The Mc Cune - Albright Syndrome:A Case With Giant Mucocele

Me Cune - Albright Sendromu: Dev Mukoselli Bir Vaka

AGAHAN UNLU, M. EFKAN <:;OLPAN, KAGAN TUN, ERTEKIN ARASIL

Ankara University, School of Medicine, Department of Neurosurgery, Ankara, Turkey

Received: 19.09.2001 0 Accepted: 06.09.2002

Abstract: McCune-Albright syndrome is a specificcategory of fibrous dysplasia in which the majority ofcases feature craniofacial involvement. Mucoceles

sometimes accompany this rare condition. This reportdescribes a patient with McCune-Albright syndrome whohad a giant mucocele within the dysplastic fibrous lesionin her frontal bone.

Key Words: Fibrous dysplasia, McCune-Albrightsyndrome, mucocele

INTRODUCTION

Fibrous dysplasia is a developmental anomalyof bone. The craniofacial bones are often affected.

In such cases, fibrous dysplasia may develop insideor outside the skull, resulting in cosmetic issuesand neurological complaints that include visionloss, deafness, and hemiparesis (1,2,3,4,5).Surgicaltreatment is recommended for cosmetic reasons

and to preserve or restore neurological function.

McCune-Albright syndrome represents aspecial category of fibrous dysplasia in which themajority of cases have craniofacial involvement.The characteristic features of the syndrome are

Ozet: McCune-Albright sendromu, kraniofasiyalbozuklukluklann slkhkla birlikte oldugu fibrozdisplazinin ozel bir alt grubudur. Bu nadir goriilensendrom mukosel ile ili~kili olabilir. Bu makalede,

McCune- Albright sendromunda, fibroz displazi ilebirlikte olan dev mukosel vakasl tarh~llml~hr .

Anahtar Kelimeler: Fibroz displazi, McCune-Albrightsendromu, mukosel

cafe~au-lait skin spots, early sexual development,and fibrous dysplasia (1,2,4,5). McCune-Albrightsyndrome accounts for 3% of all cases of fibrousdysplasia. It is extremely rare for a patient toexhibit all the main traits of this syndrome (1,2,4,5).We present a case of McCune-Albright syndrome inwhich a giant mucocele formed within thedysplastic fibrous tissue.

CASE REPORT

A 25-year-old woman was admitted to ourclinic with progressive cranial shape deformity andgeneralized tonic-clonic seizures of 2 years'duration. The patient had a history of early sexualdevelopment at age 9. Physical examination

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TlIrkish Nellrosurgery 13: 57-60, 2003

revealed craniofacial asymmetry and bilateralexophthalmia, as well as cafe-au-lait spots on thelegs and neck. The patient's neurologicalevaluation was normal. Cranial computerizedtomography demonstrated enlargement of thefrontal bones (Figure 1). T2-weighted magneticresonance images showed hyperintense and

Figure 1: A computerized tomography imagedemonstrates the expanded frontal bonecontaining a mucocele.

hypointense cyst formation resembling a mucocele.This lesion was located within he expanded frontalbone, and the expansion suggested fibrousdysplasia (Figure 2). The patient's hormone profilerevealed increased serum prolactin (67.31mID I ml),decreased serum total testosterone (6.37 ng I ml),and decreased serum cortisol (Ill g I ml).

The combination of early sexual development,cafe-au-lait pigmentation, endocrinologicalabnormalities, and fibrous dysplasia suggested thediagnosis of McCune-Albright syndrome.Cortisone replacement therapy was initiated andsurgery was scheduled.

The operation included a large frontalcraniotomy and removal of a mucocele. Themucocele was located in dysplastic fibrous tissuethat had invaded the inner table of the frontal bone.The frontal sinus was cranialized. Because the

patient refused the use of synthetic cranioplasty

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Ulllii: The Mc ClIlle-Albright Syndrome: A Case With Cia/It Mucocele

Figure 2: A Tl-weighted magnetic resonance image(upper left) shows the patient's frontal boneexpanded by fibrous dysplasia. A T2-weightedimage (upper right) demonstrateshypointense and hyperintense cyst formationsuggesting a mucocele within the dysplastictissue. Coronal and sagittal Tl-weightedimages are shown at the lower left and right,respecti vely.

