Giant plexiform neurofibroma in a case of Neurofibromatosis type 1

contributed by: Dr. Zohaib Hussain
Loading

Loading

Findings
-On Examination:
The large lesion is non-tender, soft and firm on palpation. No abnormal bruit heard in auscultation. Multiple (>10) hyperpigmented patches (café-au-lait), largest measuring up to more than 20mm along with Multiple smaller nodular soft firm lesions were also noted scattered through out the thoracic and abdominal walls.

-Radiological Evaluation:
On ultrasonography, the lesion appeared solid and hetero-echoic with minimal internal vascularity as detected on colour doppler interrogation.
On magnetic resonance imaging, the lesion appears iso-intense to muscle on T1WI and hyper-intense on T2WI. On DWI, the lesion shows patchy diffusion restriction and homogeneous contrast enhancement on post contrast T1WI. The lesion is noted to be confined to the superficial tissue layer without obvious deep muscular infiltration. Multiple smaller similar nodular subcutaneous lesions are also noted scattered throughout the visualised thorax and abdomen.
Diagnosis
A provisional diagnosis of a large pedunculated plexiform neurofibroma with multiple smaller neurofibromas was made based on the clinical history, examination coupled with radiological findings, possibly neurofibromatosis type 1. (café-au-lait spots, a large plexiform and multiple smaller neurofibromas and first degree relative with NF1)
On histopathological correlation, the large overhanging lesion was revealed to be a neurofibroma.
Dr. Zohaib Hussain MD is a Consultant Radiologist from Lakhimpur with experience of 3-5 years post-graduated from Gauhati Medical College, Guwahati. Specialized in Reporting of X-RAYS , CT-SCAN , MRI , MAMMOGRAM , NUCLEAR-MEDICINE cases with expertise in Neuro-imaging , Spine-imaging , Pediatrics-imaging , Trauma , Stroke-imaging
Are you looking for Paid consultation or Second Opinion from Expert Radiologist ?
Consult Dr. Zohaib Hussain
Page Visits : 41