Neurosurg Rev DOI 10.1007/s10143-015-0630-6

CASE REPORT

Endoscopic endonasal resection of clival xanthoma: case report and literature review Laura González-García 1 & Beatriz Asenjo-García 2 & María Dolores Bautista-Ojeda 3 & Miguel Domínguez-Páez 1 & Lorena Romero-Moreno 1 & Álvaro Martín-Gallego 1 & Miguel Ángel Arráez-Sánchez 1

Received: 21 March 2014 / Accepted: 1 February 2015 # Springer-Verlag Berlin Heidelberg 2015

Abstract Bone xanthoma is an extremely rare and benign tumor in terms of its nature and growth over time. We describe the first case coexisting with ventriculomegaly secondary to aqueduct stenosis (non-tumoral hydrocephalus), the second xanthoma of the clivus described to date. The patient was a 51-year-old woman with headaches and absence seizures. Axial T1-weighted MRI showed a well-demarcated, hypointense, osteolytic, 25×18×15 mm lesion with cortical erosion located at the right margin of the clivus. Sagittal T2weighted MRI demonstrated a hypointense mass without associated edema. Sagittal gadolinium-enhanced T1-weighted MRI showed contrast uptake with a partially hypointense rim. The increased ventricular size without periventricular edema was associated with aqueduct stenosis, and there was no contiguity with the tumor. A neuronavigation imageguided transsphenoidal approach was chosen to perform a macroscopically complete resection. Intraoperative histopathological study showed a chordoma of the clivus. Exhaustive postsurgical study revealed the benign nature of a bone xanthoma. Given the finding of a clival lesion, the differential diagnosis is essentially with other malignant entities with a rapidly fatal outcome, such as metastases, or with a possible invasive evolution, such as clivus chordomas. This report describes the clinical, radiological, and pathological keys for

* Laura González-García [email protected] 1

Department of Neurosurgery, Carlos Haya University Hospital, Malaga, Spain

2

Department of Radiology, Carlos Haya University Hospital, Malaga, Spain

3

Department of Pathology, Carlos Haya University Hospital, Malaga, Spain

such differentiation in order to avoid unnecessarily aggressive treatment with ablative surgery and radiotherapy. Keywords Benign lesion . Bone xanthoma . Chordoma . Clivus . Transsphenoidal approach

Abbreviations CSF Cerebrospinal fluid CT Computed tomography GFAP Glial fibrillary acidic protein MRI Magnetic resonance image

Introduction Bone xanthoma is an extremely rare and benign tumor in terms of its nature and growth over time [1]. This entity seems to be the consequence of an abnormal accumulation of cholesterol or triglycerides in the histiocytes of this territory. The finding of xanthoma as an intraosseous long-bone lesion has been reported more frequently and generally in association with metabolic disorders such as hyperlipidemia or diabetes mellitus. Its location affecting the skull is unusual. We describe the first reported case coexisting with ventriculomegaly secondary to aqueduct stenosis (non-tumoral hydrocephalus), and the second case of xanthoma of the clivus [2]. In addition, we also define the differential diagnosis with other malignant entities given the finding of a clival tumor. Entities to be considered include the following: chordoma, metastasis, fibrous dysplasia, osteomyelitis, ectopic pituitary adenoma, chondrosarcoma, plasmacytoma, and epidural hematoma. We describe the clinical, radiological, and pathological keys for diagnosis in order to avoid unnecessarily aggressive treatment with ablative surgery and radiotherapy.

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Case report The patient was a 51-year-old woman who had been followed in another institution because of chronic headache and absence seizures. Past medical history included fibromyalgia and primary adrenal insufficiency. No hypercholesterolemia or hypertriglyceridemia was recorded. Neurological exam of the higher functions was normal. Cranial nerve functions were preserved, and sensory and motor examination were unremarkable. The reflex responses had no clinical significance, and no sphincter disturbance was reported. A slightly unsteady gait was observed. MRI (Figures 1–3) Fig. 2 Axial T2-weighted MRI (23×15 mm)

