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Table of Contents    
Year : 2019  |  Volume : 67  |  Issue : 2  |  Page : 595-598

Meningioma associated with Gorlin–Goltz syndrome and a short review of literature

1 Department of Pathology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
2 Department of Oral and Maxillofacial Surgery, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

Date of Web Publication13-May-2019

Correspondence Address:
Dr. Susama Patra
Department of Pathology, All India Institute of Medical Sciences, Bhubaneswar, Odisha
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.257991

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How to cite this article:
Mishra P, Mahapatra M, Nayak M, Dash BP, Patra S. Meningioma associated with Gorlin–Goltz syndrome and a short review of literature. Neurol India 2019;67:595-8

How to cite this URL:
Mishra P, Mahapatra M, Nayak M, Dash BP, Patra S. Meningioma associated with Gorlin–Goltz syndrome and a short review of literature. Neurol India [serial online] 2019 [cited 2021 Jan 27];67:595-8. Available from:


Gorlin–Goltz syndrome (GGS) is a rare genetic disorder which can be inherited or occurs due to new mutations mostly involving the gene coding for protein patched homolog 1 (PTCH) protein.[1] The syndrome has varied manifestations involving different systems. The estimated prevalence varies from 1 in 50,000 to 1:1,50,000 in the general population; however, the prevalence varies according to the country where the study has been carried out.[2],[3] Meningiomas are rarely associated with this syndrome, and till date, only 19 cases have been reported world-wide. To our knowledge, no such cases have been reported from India. Herein, we report a case of Gorlin-Gotz syndrome who developed a meningioma, which is a rare association with this syndrome.

A 50-year old female patient presented with headache and head-reeling for 1 year, and pain in the right lower jaw and right side of face for 3 months. Magnetic resonance imaging (MRI) of the brain showed an intense enhancement of the lesion as well as the adjacent enhancing dural tail, which was suggestive of a meningioma [Figure 1]. Extraoral examination revealed frontal bossing and mild facial asymmetry with a depressed nasal bridge [Figure 2]a and [Figure 2]b. Intraoral examination showed multiple carious teeth and their generalized attrition/abrasion. Orthopantomogram revealed multilocular radiolucencies involving the ramus, coronoid process, and body of the right mandible, which was suggestive of cystic lesions [Figure 2]c. Three-dimensional (3D) computed tomography (CT) of the maxilla and mandible showed multilocular radiolucencies in relation to the anterior portion of the right maxilla and ramus of the right side [Figure 2]d. Chest X-ray showed kyphoscoliosis and multiple bifid ribs [Figure 3]a. Contrast-enhanced CT (CECT) scan of the chest also demonstrated multiple bilateral bifid ribs involving the second to fifth rib [Figure 3]b. Complete hemogram revealed eosinophilia.
Figure 1: Axial T2 weighted image (WI) (a) shows a broad-based, mildly hyperintense extra-axial lesion in the right basifrontal region. The lesion appears hypointense on T1WI; (b) Axial postcontrast T1WI shows an intense enhancement of the lesion as well as adjacent enhancing dural tail, (c) which was suggestive of a meningioma

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Figure 2: (a and b) Frontal bossing and mild facial asymmetry with depressed nasal bridge; (c) Orthopantomogram shows a multiloculated radiolucent lesion in the right ramus and adjacent posterior aspect of the body of the mandible; (d) Axial CECT shows an expansile lytic lesion in the ramus of right mandible, extending up to the posterior aspect of adjacent part of the body of the mandible

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Figure 3: (a) Chest X-ray showed kyphoscoliosis and multiple bifid ribs; (b) Volume-rendered image of the thorax shows bifid 2nd, 5th , 6th ribs on the right side and 2nd and 4th ribs on the left side

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The patient was referred to the neurosurgery department for her headache. A basifrontal craniotomy was done and the tumor was removed. The tumor was sent for histopathological examination. Macroscopic examination of the tumor revealed multiple fragments of grayish white tissue. Microscopically, the tumor was composed of neoplastic meningothelial cells arranged in lobules, whorls, and syncytium with numerous psammoma bodies [Figure 4]a,[Figure 4]b,[Figure 4]c, confirming a diagnosis of meningothelial meningioma, World Health Organization (WHO) grade-I. Her postoperative course was uneventful and she was discharged on the 7th postoperative day.
Figure 4: (a) Neoplastic meningothelial cells in lobules and whorls; (b) Cyst lined by ulcerated, parakeratotic squamous epithelium with well-developed basal layer; (c) Underneath the epithelium, cholesterol clefts and foreign body giant cell reaction can be seen