Figure 3: Postoperative control computerizedtomography confirmed complete removal ofthe dysplastic fibrous tissue.

material, the reconstructed frontal bone was

replaced in the correct anatomical position.Histopathological examination of the diseasedbone tissue confirmed the presence of fibrousdysplasia. The patient was discharged in goodcondition on postoperative day 6.

DISCUSSION

McCune first described this condition in 1936,

and Albright followed in 1937. Consequently, thename McCune-Albright syndrome was applied (2).

This syndrome is an inherited disease of unknown

TlIrkish Neurosllrgery 13: 57-60, 2003

cause. Studies indicate that many types ofendocrinopathy are associated with thissyndrome, including hyperthyroidism, changeswith pituitary adenoma, Cushing's syndrome,hormonal shifts in autonomous adrenal

hyperplasia or hypoplasia, andhyperprolactinemia (1,2).

Recent research suggests that a mutation inexon 8 of the Gs_ gene might cause early sexualdevelopment by activating the signal-transductionpathways in early embryogenesis. In our case, it islikely that sexual precocity was the patient's firstmanifestation of McCune-Albright syndrome, butthis was overlooked by her parents and physicians.

Many reports have documented multipleserious endocrinological abnormalities and othersignificant organ-system pathologies that can belethal in patients with this syndrome (1,2,5).

Although the reports to date have describedendocrinological abnormalities of hyperfunction,our patient exhibited below-normal serum cortisoland total testosterone levels. It should be

emphasized that thorough endocrinologicalassessment of these patients is essential, especiallywhen surgery is planned. In addition tominimizing surgical risk, many of these patients'endocrinologicalproblems respond well to medicaltherapy.

Fibrous dysplasia occurs in two forms,monostotic (70%) and polyostotic (30%), and amixed type in which both types are seen inMcCune-Albright syndrome (1).Monostotic refersto single bone involvement, frequently thecraniofacial bones or ribs. This type of dysplasiagenerally ends with the onset of puberty. In somecases, the monostotic form progresses to thepolyostotic form in the third decade (1,2). Thepolyostotic form is characterized by multiple bonelesions,which are usually located on the same sideof the skeleton and mainly affect the lowerextremities and facial bones (1,2,4,5).Recurrentbone fractures and extremity deformities arepathognomonic for the polyostotic form. Althoughthe majority of fibrous dysplasia that accompaniesMcCune-Albright syndrome is polyostotic, thefrontal bone was affected in our case. Also, therewas no history of recurrent bone fractures.

Ul1lii: The Mc Cline-Albright Syndrome: A Case With Giant Mucocele

The combination of fibrous dysplasia andmucocele is considered to be extremely rare, andwas first described by Brich et al. in 1979 (1,2).Authors have suggested that such mucocelesdevelop from obstruction of a sinus ostium causedby problems such as osteoma, fibrous dysplasia,and chronic inflammation of the sinus mucosa(1,2,3).It is proposed that the mucocele slowlydistends due to mucous secretion from epithelialcells within the encapsulated mucosa (3). Thelesion is thought to gradually enlarge over timewithin the soft tissue, or it may destroy a thinsection of inner table of bone and expand into thecranium. Fibrous dysplasia is abnormal fibroustissue that fills the osseous medullar cavity, and athin shell of normal cortical bone almost alwaysremains (1,2,4,5).This thin shell of normal bonemay limit the size of any accompanying mucocele.In our case, we suggest that the mucocele mighthave extended into the dysplastic fibrous tissuebecause this tissue is more forgiving than the thinshell of normal cortical bone that was present.

As mentioned, some reports havedocumented vision loss in patients with McCune­Albright syndrome. All these cases were attributedto fibrous dysplasia, but we suggest thatneurosurgical decompression of the optic nervecould preserve vision in this situation.

This article describes the rare finding of agiant mucocele located within dysplastic fibroustissue in a patient with McCune-Albrightsyndrome. Multiple types of endocrinehyperfunction, cafe-au-lait pigmentation, andfibrous dysplasia are the major diagnostic featuresof this syndrome. All patients diagnosed withfibrous dysplasia, especially those who exhibitabnormal pigmentation or endocrine alterations,should be carefully evaluated for endocrinologicalabnormalities. Early diagnosis of this syndromewill likely prevent further endocrinological and/ orthe development of visual problems.

Correspondence: Dr. Agahan OnlUAnkara Oniversitesi TIp FakiiltesiNoro~iriirji Anabilim Dah06100 Samanpazan / Ankara, Turkey

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