A fortuitous discovery of a neurofibroma in a female patient with type 1 neurofibromatosis: a case report

Abstract

Neurofibromatosis type 1 (NF1) is a neurocutaneous condition with an autosomal dominant pattern of inheritance. This congenital disease is characterized by a wide spectrum of clinical manifestations and degree of severity. This case report describes a female patient in her early 20s who presented with a complaint of lumbosciatica-like pain evolving for several months. The condition initially escaped the attention of clinicians until a lumbar computed tomography scan and spinal magnetic resonance imaging were performed. The patient was then transferred to the general surgery department, where a clinical diagnosis of NF1 was established. The clinical manifestations were specific for this disease, including café-au-lait macules, plexiform neurofibroma, and a history of neurofibromatosis in her mother. The patient underwent surgical resection of the neurofibroma, which resulted in a favorable outcome. However, 2 years later, a new mass attached to the second lumbar spinal nerve was revealed by a follow-up computed tomography scan. Long-term and close follow-up of NF1 is required because of the high risk of malignancy and recurrence in NF1 patients.

Keywords: NF1; Neurofibromatosis type 1; Von Recklinghausen disease; café-au-lait macules; plexiform neurofibroma; schwannoma.

Figure 1.

Cutaneous lesions (café-au-lait macules).

Figure 2.

Spinal cord magnetic resonance imaging highlighting lesion aspects (X).

Figure 3.

Coloscopy outcome: lesion exerting a mass effect on the rectal wall, bulging into the rectal lumen.

Figure 4.

End of the procedure: para-rectal incision and surgical equipment.

Figure 5.

Follow-up computed tomography scan showing an aspect resembling a radicular schwannoma (L1–L2).