Axial T1-weighted magnetic resonance imaging (MRI) showed a well-demarcated hypointense osteolytic lesion with cortical erosion located at the right margin of the clivus. The mass at this time measured 23×18×13 mm. T2-weighted MRI demonstrated a hypointense mass with no associated edema. Gadoliniumenhanced MRI showed contrast uptake of the mass with a partially hypointense rim. An increased ventricular size with no periventricular edema was associated with aqueduct stenosis, and no contiguity with the injury was found. Imaging follow-up 2 years later showed minimal growth, with the lesion measuring 25×18×15 mm (Figs. 1, 2, and 3). Treatment Once the patient was referred to our institution, and unable to determine the benign nature of the lesion, we chose an endoscopic transsphenoidal approach to perform resection. Intraoperative imaging using neuronavigation was used to determine the exact location and boundaries of the lesion. Identification of the tumor was possible from morphological features

Fig. 1 Sagittal T2-weighted MRI (13×19 mm)

of off-white to pale yellow osseous tissue, and the border could also be delimited on palpation of the tumor as a thin solid layer surrounding a porous interior (Fig 4). Gross resection and drilling of the boundaries of the adjacent bone was performed. A small dural tear during the procedure required engraftment of autologous fat tissue, after which nasal packing was completed. Postoperative computed tomography (CT) showed no surgical complications, and the previous ventriculomegaly was stable. The Foley catheter was removed on the fifth postoperative day in the absence of a cerebrospinal (CSF) fistula. During the immediate postoperative period, the patient developed transient diabetes insipidus and hyperthyroidism, with no symptoms and a negative endocrinological study; the origin was thought to be factitious.

Fig. 3 Coronal T1-weighted MRI (25×18 mm)

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Fig. 4 Surgical removal of the tumor. Note the white to pale yellow osseous tissue

Histopathology Intraoperative histopathological study of frozen sections from five samples measuring 1 to 4 mm showed a patternless lesion with clear cells without atypia (Fig 5), interpreted as chordoma. Later studies of fixed and paraffin-embedded samples revealed a solid lesion composed of benign foamy cells. These were positive for CD68 (macrophage phenotype and a histiocytic lineage marker) (Fig 6), and for epithelial membrane antigen (EMA), but did not react for glial fibrillary acidic protein (GFAP), AE1/AE2, S-100, or MIB-1. No cholesterol clefts or giant cells were identified. The final diagnosis was primary bone xanthoma of the clivus. Follow-up Given the benign nature of the lesion, no other aggressive surgical treatment such as radiotherapy or chemotherapy was required. A lumbar puncture was performed to study the

Fig. 5 Photomicrograph 10× magnification. Low-power view showing a solid mass of clear histiocytes with foamy cytoplasm embedded within a loose fibrous stroma. Hematoxylin and eosin stain

Fig. 6 Photomicrograph 40× magnification. High power view of foamy histiocytes with centrally located nuclei. Inset: CD68 staining of the cells

ventriculomegaly. However, as this resulted in clinical worsening, we postponed the further study of the ventriculomegaly. No regrowth of the resected tumor was observed 6 months after surgery.

Discussion Bone xanthoma is a rare entity in the context of overall bone disorders and extremely rare in the skull. The only article published to date describing a clival xanthoma reviewed the 15 reported cases of primary skull xanthoma [2]. Symptoms of skull base xanthomas have been related to the location of the bone involved: auditory symptoms in cases of temporal bone involvement (most frequently, 9/15 cases) [2, 4, 5, 7–10, 12, 16–18], ptosis in cases of frontal involvement (1 case) [13], 4/15 asymptomatic cases (2 occipital [1, 19], 1 parietal [8], 1 frontal lesion [3]). Headache was associated in most cases (including the clival xanthoma [2]). Our patient presented with headache, no cranial nerve palsies, and no visual changes. Our case differed from the earlier case in that there was no association with metabolic disorders, such as hyperlipidemia or diabetes mellitus, and that it coexisted with ventriculomegaly secondary to aqueduct stenosis (non-tumoral hydrocephalus), which may lead to confusion in the clinical presentation of this benign lesion. Lesions that are not locally aggressive, not invasive, and grow slowly over time usually indicate an indolent nature. Aggressive tumors such as metastases or chordomas most commonly present with headache, diplopia secondary to sixth cranial nerve palsy resulting from tumor invasion, multiple lower cranial nerve palsy symptoms such as facial numbness and asymmetry, dysphagia, hoarseness, and speech problems, as well as visual changes including blurring or sometimes loss of

