Learning objectives
Neurofibromatosis type 1 (NF-1) is the most common type of the phakomatoses,
a group of congenital neurocutaneous disorders.
It is due to abnormalities related to mesodermal dysplasia and is characterized by the formation of neurofibromas.
It is known to affect multiple organ systems,
with skeletal abnormalities seen in up to 50% of patients.
Objectives of current study are,
To list the musculoskeletal manifestations in Neurofibromatosis type – 1 (NF-1).
Discuss the roles of different imaging techniques in the diagnosis of this disease and describe their...
Background
Neurofibromatosis
Diagnostic criteria NF-1 is diagnosed when two or more of the following are present:
1. Six or more café-au-lait spots (Fig.
2)
- 5 mm in diameter in prepubertal individuals
- 15 mm in diameter in postpubertal individuals
2.
≥2 Neurofibromas of any type or one plexiform neurofibroma (Fig.
3)
3.
Two or more iris hamartomas (Lisch nodules) (Fig.
4).
4.
Intertriginous freckling (Crowe sign) in axilla or inguinal (Fig.
2).
5.
Optic nerve glioma (Fig.
5).
6.
First degree relative with NF-1 (Fig....
Findings and procedure details
Skeletal manifestations in NF-1 occurs in around 25-40%. It can involve any part of the body.
These manifestations can be identified on Plain radiograph.
Spinal deformities
Spinal deformities occur in up to 50% of patients with NF-1.
One of the most common osseous complication of NF-1 is Scoliosis,
affecting 21% of patients.
Dwarfism is caused by scoliosis.
It can be dystrophic (Fig.
8) or nondystrophic (Fig.
7).
Nondystrophic scoliosis is same as idiopathic scoliosis,
but with an early onset.
It may progress to dystrophic especially...
Conclusion
Neurofibromatosis is one of the most common genetic disorders and can involve any part of the body.
Many of the skeletal manifestations of NF-1 are caused by underlying mesodermal dysplasia and nearly all parts of the skeleton and its surrounding soft tissues can be involved.
Adequate understanding of imaging appearances of musculoskeletal manifestations in different locations is highly important.
Radiologists should be familiar with its imaging manifestations.
It allows us to contribute to the diagnosis,
regular monitoring in the known cases and rule out family...
Personal information
Dr.I.Gurubharath MD.,Ph.D
Author
Professor and HOD
Department of Radiodiagnosis ,
Shri Sathya Sai Medical College and Research Institute,Chennai,Tamilnadu
Email Id:
[email protected]
Dr.
Pooja Varwatte
Co-author
Postgraduate in Radiodiagnosis
Shri Sathya Sai Medical College and Research Institute,Chennai,Tamilnadu
Email Id :
[email protected]
References
Patel NB,
Stacy GS.
Musculoskeletal manifestations of neurofibromatosis type 1.
American Journal of Roentgenology.
2012 Jul;199(1):W99-106.
Sureka B,
Thukral BB,
Mittal MK,
Mittal A,
Sinha M.
Imaging spectrum of neurofibromatosis.
Journal of Mahatma Gandhi Institute of Medical Sciences.
2015 Jul 1;20(2):137.
Kakarla S.
Skull radiographs as a guide for diagnosing systemic disorders (Pictorial Atlas).
J Med Sci Res.
2016; 4(1):41-50
Pannier S.
Congenital pseudarthrosis of the tibia.
Orthopaedics & Traumatology: Surgery & Research.
2011 Nov 30;97(7):750-61.
Khan AN.
Neurofibromatosis Type 1 Imaging.
Feldman DS,
Jordan...