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ARTICLES
Year : 1980  |  Volume : 28  |  Issue : 1  |  Page : 23-26

Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma


Department of Ophthalmology, R.N.T. Medical College, Udaipur, India

Correspondence Address:
R L Agarwal
R.N.T. Medical College, Udaipur-313001
India
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Source of Support: None, Conflict of Interest: None


PMID: 6782020

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How to cite this article:
Agarwal R L, Agarwal RK, Sharma N C, Nagar C K. Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma. Indian J Ophthalmol 1980;28:23-6

How to cite this URL:
Agarwal R L, Agarwal RK, Sharma N C, Nagar C K. Empty sella syndrome, pulsating exophthalmos, and calvarial bone defects in a case of neurofibroma. Indian J Ophthalmol [serial online] 1980 [cited 2020 Oct 21];28:23-6. Available from: https://www.ijo.in/text.asp?1980/28/1/23/31042

A very rare case of Empty sella syndrome with pulsating exophthalmos and calvarial bone defect was discovered during search for bony involvement of skull in a case of neurofibromatosis.

Neurofibromatosis is a hereditary disease in which the basic abnormality consists of a maldevelopment of neuroectodermal tissue often accompanied by evidence of mesodermal dysplasia. Patients with neurofibromatosis frequently present abnormalities of skin, soft tissue, nervous system and bones.


  Case report Top


A 12 years Hindu male child was admitted in eye ward, General Hospital, Udaipur on 15.5.79 with the complaints of gradually incre­asing hairy, painless swelling of left upper lid for last eight years, which rapidly increased in size in last 2½ years. So much so that patient was unable to see straight without lifting the upper lid. Swelling first noticed at temporal side of upper lid, later ivolved the adjacent temple and lower lid [Figure - 1].

Patient was fairly built and nourished having 7 cafe-aulait spots, varying from pin­head to 25 paise coin size, present all over the body. A thick skinned, hairy pigmentary mole was also present in the mid line between the two scapulae of 3½" X 12½" in size [Figure - 2]. Other systems were normal.

Local Examination - Left eye, showed pulsating exophthalmos, synchronus with carotid artery pulsation and disappeared after compression of both internal carotids.

Upper lid showed a swelling of 3"x2"xl" size, extending from orbital margin, covering the adjacent zygomatic region and hanging due to its own weight. Another swelling of 1"xl" in size was present behind it. Both the swellings were firm and elastic with pigmented hairy skin, which was free but adherent at places. No bruit was heard. Left lateral orbital margin was thick and 1.5 cm anteriorly than right lateral orbital margin.

There was swelling of 1"xl" size on lateral half of lower lid, which was firm, and freely mobile. No bruit was heard.

Palpabral fissure was slit like and to see the eye ball the upper lid had to be retracted.

Palpabral conjunctiva was congested and hypertrophied. The left eye showed myopia of 4.5 D. sph. and subcapsular lens opacities. The right eye was normal.

Investigations-Nothing abnormal was detected in urine, blood and CSF. X-ray skull P.A, lateral, Townes view, coned down view of sella tursica, views for optic foramina and and Stenver's view showed widening and enlargement of left orbit with thickening and hyperostosis of the lateral orbital wall along with part of superior and inferior orbital margin, with thining of medial orbital margin. Soft tissue mass was seen in the left orbit with two biconvex dense opacities, corresponding with swelling of left upper and lower eye lids.

There was widening of sella turcica in both anteroposterior and vertical diameter, with no evidence of raised intracranial tension.

Measurement of pitutary fossa Normal, Patient (Oo n 1963)[6]

Anterior to posterior edge 6-8mm 20mm

Depth from centre 8-10mm 12mm

There was no erosion of anterior and posterior clinoid processes. In the Towne's view there was well defined area of diminished bone density in the left side, possibly in the squamous part of left temporal bone, "a calva­rian bone defect". Left optic foramen was obliterated by soft tissue mass. Internal auditory canal was normal.

Pneumoencephalography (25 cc sterile air injected) showed enlarged pitutary fossa with presence, of air in it. Air is also seen in tempo­ral. occipital and suprasellar region.


  Discussion Top


The term empty sella syndrome was descri­bed as a specific gross anatomical variation where an incomplete diaphragm sellae encom­passed a large opening above the flattened hypophysis which lined the sella floor and incompletely filled the sellar cavity, hence the impression of empty sella, which may be (1) idiopathic or (2) Secondary[8].

In idiopathic type the incomplete diaphra­gm sella apparently allows the arachnoid to herniate through the diaphragmatic opening.

