J Korean Radiol Soc.  1979 Dec;15(2):327-336. 10.3348/jkrs.1979.15.2.327.

Radiologic findings in neurofibromatosis

• Kim DY
• Jeon SC
• Lee KS
• Yeon KM
• Choo DW

• KMID: 2349383
• DOI: http://doi.org/10.3348/jkrs.1979.15.2.327

Abstract

Neurofibromatosis is an uncommon but certainly not a rare herediatary disorder, probably of neural crestorigin, involving not only neuroectoderm and mesoderm but also endoderm and characterized by cafe au lait spots and cutaneous and subcutaneous tumors, with secondary mesodermal defects responsible for protean osseous abnormalities and various manifestations in other systems. This paper is a study of confirmed 143 cases of neurofibromatosis collected for past 8 years. In this analysis, special attention was given to the selected 37cases which showed abnormal findings on radiological examinations. Overall male to female ratio was 1:1.3. The most frequent kind of abnormalities was vertebral hyphoscoliosis in 12 cases. Among the more pathognomonic but uncommon abnormalities to neurofibromatosis, we experienced each 2 cases of lambdoid defect, pseudoarthrosis and renovascular hypertension, and 1 case of sphenoid bone absence. Six representative cases are pressented with brief histories and photographs.

MeSH Terms

Cafe-au-Lait Spots
Endoderm
Female
Humans
Hypertension, Renovascular
Male
Mesoderm
Neural Plate
Neurofibromatoses*
Neurofibromatosis 1
Pseudarthrosis
Sphenoid Bone