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Table of Contents    
Year : 2018  |  Volume : 66  |  Issue : 2  |  Page : 566-568

An unusual presentation of intracranial meningioma in Hajdu–Cheney syndrome

Department of Neurosurgery, Beijing TianTan Hospital, Capital Medical University, Beijing, China

Date of Web Publication15-Mar-2018

Correspondence Address:
Dr. Zhen Wu
Department of Neurosurgery, Beijing TianTan Hospital, Capital Medical University, Tiantan Xili 6, Chongwen District, Beijing - 100050
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.227310

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How to cite this article:
Liu W, Tang J, Wu Z, Zhang J. An unusual presentation of intracranial meningioma in Hajdu–Cheney syndrome. Neurol India 2018;66:566-8

How to cite this URL:
Liu W, Tang J, Wu Z, Zhang J. An unusual presentation of intracranial meningioma in Hajdu–Cheney syndrome. Neurol India [serial online] 2018 [cited 2019 Dec 11];66:566-8. Available from:


Hajdu–Cheney syndrome (HCS), also referred to as acro-osteolysis syndrome, is a rare autosomal dominant syndrome characterized by acro-osteolysis, generalized osteoporosis, skull deformations, and connective tissue involvement. We report a patient with a sporadic form of HCS, a condition that was associated with a tuberculum sellae meningioma.

A 42-year old woman suffered from intermittent headaches for 1.5 years and progressive impaired vision for 1 year. At the age of 30 years, she was diagnosed with HCS due to an extensive history of osteopathic abnormalities, including deciduous tooth eruption, short thick terminal phalanges, aches, and difficulty in walking. On physical examination, a short stature, the distinctive facial features of the syndrome, osteolysis and osteoporosis of the skull, and and excessive bone resorption from long bones of all four limbs were noted [Figure 1]. On the preoperative magnetic resonance imaging with contrast, a tuberculum sellae meningioma was detected [Figure 2]. The patient underwent tumor resection via a unilateral subfrontal approach and had an uneventful postoperative course. Due to tight adhesion with anterior cerebral artery and the optic chiasm, the tumor was subtotally removed, and a small residual portion remained in the suprasellar region. The histological diagnosis was meningothelial meningioma (WHO grade I). She showed improvement in her visual acuity and there was no further growth of the residual meningioma at a follow-up of 6 years.
Figure 1: Photograph showing clinical appearance of the patient and radiographic presentation. The features included a small face, thick and coarse hair with a low hair line, thick eyebrows, wide-set eyes, and a small mandible (a), Clubbed phalanges (b and c), a large separation in the sagittal suture (d, e and f, white arrow), and a wide lambdoid suture with multiple Wormian bones (d and e, black arrow), dentinogenesis imperfecta (e, dotted arrow), and thin skull bone (g) were seen. Radiographs of both legs and feet (h and j) and hands (i) showed acro-osteolysis of the terminal phalanges (i and j, white arrow) and osteoporosis of bilateral tibia and fibula (h, black arrow)

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Figure 2: The preoperative T1-weighted sagittal and coronal MRI scans (a and b) revealed a well-defined suprasellar mass with an intensely homogeneous contrast enhancement compressing the optic chiasm and ventricle. The follow-up magnetic resonance imaging (MRI) scan performed accordingly 6 years after the craniotomy showing a small residual portion in the suprasellar region (c and d, white arrow). The histopathological photomicrograph (e, original magnification, ×200; hematoxylin eosin stain) of the tumor specimen demonstrated the meningothelial meningioma

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HCS is a rare disorder. The association of neoplastic disease with HCS is even more unusual. Several neurological entities, including basilar invagination,[1] hydrocephalus,[1] arachnoid cysts causing cord compression,[2] Chiari I malformation, syringomyelia,[1] trigeminal neuralgia,[3] growth hormone deficiency and peripheral motor neuropathy,[4] dural ectasia,[5] and optic nerve sheath meningoceles [6] have been reported in association with HCS. It is now unclear whether the occurrence of the meningioma was causal or incidental in our case. Avela et al.,[5] reported an HCS patient with severe scoliosis and exceptionally massive dural ectasia, which further strengthens the hypothesis of HCS being a connective tissue disorder. Meningiomas are a diverse set of tumors arising from the meninges. In addition, there have been several reports associating polycystic kidneys with HCS, suggesting a possibility of a hyperproliferative component to the syndrome. Page et al.,[7] presented a case of HCS, who was diagnosed with a squamous cell carcinoma of the anus. They suggested that there may be a hyperproliferative association with polycystic kidneys, which may or may not be associated with the development of a carcinoma. In addition, the focal osteolysis can be accompanied by neovascularization, inflammation, and fibrosis. Our reported patient had an abnormal sella turcica, with a depressed and flattened tuberculum sella. Hence, we speculate that HCS may be associated with a skull base meningioma due to the focal hyperproliferative dural changes occurring secondary to a defect in collagen and bone formation.

Declaration of patient consent

The authors certify that they have obtained the appropriate patient consent forms. In the form the patient has given her consent for her images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Adès LC, Morris LL, Haan EA. Hydrocephalus in Hajdu-Cheney syndrome. J Med Genet 1993;30:175.  Back to cited text no. 1
Hoey H, Hinde F, Grant DB. Hajdu-Cheney syndrome associated with intrauterine fractures and arachnoid cysts. J R Soc Med 1983;76:521-3.  Back to cited text no. 2
Niijima KH, Kondo A, Ishikawa J, Kim C, Itoh H. Familial osteodysplasia associated with trigeminal neuralgia: Case report. Neurosurgery 1984;15:562-5.  Back to cited text no. 3
Siklar Z, Tanyer G, Dallar Y, Aksoy FG. Hajdu-Cheney syndrome with growth hormone deficiency and neuropathy. J Pediatr Endocrinol Metab 2000;13:951-4.  Back to cited text no. 4
Avela K, Valanne L, Helenius I, Mäkitie O. Hajdu-Cheney syndrome with severe dural ectasia. Am J Med Genet Part A 2011;155:595-8.  Back to cited text no. 5
Golnik KC, Kersten RC. Optic nerve head swelling in the Hadju-Cheney syndrome. J Neuroophthalmol 1998;18:60-5.  Back to cited text no. 6
Page BR, McDonald T, Gagnon P, Lu K, Thomas CR. A unique case of Hajdu-Cheney syndrome and squamous cell carcinoma of the anus. Colorectal Dis 2009;11:535-6.  Back to cited text no. 7


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