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Neurofibromatosis Type I Presenting as Elongation of Neck of Femur - An Unusual Presentation

Asian Journal of Pharmaceutical and Health Sciences,2012,2,4,451-453.
Published:November 2012
Type: Case Report
Authors:
Author(s) affiliations:

Atul Tayade1, Surekha Tayade2*, Neeraj Prajapati3, Sudheer Kunkunuru4, Shruti Aaglawe5

1Professor and Head, Department of Radiodiagnosis, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India. 

2Professor, Obstetrics and Gynecology, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India. 

3Consultant Radiologist, Mathura, Uttar Pradesh, India.

4Consultant Radiologist, KIMS, Hyderabad, Telangana, India. 

5Resident, Department of Radiodiagnosis, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, Maharashtra, India.

Abstract:

A16 years old male presented with pain in right hip and swelling in right thigh since one year. The radiograph of pelvis with both hips revealed elongation of neck of right femur with overlying soft tissue swelling shadow. MRI brain revealed hyper intense foci on T2W images in left parietal lobe. After evaluation the Radiological diagnosis of Neurofibroma of right thigh with elongation of neck of right femur, with hamartoma in left parietal lobe was kept. On basis of clinical and radiological features the final diagnosis of Neurofibromatosis I (NF I) was made. Neurofibromatosis type I is a neuro cutaneous syndrome which present as multi system manifestations. Focal lengthening of bone is an unusual manifestation of neurofibromatosis type I, so whenever there is focal lengthening of bone associated with an overlying mass lesion one should suspect NF I and should look for its cutaneous manifestations.

Radiograph of pelvis with both hips showing elongation of neck of right femur with overlying soft tissue swelling shadow