KEM - DEPARTMENTS
Home College Hospital Alumni Contact Departments Feedback
KEM LOGO


Radiology

Case of the Month

Case No. : 64
Month : April
Year : 2004
Contributor : Dr. Amol Ingule

Other Cases

Discussion


CLINICAL PROFILE :


A 42-year-old man, working in chemical company with exposure to hydrocarbons presented with history of diminution of vision in the left eye since one year. There was progressive swelling of the left eye with proptosis since three months.

Examination :
There was a nonpulsatile, left orbital mass with proptosis and redness. The pupil and cornea were not properly defined, No active watering was noted. Multiple, small subcutaneous nodules of varying sizes, soft to firm in consistency were seen on the chest, neck and back.

Fig. 1
Fig. 2
Fig. 1
Fig. 2
Fig. 3
Fig. 3



RADIOLOGICAL FINDINGS:

A plain and contrast enhanced CT scan of the orbit showed a hypodense mass lesion occupying the whole of the left orbit. There was scalloping of the lateral and medial walls of the orbit. No calcification or fat density was noted in the mass. The left optic foramnen was enlarged. These findings were thought to represent a slow growing, long standing sarcomatous lesion in the left orbit or melanoma of the left eye..

Fig. 4
Fig. 5
Fig.4
Fig. 5


An MR scan showed the orbital tumors to be hypointense on T1W and isointense on T2W images. The mass was seen to engulf the optic nerve and eyeball There were multiple intracranial lesions involving the midbrain and cerebellum. The impression was a neurofibromatosis syndrome with sarcomatous change.

Fig. 6
Fig. 7
Fig. 6
Fig. 7
Fig. 8
Fig. 9
Fig. 8
Fig. 9
Fig. 10
Fig. 11
Fig. 10
Fig. 11


The chest radiography showed canon ball metastasis.

Fig. 12
Fig.12


CT scans of the chest and abdomen showed nodular, heterogeneously enhancing lesions between 0.5 cm and 1.5 cm scattered through out the lung fields. Osteolytic lesion were noted in the body of the left scapula and pedicle of the mid dorsal vertebre with extradural extension into the neural canal.

The CT of the abdomen showed hepatomegaly with multiple heterogeneously enhancing nodules scattered through out the liver. These nodules were 1cm- 5cm in size.. Obstructive hydronephrosis was noted on the left side due to compression by retro peritoneal lymphadenopathy.Three to four cm nodular masses seen involving both adrenals.

Fig. 13
Fig. 13
Fig. 14
Fig. 14


These radiological changes were diagnosed as being metastases from a neurofibrosarcoma.

DISCUSSION:

Background: Neurofibromatosis is an autosomal dominant disorder that affects the bone, the nervous system, soft tissue and the skin. At least eight different clinical phenotypes of neurofibromatosis have been identified and are linked to at least two genetic disorders. Clinical manifestations increase over time. Neurologic problems and malignancy may supervene.

Pathophysiology: Neurofibromatosis is a neurocutaneous condition that can involve almost any organ system.. Two major subtypes exist: neurofibromatosis 1 (NF-1), which is the most common subtype and is referred to as peripheral NF, and neurofibromatosis 2 (NF-2), which is referred to as central NF. A third variant is known as segmental NF; this term is used to describe disease limited to a single body region.

Frequency:
- Internationally : Worldwide, NF-1 occurs in approximately 1 of 2500-3300 live births, regardless of race, sex, or ethnic background. The incidence of NF-2 is 1 case per 50,000-120,000 populations.

Mortality/Morbidity: The mortality rate is higher than that of the healthy population because of the increased potential for malignant transformation of diseased tissues and the development of neurofibrosarcoma. Patients with NF-1 have an estimated 3-15% additional risk of malignant disease in their lifetime.

Race: All racial groups are affected equally.

Sex: Women and men are affected equally by neurofibromatosis

Clinical presentations :
 Causes:

Home | College | Hospital | Alumni | Contact | Departments | Search | Radiology