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CASE REPORT Table of Contents   
Year : 2002  |  Volume : 36  |  Issue : 4  |  Page : 260-261
Multiple neurofibromatosis presenting as hip pain A case report


Department of Orthopaedics, SMS Medical College, Jaipur, India

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How to cite this article:
Gupta S P, Agarwal A. Multiple neurofibromatosis presenting as hip pain A case report. Indian J Orthop 2002;36:260-1

How to cite this URL:
Gupta S P, Agarwal A. Multiple neurofibromatosis presenting as hip pain A case report. Indian J Orthop [serial online] 2002 [cited 2019 Aug 20];36:260-1. Available from: http://www.ijoonline.com/text.asp?2002/36/4/260/35948

   Introduction Top


Neurofibromatosis (Von Recklinghausen's disease) is a autosomal dominant disease. Neurofibromatosis type I, carried on chromosome 17, is the classic autosomal dominant neurocutaneous disorder which is associated with characteristic cream brown cutaneous lesions (cafe au lait spots). Neurofibromatosis type 2, carried on chromosome 22 is also an autosomal dominant disorder in which neurofibromas involve the acoustic nerves exclusively and bilaterally. The various skeletal lesions in neurofibromatosis include scoliosis, erosive defects growth disorders bowing and pseudoarthrosis of the lower leg, intraosseus cystic lesions and congenital anomalies. In view of the rarity of neurofibroma presenting as severe pain in right hip region and multiple lytic lesions in femur, a case with such features is found worth reporting.


   Case report Top


A Hindu housewife, aged 40 years, with features of general neurofibromatosis with multiple fibroma molluscum and cafe au lait spots over body reported in Orthopaedic outdoor with pain in right hip region for the past 1 months. Clinical examination of right hip region was found to be normal with no localized tenderness at hip, range of motion at hip being full and painless. There was no lymph node enlargement at hip region. Spine, knee and neurological examination were found to be normal. She had slight limp during walking (antalgic gait). Her radiographs showed multiple radiolucent lesions of various sizes with irregular outlines involving upper ends of both femora and ischiopubic rami, otherwise hip joint was normal. The bones showed decreased density. Her serum calcium and phosphorus levels were within normal limits. She was given analgesics and calcium therapy and asked to report after two months. After one month the patient reported with pain and great difficulty in walking. She was admitted for investigations and repeat radiographs of her pelvic regions and hips were taken. The bones showed slight increased bone density. The radiolucent lesions have increased in femur region especially right side. To rule out other causes of multiple osteolytic lesions the radiographs for skull and hand were obtained and were found to be normal. Suspecting involvement of sciatic nerve, MRI of right hip region was ordered. It showed lobulated mass lesion near upper end of shaft of right femur with erosion [Figure 1]. To determine the origin of lobulated mass (whether intraosseous or extraosseous) CT scan of right femur was taken. The scan showed flattening especially posteriorly with cortical breech. The anterior cortex was found involved [Figure 2].

Intraoperative findings included a grayish brown tissue infiltrating the glutei, extending down to thigh surrounding posteromedial aspect of femur near lesser trochanter. Sciatic nerve was found compressed with tumor tissue. The normal soft tissue in this region was practically replaced by neurofibromatous tissue. Although the bone was eroded but bony invasion by neurofibroma was not present and medullary canal was breached. Subtotal excision of tissue was performed. The histopathology report confirmed the nature of grayish brown tissue as benign neurofibroma. Her symptoms improved on follow up [Figure 3].


   Discussion Top


Skeletal lesions occur in 60% of neurobromatosis patients. Mostly they are spinal deformities with a typical neurofibromatosis curve involving the thoracic spine. [1]

Osteomalacia and its association with neurofibromatosis has been reported by many authors. The explanation offered is that it might represent a visceral manifestation of neurofibromatosis. [2]

Erosive defects are another type of skeletal changes occurring in this disease. Norgaard [3] described these erosions as a `pit' or `cave' in the bone. These defects are caused by neurogenic tumor in both peripheral nerves and CNS since the tumors are benign, the defect is typical erosion by pressure, not destruction by invasions. The most common site of such erosions is ribs.

Intraosseous cystic lesions is one of the most interesting anomalies and possible the most controversial skeletal abnormality in neurofibromatosis. Various explanations have been offered for this viz. neurofibromas may have developed from nerves within the bone or external neurofibromas have formed a pit or cave on the bone surface that in certain projections produce the roentgenographic appearance of a cyst or these are secondary changes unrelated to basic disease. In our case, intraoperative findings prove that these zones are pressure erosions on the surface caused by external neurofibromas.

Neurofibromatosis patients presenting hip pain is unusual. The possible explanations which might be offered include kyphoscoliotic changes pressing nerve roots, tumorous involvement of spinal cord and peripheral nerves, involvement of sciatic nerve or bone. Here the cause may be due to pressure erosion of femur and local pressure over sciatic nerve or involvement of periosteal nerve tissue of bone. The non involvement of sciatic nerve even despite such heavy tumorous growth in the region is surprising.

 
   References Top

1.Kulkarni GS. Textbook of orthopaedics and trauma. First Edition. New Delhi; Jaypee Brothers Medical Pub (P) Ltd. 1999 : 1106.  Back to cited text no. 1    
2.Hunt JC, Pugh DG. Skeletal lesions in neurofibromatosis. Radiol 1961; 76 : 1.  Back to cited text no. 2    
3.Norgaard F. Osseous changes in the Recklinghausen's neurofibromatosis. Acta Radiol 1937; 18 : 460.  Back to cited text no. 3    

Top
Correspondence Address:
S P Gupta
293, Mahaveer Nagar 1, Tonk Road, Jaipur
India
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Source of Support: None, Conflict of Interest: None


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    Figures

  [Figure 1], [Figure 2], [Figure 3]



 

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    Introduction
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    References
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