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vision; they may also cause brainstem compression with long tract signs and ataxia [14, 15]. Given the finding of a clival lesion, the endoscopic approach is nowadays the preferred technique, whether we suspect a benign or a malignant tumor. Endoscopy permits direct surgical access and provides excellent visualization of the clivus and surrounding structures, thereby reducing the complications associated with other approaches [11]. Use of image guidance is essential to determine the exact location and boundaries of the lesion, especially in the context of a minimally invasive approach [11]. Intraosseous xanthoma is a benign tumor with no typical or pathognomonic radiological findings. Its most usual presentation is that of a well-defined lesion, occasionally expansive, with no signs of infiltration or edema of the adjacent bone. CT imaging shows an osteolytic pattern, and MRI may show a variable signal, in both T1- and T2-weighted images, depending on its composition. Contrast uptake is variable. The differential diagnosis includes such entities as histiocytosis X, Erdheim–Chester disease, giant cell tumor, chordoma, or clear cell carcinoma metastasis. Given the patient’s family history of cancer, she was understandably concerned about receiving an accurate diagnosis, with its corresponding prognosis. Bearing in mind that the initial diagnosis was made elsewhere, we aimed to avoid surgery. However, as we were unable to confirm the benign nature of the tumor (very worrying for this particular patient), we undertook minimally invasive surgery in order to provide a definitive histopathological diagnosis. Histopathological studies of fixed and paraffin-embedded samples revealed a primary bone xanthoma of the clivus. This tumor is composed mainly of foamy cells that are histiocytes in which cholesterol or neutral lipids have accumulated abnormally. Other characteristics include cholesterol clefts, Touton-like giant cells, hemosiderin deposits, inflammatory cells, and fibrosis. These findings enable the differential diagnosis with histiocytosis X, Rosai–Dorfman disease, Erdheim–Chester disease, xanthomatous meningioma, xanthogranulomatous osteomyelitis, fibrous dysplasia, aneurysmal bone cyst, simple bone cyst, and giant cell tumors. Immunohistochemical stainings are useful in identifying these conditions. Metastatic clear cell carcinoma, which cannot be differentiated through morphological examination, can also be excluded by AE1/AE2 and S-100 staining. For those lesions that involve the temporal bone, it is also important to distinguish xanthoma from cholesterol granuloma. Cholesterol clefts and giant cells are both seen in both types of lesions, but a cholesterol granuloma has no lipid-laden foamy cells, which facilitates pathological diagnosis. Keys for the differentiation of clivus lesions are usually histological study and immunohistochemical stains for a histiocyte nature (CD68, alpha-1-antichymotrypsin), which reveal the xanthic nature of the lesion. The last histopathological study was therefore a determinant factor in the final diagnosis of

the lesion, which thus obviated the need for aggressive treatment with radiotherapy [6].

Conclusion Bone xanthoma is a very rare lesion. However, faced with a well-defined osteolytic lesion with no obvious aggressive features, this entity should, in the suitable context, be included in the differential diagnosis, as its approach and treatment may not need to be as aggressive as those for malignant lesions, as was the situation in our patient. A biopsy is probably the choice diagnostic method, provided the mass is not causing other symptoms.

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Comments Oliver Bozinov, Zurich, Switzerland Gonzalez-Garcia and colleagues present a very interesting case that has been mistakenly diagnosed first as a malignant tumor and turned out to be a very rare xanthoma of the clivus coexisting with ventriculomegaly secondary to aqueduct stenosis (non-tumoral hydrocephalus). This case report is nicely described and does have an impact on neurosurgical daily life. Most colleagues would assume a malignant case as well, but then again, sometimes a biopsy might be enough to treat such a lesion (at first) or strong intraoperative frozen section can be of a big help as well. Those cases have to be frequently mentioned/published to remind every colleague of possible differential diagnosis.

Endoscopic endonasal resection of clival xanthoma: case report and literature review.

Bone xanthoma is an extremely rare and benign tumor in terms of its nature and growth over time. We describe the first case coexisting with ventriculo...
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