NEUROCUTANEOUS MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE-1: A CASE REPORT

Posted By Harmeet kaur
NEUROCUTANEOUS MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE-1: A CASE REPORT

ABSTRACT Neurofibromatosis type-1 or Von Recklinghausen disease is a multisystem neurocutaneous disorder and the most common phakomatosis. One of the main characteristics of this disease is systemic and progressive involvement with impaired neurological functions. It is characterised by predominantly neurocutaneous features such as cafe-au-lait spots, axillary freckling, skeletal dysplasias, benign and malignant neurofibromas. We report a case of an 18 yrs old male patient who came to department of radiodiagnosis for imaging evaluation of nodular lesions on both upper limbs and lower limbs associated with sensory and motor weakness. Imaging findings revealed multiple cutaneous and subcutaneous neurofibromas involving peripheral and autonomic nerves appearing as small soft tissue skin nodules clinically. We discuss the clinical, pathological and radiological appearances of neurofibromatosis and brief review of the available literatures in the present case report. CASE REPORT An 18 yrs old male patient presented with multiple hyperpigmented macules and small nodular lesions all over his body. He also complained of pain, motor and sensory weakness in bilateral lower limbs and was referred to the department of radiology for imaging evaluation. He had developed limp in his right leg one year back. There was no history of seizures or neurological deficit. He was well oriented with normal cognitive functions. On clinical examination: multiple soft to firm cutaneous nodules were seen more so in bilateral upper and lower limbs ranging from a few millimeters to several centimeters in diameter. (fig.1) Multiple cafe-au-lait spots with diameter > 1.5 cms were also noted. (fig.2) Bilateral foot drop was seen with zero motor power in extensor hallucis longus and tibialis anterior muscles. (fig.3) Ophthalmological evaluation revealed iris lischs nodules in both eyes without clinical visual involvement. (fig 4) Optic nerves were normal with no evidence of gliomas or retinal astrocytomas. ENT examination and nerve conduction study were unremarkable. He had positive family history with presence of cafe-au-lait spots and lischs nodules in his mother. • USG of upper limbs showed multiple well marginated discrete as well as conglomerated nodular soft tissue lesions giving target appearance i.e. central hyperechogenicity with hypoechoic periphery involving the ulnar, median nerves in the wrist (fig.5,6), intercostals nerves (fig.7 A&B), posterior tibial, peroneal nerves in the legs bilaterally (fig.8,9) and also in pelvis involving sacral plexus. The involved nerves were thickened and showed fusiform enlargement. • MRI both forearms with wrist, pelvis with both lower limbs showed multiple nodular lesions along the course of median nerves, ulnar nerves (fig. 10,11) and sacral plexus (fig. 13), common peroneal nerves, tibial nerves respectively suggestive of deep nodular neurofibromas. Lesions appeared as hypointense on T1 weighted and heterogeneously hyperin

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