Charcot-Marie-Tooth syndrome and neurofibromatosis type 1 with multiple neurofibromas of the entire spinal nerve roots

Abstract

The coexistence of polyneuropathy which has the definite clinical and electromyographical findings consistent with Charcot-Marie-Tooth (CMT) syndrome and neurofibromatosis type 1 (NF1) has infrequently been reported. We describe a patient with both CMT and NF1, who had multiple neurofibromas involving the entire spinal neural axis. In addition, he had multiple neurofibromas distributed within the ileopsoas and gluteus muscles and subcutaneous tissues. These lesions were detected readily by MRI and the patient underwent successful surgical resection of the largest tumours compressing bilateral C2 nerve roots. To our knowledge, this is the first reported case of CMT syndrome coexisting with NF1 in which multiple neurofibromas involved the entire spinal nerve roots. We discuss the diagnostic and therapeutic challenges, emphasising the role of MRI and electrophysiology in such cases and provide a literature review.

Severe Phenotype in Patients with Large Deletions of NF1

“…Co-occurrence of NF1 and other genetic diseases within the same family was noticed in three cases: one 15-year-old patient had concomitant familial polycystic kidney (this condition was already described and genetically confirmed in [45]); another patient inherited Charcot-Marie-Tooth disease type 1A from her mother, a condition that was already suggested or observed in the past [46][47][48][49]; also, one patient had a daughter diagnosed with Costello syndrome but no NF1.…”