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After 2 months, she was admitted in the dental department for treatment of her jaw cysts. Total enucleation with chemical cauterization was done under general anesthesia. Histopathological examination showed a cyst lined by ulcerated, parakeratotic squamous epithelium with a well-developed basal layer with hyperchromatic nuclei. The epithelial lining rested on the fibrous capsule, which was thickened and contained daughter cysts. Cholesterol clefts, calcification, lymphoplasmacytic infiltration, and foreign body giant cell reaction [Figure 4]b were present. The histomorphological features favoured a diagnosis of odontogenic keratocyst.

The presence of two major criteria (multiple odontogenic keratocysts and bifid ribs) and two minor criteria (kyphoscoliosis and meningioma) led to a diagnosis of GGS. A complete family history was taken, and a physical examination and further investigations were carried out. The family history was not suggestive of any abnormality in any other member of the family. Cutaneous lesions in the form of palmar or plantar pits or nevus were not seen. The ocular examination was within the normal limits. Ultrasonography of the abdomen and pelvis showed a small uterus with atrophic ovaries without any significant abnormality. Echocardiography was normal. The patient was on close follow-up for 12 months with no recurrence.

GGS was first described by Jarisch and White in 1894.[3],[4] Dr Robert Gorlin and Dr Robert Goltz delineated the different clinical features.[5] The major and minor criteria for diagnosing this syndrome was proposed by Evans et al., in 1993),[6] which was later modified by Kimonis et al., in 2004.[7] The presence of two major and one minor or one major and three minor criteria is necessary to establish its diagnosis.[6],[7]

The major criteria include multiple (>2) basal cell carcinomas (BCCs) or one occurring under 20 years of age; the presence of histopathologically proven keratocystic odontogenic tumor (KCOT) of the jaws, palmar or plantar pits (three or more), bilamellar calcification of the falx cerebri, bifid, fused, or markedly splayed ribs; and, first-degree relative with a nevoid BCC syndrome

The minor criteria include macrocephaly (following adjustment for height); the presence of congenital malformations like a cleft lip or palate, frontal bossing, coarse face, and moderate or severe hypertelorism; other skeletal abnormalities such as Sprengel deformity, marked pectus deformity, and marked syndactyly of the digits; radiological abnormalities such as bridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion, or elongation of the vertebral bodies, defects of the hands and feet, or flame-shaped hands or feet; an ovarian fibroma; and/or a medulloblastoma

In addition to these minor features, uncommon neoplasms such as a meningioma, ameloblastoma, squamous cell carcinoma, and odontogenic myxoma are also described.[8] To our knowledge, till date in the Indian literature, 54[8],[9] cases of GGS have been described and meningioma has not been documented in any patient. In addition, scoliosis of the spine, which is rarely reported in the Indian population,[8] was also seen in our case. After an extensive literature search, only 19 cases of meningioma associated with GGS have been reported around the world [Table 1].[7],[10],[11],[12],[13],[14],[15],[16],[17],[18],[19],[20],[21],[22],[23],[24],[25],[26],[27] The primary brain tumor that is commonly associated with GGS is medulloblastoma with a frequency of approximately 20%.[28] Meningioma is reported less commonly. In a study by Kimonis et al.,[7] 5% patients were found to have radiological features of a meningioma. It is interesting to note that in the Indian literature, there is paucity of intracranial neoplasms in GGS compared to other parts of the world.[8] This may be attributed to two reasons. First, this entity is poorly recognized and hence underdiagnosed. Second, there may be a variation in the genetic and environmental factors in the indigenous population of patients.
Table 1: Reported cases of meningioma in patients with jaw cyst-bifid rib syndrome

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Recognition of GGS is important because it is a multisystem disease. A multidisciplinary approach is required because of the multiorgan involvement. Due to the predisposition of the disease to relapse, a close follow-up is required to reduce its morbidity and mortality. Radiotherapy should be avoided in these patients because of a genetic propensity in the patients to develop radiation-induced neoplasms.

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There are no conflicts of interest.

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Jarisch W. Zur Lehre von den Hautgeschwulsten. Arch Dermatol Syphilol 1894;28:162.  Back to cited text no. 4
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  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

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