A Patient With Features Of Both Neurofibromatosis I And Neurofibromatosis Ii On Mr Imaging

Shagufta Wahab,Rizwan Ahmad Khan, Basmah Abdur Rashid, Nani Lampung

IMAGEN DIAGNOSTICA(2018)

Cited 23|Views2
No score
Abstract
Neurofibromatosis (NF) type II is a neurocutaneous disease with an autosomal dominant pattern of inheritance with its gene locus on chromosome 22q12 with bilateral acoustic schwannoma being the hallmark of this disease. NF-II is considered central neurofibromatosis while NF-I is the peripheral neurofibromatosis. This case report presents a case of a 15 year old female who came with complaint of bilateral tinnitus, hearing loss, low grade fever and weakness in bilateral lower limbs, which on imaging work up showed bilateral acoustic schwannoma, meningioma and small cord ependymoma giving the classical features of neurofibromatosis II along with unique features of cafe-au-lait spots, cutaneous neurofibromas, plexiform neurofibromas, and focus of altered signal intensity in white matter tracts of left frontal lobe which are unique to NF-I. To our knowledge no such previous case report with overlapping features of both NF-I and NF-II has been described before.
More
Translated text
Key words
Neurofibromatosis I, Neurofibromatosis II, Magnetic resonance imaging (MRI)
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined