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Diagnosis
Peripheral Nerve and Plexus
Plexus and Peripheral Nerve Lesions
Hypertrophic Neuropathy
Hypertrophic Neuropathy
Kevin R. Moore, MD; Jeffrey S. Ross, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Hereditary motor-sensory neuropathy (HMSN), hypertrophic neuropathy (HN), hereditary sensory neuropathy (HSN), hereditary motor neuropathy (HMN), hereditary sensory and autonomic neuropathy (HSAN), Charcot-Marie-Tooth (CMT) syndrome

              • Definitions

                • Clinically and genetically heterogeneous group of inherited disorders characterized by focal or diffuse peripheral nerve enlargement
                • Subdivided into 3 main categories based on predominant involvement of motor &/or sensory nerves
                  • Both motor and sensory nerves affected → HMSN
                    • HMSN I (CMT syndrome type I, CMT 1)
                    • HMSN II (neuronal-type peroneal muscular atrophy, CMT 2)
                    • HMSN III [Dejerine-Sottas disease (DSD), HN of infancy, congenital hypomyelinating neuropathy]
                  • Motor nerve fibers primarily → distal HMN, spinal CMT, distal spinal muscular atrophy
                  • Mainly peripheral sensory ± autonomic nerves → HSN or HSAN
                  • Hereditary neuropathy with liability to pressure palsies (HNPP)
                    • Patients develop neuropathy following trivial or unrecognized nerve injury at entrapment points

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Nonvascular Interventions

                      • Other Modality Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                • Gross Pathologic & Surgical Features

                                  • Microscopic Features

                                    CLINICAL ISSUES

                                    • Presentation

                                      • Demographics

                                        • Natural History & Prognosis

                                          • Treatment

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              • Image Interpretation Pearls

                                                Selected References

                                                1. Attarian S et al: Hereditary neuropathy with liability to pressure palsies. J Neurol. ePub, 2019
                                                2. Fridman V et al: Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 92(4):e359-70, 2019
                                                3. Pipis M et al: Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 15(11):644-56, 2019
                                                4. Schwartzlow C et al: Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep. 19(8):52, 2019
                                                5. Tracy JA et al: Onion-bulb patterns predict acquired or inherited demyelinating polyneuropathy. Muscle Nerve. 59(6):665-70, 2019
                                                6. Goedee SH et al: Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies. Clin Neurophysiol. 126(7):1413-20, 2015
                                                7. Pitarokoili K et al: Nerve ultrasound in a case of multifocal motor neuropathy without conduction block. Muscle Nerve. 52(2):294-9, 2015
                                                8. Berciano J et al: CMT1A duplication: refining the minimal adult phenotype. J Peripher Nerv Syst. 13(4):310-2, 2008
                                                9. Chung KW et al: Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscul Disord. 18(8):610-8, 2008
                                                10. Gallardo E et al: Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. J Neurol. 255(7):986-92, 2008
                                                11. Somasundaram S et al: Hereditary spastic paraplegia with a thin corpus callosum. Pediatr Radiol. 37(5):503-5, 2007
                                                12. Berciano J et al: Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. J Neurol Neurosurg Psychiatry. 77(10):1169-76, 2006
                                                13. Chung KW et al: Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 129(Pt 8):2103-18, 2006
                                                14. Gallardo E et al: Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain. 129(Pt 2):426-37, 2006
                                                15. Ellegala DB et al: Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. J Neurosurg. 102(2):242-5, 2005
                                                16. Ertl-Wagner BB et al: [Hereditary motor and sensory neuropathy (HMSN) with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions.] Radiologe. 45(7):593-6, 2005
                                                17. Isoardo G et al: X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease. Neurology. 65(10):1672-3, 2005
                                                18. Kassubek J et al: Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease. J Clin Neurosci. 12(5):588-9, 2005
                                                19. Aho TR et al: Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging. AJNR Am J Neuroradiol. 25(3):494-7, 2004
                                                20. Kretzer RM et al: Hypertrophic neuropathy of the cauda equina: case report. Neurosurgery. 54(2):515-8; discussion 518-9, 2004
                                                21. Liao JP et al: Nerve root hypertrophy in CMT type 1A. Neurology. 62(5):783, 2004
                                                22. Auer-Grumbach M et al: Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol. 60(3):329-34, 2003
                                                23. Graham D et al: Greenfield's Neuropathology. 7th ed. Hodder Arnold. 628-32; 2002
                                                24. Moore KR et al: The value of MR neurography for evaluating extraspinal neuropathic leg pain: a pictorial essay. AJNR Am J Neuroradiol. 22(4):786-94, 2001
                                                25. Cellerini M et al: MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy. AJNR Am J Neuroradiol. 21(10):1793-8, 2000
                                                26. Keller MP et al: Inherited peripheral neuropathy. Semin Neurol. 19(4):353-62, 1999
                                                27. Hahn M et al: Hypertrophied cauda equina presenting as intradural mass: case report and review of literature. Surg Neurol. 49(5):514-8; discussion 518-9, 1998
                                                28. Calore EE et al: Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family. Pathologica. 86(3):279-83, 1994
                                                29. Bird TD et al: Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 1993
                                                30. Vasilescu C: Hereditary motor and sensory neuropathy. Clinical, genetic and electrodiagnostic studies. Rom J Neurol Psychiatry. 31(3-4):207-19, 1993
                                                31. Chou SM: Immunohistochemical and ultrastructural classification of peripheral neuropathies with onion-bulbs. Clin Neuropathol. 11(3):109-14, 1992
                                                32. Gemignani F et al: Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. Acta Neuropathol (Berl). 83(2):196-201, 1992
                                                33. Choi SK et al: MR imaging in hypertrophic neuropathy: a case of hereditary motor and sensory neuropathy, type I (Charcot-Marie-Tooth). Clin Imaging. 14(3):204-7, 1990
                                                34. Bird TD: Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. Neurol Clin. 7(1):9-23, 1989
                                                Related Anatomy
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                                                Related Differential Diagnoses
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                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Top Differential Diagnoses

                                                      • Pathology

                                                        • Clinical Issues

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Synonyms

                                                              • Hereditary motor-sensory neuropathy (HMSN), hypertrophic neuropathy (HN), hereditary sensory neuropathy (HSN), hereditary motor neuropathy (HMN), hereditary sensory and autonomic neuropathy (HSAN), Charcot-Marie-Tooth (CMT) syndrome

                                                            • Definitions

                                                              • Clinically and genetically heterogeneous group of inherited disorders characterized by focal or diffuse peripheral nerve enlargement
                                                              • Subdivided into 3 main categories based on predominant involvement of motor &/or sensory nerves
                                                                • Both motor and sensory nerves affected → HMSN
                                                                  • HMSN I (CMT syndrome type I, CMT 1)
                                                                  • HMSN II (neuronal-type peroneal muscular atrophy, CMT 2)
                                                                  • HMSN III [Dejerine-Sottas disease (DSD), HN of infancy, congenital hypomyelinating neuropathy]
                                                                • Motor nerve fibers primarily → distal HMN, spinal CMT, distal spinal muscular atrophy
                                                                • Mainly peripheral sensory ± autonomic nerves → HSN or HSAN
                                                                • Hereditary neuropathy with liability to pressure palsies (HNPP)
                                                                  • Patients develop neuropathy following trivial or unrecognized nerve injury at entrapment points

                                                            IMAGING

                                                            • General Features

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Nonvascular Interventions

                                                                    • Other Modality Findings

                                                                      • Imaging Recommendations

                                                                        DIFFERENTIAL DIAGNOSIS

                                                                          PATHOLOGY

                                                                          • General Features

                                                                            • Staging, Grading, & Classification

                                                                              • Gross Pathologic & Surgical Features

                                                                                • Microscopic Features

                                                                                  CLINICAL ISSUES

                                                                                  • Presentation

                                                                                    • Demographics

                                                                                      • Natural History & Prognosis

                                                                                        • Treatment

                                                                                          DIAGNOSTIC CHECKLIST

                                                                                          • Consider

                                                                                            • Image Interpretation Pearls

                                                                                              Selected References

                                                                                              1. Attarian S et al: Hereditary neuropathy with liability to pressure palsies. J Neurol. ePub, 2019
                                                                                              2. Fridman V et al: Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1. Neurology. 92(4):e359-70, 2019
                                                                                              3. Pipis M et al: Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nat Rev Neurol. 15(11):644-56, 2019
                                                                                              4. Schwartzlow C et al: Hereditary sensory and autonomic neuropathies: adding more to the classification. Curr Neurol Neurosci Rep. 19(8):52, 2019
                                                                                              5. Tracy JA et al: Onion-bulb patterns predict acquired or inherited demyelinating polyneuropathy. Muscle Nerve. 59(6):665-70, 2019
                                                                                              6. Goedee SH et al: Distinctive patterns of sonographic nerve enlargement in Charcot-Marie-Tooth type 1A and hereditary neuropathy with pressure palsies. Clin Neurophysiol. 126(7):1413-20, 2015
                                                                                              7. Pitarokoili K et al: Nerve ultrasound in a case of multifocal motor neuropathy without conduction block. Muscle Nerve. 52(2):294-9, 2015
                                                                                              8. Berciano J et al: CMT1A duplication: refining the minimal adult phenotype. J Peripher Nerv Syst. 13(4):310-2, 2008
                                                                                              9. Chung KW et al: Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscul Disord. 18(8):610-8, 2008
                                                                                              10. Gallardo E et al: Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. J Neurol. 255(7):986-92, 2008
                                                                                              11. Somasundaram S et al: Hereditary spastic paraplegia with a thin corpus callosum. Pediatr Radiol. 37(5):503-5, 2007
                                                                                              12. Berciano J et al: Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study. J Neurol Neurosurg Psychiatry. 77(10):1169-76, 2006
                                                                                              13. Chung KW et al: Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 129(Pt 8):2103-18, 2006
                                                                                              14. Gallardo E et al: Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain. 129(Pt 2):426-37, 2006
                                                                                              15. Ellegala DB et al: Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. J Neurosurg. 102(2):242-5, 2005
                                                                                              16. Ertl-Wagner BB et al: [Hereditary motor and sensory neuropathy (HMSN) with hypertrophy of the cauda equina and concomitant demyelinating white matter lesions.] Radiologe. 45(7):593-6, 2005
                                                                                              17. Isoardo G et al: X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease. Neurology. 65(10):1672-3, 2005
                                                                                              18. Kassubek J et al: Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease. J Clin Neurosci. 12(5):588-9, 2005
                                                                                              19. Aho TR et al: Charcot-Marie-Tooth disease: extensive cranial nerve involvement on CT and MR imaging. AJNR Am J Neuroradiol. 25(3):494-7, 2004
                                                                                              20. Kretzer RM et al: Hypertrophic neuropathy of the cauda equina: case report. Neurosurgery. 54(2):515-8; discussion 518-9, 2004
                                                                                              21. Liao JP et al: Nerve root hypertrophy in CMT type 1A. Neurology. 62(5):783, 2004
                                                                                              22. Auer-Grumbach M et al: Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review. Arch Neurol. 60(3):329-34, 2003
                                                                                              23. Graham D et al: Greenfield's Neuropathology. 7th ed. Hodder Arnold. 628-32; 2002
                                                                                              24. Moore KR et al: The value of MR neurography for evaluating extraspinal neuropathic leg pain: a pictorial essay. AJNR Am J Neuroradiol. 22(4):786-94, 2001
                                                                                              25. Cellerini M et al: MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy. AJNR Am J Neuroradiol. 21(10):1793-8, 2000
                                                                                              26. Keller MP et al: Inherited peripheral neuropathy. Semin Neurol. 19(4):353-62, 1999
                                                                                              27. Hahn M et al: Hypertrophied cauda equina presenting as intradural mass: case report and review of literature. Surg Neurol. 49(5):514-8; discussion 518-9, 1998
                                                                                              28. Calore EE et al: Hypertrophic motor and sensory neuropathy type I (Charcot-Marie-Tooth disease): ultrastructural study of sural nerve biopsy in members of a family. Pathologica. 86(3):279-83, 1994
                                                                                              29. Bird TD et al: Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 1993
                                                                                              30. Vasilescu C: Hereditary motor and sensory neuropathy. Clinical, genetic and electrodiagnostic studies. Rom J Neurol Psychiatry. 31(3-4):207-19, 1993
                                                                                              31. Chou SM: Immunohistochemical and ultrastructural classification of peripheral neuropathies with onion-bulbs. Clin Neuropathol. 11(3):109-14, 1992
                                                                                              32. Gemignani F et al: Peroneal muscular atrophy with hereditary spastic paraparesis (HMSN V) is pathologically heterogeneous. Report of nerve biopsy in four cases and review of the literature. Acta Neuropathol (Berl). 83(2):196-201, 1992
                                                                                              33. Choi SK et al: MR imaging in hypertrophic neuropathy: a case of hereditary motor and sensory neuropathy, type I (Charcot-Marie-Tooth). Clin Imaging. 14(3):204-7, 1990
                                                                                              34. Bird TD: Hereditary motor-sensory neuropathies. Charcot-Marie-Tooth syndrome. Neurol Clin. 7(1):9-23, 1989