This pouch may enlarge because of hydrost­atic pressure of CSF and compress the pituitary tissue against the sella and the floor of the sella becomes reatively demineralized. The empty sella syndrome is a distinct anatomical radiographic entity characterised by remodel­ling and non-tumorous enlargement of the sella due to incompleteness of diphragma sella, where the CSF pressure may be raised.

The secondary type occurs following surgery, irradiation of an intraseller tumour which may cause visual impairment.

This case of idiopathic type was diagnosed on the basis of (1) Skiagram skull showing ballooned pituitary fossa with no evidence of increased intra cranial tension, (2) Pneumoenc­ephalography revealed empty sellar space filled with air, (3) No clinical evidence of pituitary or thyroid involvement, (4) No history of operation or irradiation.

Many cases previously reported by Stephen et al.[7], were discovered casually during the search for conditions unrelated to pituitary and same happened with this present case. The literature shows only 33 cases and in 4 cases only pituitary was involved. It is important to bear this entity in mind to avoid suspicion for pituitary tumour.

A similar case was reported by us[1] earlier too.

Isolated lid tumours are insidious, seen in children who have similar lesions of other ocular tissue, involving the temporal portion of upper lid first with dark and hairy skin. Destruction of orbital bone is frequently seen. The occurrence of calvarial bone defects with neurofibromatosis appear to be a relatively uncommon finding.

Hunt and Pugh[4] noted the presence of small defects of calvaria without associated neurofibroma in 3 patients. Jaffe[5] noticed the occurrence of calvarian bone defect involving the lambdoid suture, associated with poor or absent pneumatisation of corresponding mastoid in this disease in four patients There are conflicting views in literature regarding etiology of central cyst like bone lesion in neurofibromatosis, in absence of contaguous periosteal and soft tissue neurofibromata. Since the local surgical exploration of bone was not performed, the precise etiology of calvarian bone defect in the present patient was not ascertained. In some cases they appear to be due to local lytic lesion of bone, resulting from neurofibromatous tissue proliferation within marrow cavity. But many however, consider this to be of rare occurrences. It seems likely that in several cases the bone defect represent evidence of mesodermal dysplasia in neurofibroma. This possibility was considersed in our patient, in view of obvious local soft tissue neurofibromata at the site of bone defects.

Posterior orbital encephalocele may be result of neurofibromatosis. Here occular pulsation not associated with bruit is freque­ntly found. Brewer and Kierland[3] descrided congenital unilateral exophthalmos. In three of six cases, there was occular pulsation and sphenoidal ridge was elevated in four cases. Globe pulsation is not expansile and synchro­nous with radial pulse and does not cause any distress to patient. The pulsation arise because of deformity in bone orbit. Such deformity may be present as congenital or they may arise as a result of erosion by tumour particu­larly in case of neurofibroma. In our case there was hyperosteosis of left lateral orbital margin, probably due to neurofibromatosis.

In literature neurofibromatosis has been reported separately in association with empty sella[1], pulsating exopothalmos[2] calvarian bone defect[5] but in present case all abnormality mentioned were seen together.


  Summary Top


A very rare case report of 12 years child who presented a large neurofibroma of both lids of left eye with pulsating exophthalmos. The X-ray revealed a large sella and calvarian bone defect. Pneumoencephalography confir­med the presence of empty sella. The patient did not show any pituitary and thyroid dysfunction.

 
  References Top

1.
Agarwal, R.L., Bhargava, S., A.K. Kothari, Bedi, H.K. and Shrimali, R.L., 1977, Ind. Jour. Ophthalmol. 24, IV, 38.  Back to cited text no. 1
    
2.
Andre, J. and Robart, R., 1955, Arch. Ophthalmol. 53:2.  Back to cited text no. 2
    
3.
Brewer, A.J. and Kierland, R.R., 1955, Arch. Ophthalmol. 53:2.  Back to cited text no. 3
    
4.
Hunt, J.C. and Pugh, D.G., 1961, Radiology, 86:148.  Back to cited text no. 4
    
5.
Jaffe, N., 1965, Brit. Jour. Radiol., 38:23.  Back to cited text no. 5
    
6.
Don, C.L., 1963, Brit. Jour. Radiol., 36:294.  Back to cited text no. 6
    
7.
Stephen, R.H., Raymand, R., Colon, B.H., Collen, S.M., 1972. The medical Clinic of North America. 56:897.  Back to cited text no. 7
    
8.
Walsh F.B., 1952, Clinical neurophthalmology. IIIrd Edition, Vol. 3, page 1942-1955, 2098-2099. Published by Williams and Wilkins Company.  Back to cited text no. 8
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]



 

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