Neurofibromatous sensory neuropathy of the thigh in a 7-year-old boy

Abstract

Neuropathy is considered to be an unusual complication of neurofibromatosis 1 (NF1). Neurofibromatous neuropathy is extremely rare in the setting of paediatric age group, pure sensory mononeuropathy and NF1. The following is a description of a 7-year-old boy who presented with complains of discomfort and parasthesia on the anterior aspect of his left thigh which is an unusual mode of presentation and site of involvement. Clinical examination and imaging revealed an isolated sensory neuropathy of the left anterior femoral cutaneous nerve of the thigh secondary to plexiform neurofibromatosis involving the L1-L4 nerve roots and the anterior femoral cutaneous nerve of thigh. The main abnormality in this patient was segmental hypertrophy of the left lower limb and dilatation of left lumbar neural foramens. Subtotal excision of the neurofibromas of the anterior femoral cutaneous nerve was performed and the patient was asymptomatic at the end of 27 months (2.25 years) of followup. Although the result of treatment in this case was good, long-term followup is necessary in view of greater risk of malignant transformation and development of spinal deformity and overall long-term poor prognosis in this particular patient subgroup of NF1.