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Neurofibromatosis, Charcot-Marie-Tooth disease, or both?
Neurofibromatosis. 1989; 2(4):238-43.N

Abstract

The simultaneous occurrence of neurofibromatosis and a peripheral neuropathy that has the clinical and electrophysiological features of Charcot-Marie-Tooth disease (HMSN I) has rarely been reported. A recent report described patients with HMSN I with hypertrophic lumbosacral nerve roots. We report a patient with compelling evidence for neurofibromatosis who also demonstrates clinical and electrophysiological features of Charcot-Marie-Tooth disease. Abdominal and pelvic CT scan revealed diffusely and symmetrically enlarged lumbosacral nerve roots. These nerve roots were biopsied, and the specimens revealed neurofibromas. Histology, electrophysiological studies, radiology, and clinical appearance of the abnormality in peripheral nerves and lumbosacral nerve roots will be emphasized in this paper. The simultaneous occurrence in our patient of neurofibromatosis and Charcot-Marie-Tooth disease suggests a possible genetic relationship between these two disorders.

Authors+Show Affiliations

Department of Neurology, Indiana University School of Medicine, Indianapolis.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2517818

Citation

Roos, K L., et al. "Neurofibromatosis, Charcot-Marie-Tooth Disease, or Both?" Neurofibromatosis, vol. 2, no. 4, 1989, pp. 238-43.
Roos KL, Pascuzzi RM, Dunn DW. Neurofibromatosis, Charcot-Marie-Tooth disease, or both? Neurofibromatosis. 1989;2(4):238-43.
Roos, K. L., Pascuzzi, R. M., & Dunn, D. W. (1989). Neurofibromatosis, Charcot-Marie-Tooth disease, or both? Neurofibromatosis, 2(4), 238-43.
Roos KL, Pascuzzi RM, Dunn DW. Neurofibromatosis, Charcot-Marie-Tooth Disease, or Both. Neurofibromatosis. 1989;2(4):238-43. PubMed PMID: 2517818.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neurofibromatosis, Charcot-Marie-Tooth disease, or both? AU - Roos,K L, AU - Pascuzzi,R M, AU - Dunn,D W, PY - 1989/1/1/pubmed PY - 1989/1/1/medline PY - 1989/1/1/entrez SP - 238 EP - 43 JF - Neurofibromatosis JO - Neurofibromatosis VL - 2 IS - 4 N2 - The simultaneous occurrence of neurofibromatosis and a peripheral neuropathy that has the clinical and electrophysiological features of Charcot-Marie-Tooth disease (HMSN I) has rarely been reported. A recent report described patients with HMSN I with hypertrophic lumbosacral nerve roots. We report a patient with compelling evidence for neurofibromatosis who also demonstrates clinical and electrophysiological features of Charcot-Marie-Tooth disease. Abdominal and pelvic CT scan revealed diffusely and symmetrically enlarged lumbosacral nerve roots. These nerve roots were biopsied, and the specimens revealed neurofibromas. Histology, electrophysiological studies, radiology, and clinical appearance of the abnormality in peripheral nerves and lumbosacral nerve roots will be emphasized in this paper. The simultaneous occurrence in our patient of neurofibromatosis and Charcot-Marie-Tooth disease suggests a possible genetic relationship between these two disorders. SN - 1010-5662 UR - https://www.unboundmedicine.com/medline/citation/2517818/Neurofibromatosis_Charcot_Marie_Tooth_disease_or_both L2 - http://www.diseaseinfosearch.org/result/5171 DB - PRIME DP - Unbound Medicine ER -