the diagnosis of GS who present with neurological symptoms to exclude possible CNS lipomas. Patient consent The patient has consented to the submission of the case report for submission to the journal. Conflicts of interest None.

References 1.

Fig. 2 Axial cranial CT image (a) shows hypodense lipomas in the middle cranial fossa (asterisk) and in both cerebellopontine angles (black arrows). Note that there is also a left-sided facial lipoma close to the left temporal muscle (white arrows). Sagittal reconstructions of spinal CT (b), T1-weighted (c), and T2-weighted sagittal (d) spinal magnetic resonance (MR) images reveal an intramedullary spinal cord lipoma in the thoracolumbar region (hypodense on the CT image and hyperintense on the MRI sequences). Note that the conus medullaris terminates at the level of the lumbar (L)3 vertebra, consistent with a tethered cord (d). Posterior corpuses of the thoracolumbar vertebrae are scalloped due to intramedullary lipoma (arrowheads). There are also multiple haemangiomas in the lumbar vertebrae

French BN (1983) The embryology of spinal dysraphism. Clin Neurosurg 30:295–340 2. Gómez García EB, Knoers NV (2009) Gardner’s syndrome (familial adenomatous polyposis):a cilia-related disorder. Lancet Oncol 10: 727–735 3. Kabir SM, Thompson D, Rezajooi K, Casey AT (2010) Nondysraphic intradural spinal cord lipoma: case series, literature review and guidelines for management. Acta Neurochir (Wein) 152:1139– 1144 4. Lee M, Rezai AR, Abbott R, Coelho DH, Epstein FJ (1995) Intramedullary spinal cord lipomas. J Neurosurg 82:394–400 5. Noterman J, Massager N, Vloeberghs M, Brotchi J (1998) Monstrous skull osteomas in a probable Gardner’s syndrome: case report. Surg Neurol 49:302–304 6. Till K (1968) Spinal dysraphism: a study of congenital malformations of the back. Dev Med Child Neurol 10:470– 477 7. Truwit CL, Barkovich AJ (1990) Pathogenesis of intracranial lipoma: an MR study in 42 patients. AJR Am J Roentgenol 155:855–864 8. Yilmaz N, Unal O, Kiymaz N, Yilmaz C, Etlik O (2006) Intracranial lipomas—a clinical study. Clin Neurol Neurosurg 108:363–368

Co-occurrence of thoracolumbar intramedullary lipoma and intracranial lipoma during Gardner's syndrome: a rare occurrence.

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