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BRIEF COMMUNICATIONS: K. Mori, N. Hattori, M. Sugiura, H. Koike, K. Misu, M. Ichimura, M. Hirayama, and G. Sobue Chronic inflammatory demyelinating polyneuropathy presenting with features of GBS Neurology 2002; 58: 979-982 [Abstract] [Full text] [PDF]

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Reply to Letter to the Editor

Gen Sobue, Keiko Mori, Naoki Hattori, and Masahiko Yamamoto   (16 August 2002)

Chronic inflammatory demyelinating polyneuropathy presenting with features of GBS

Isabelle Korn-Lubetzki, Israel Steiner   (16 August 2002)

Reply to Letter to the Editor 16 August 2002
Gen Sobue Nagoya University Graduate School of Medicine Nagoya Japan, Keiko Mori, Naoki Hattori, and Masahiko Yamamoto Send Correspondence to journal: Re: Reply to Letter to the Editor sandi_moriarity{at}urmc.rochester.edu Gen Sobue, et al.	We thank Drs. Korn-Lubetzki and Steiner for their interest in our article. [1] They raised an interesting issue on the relation between chronic inflammatory demyelinating polyneuropathy (CIDP) and hereditary neuropathy with liability to pressure palsy (HNPP), based on their experience of one family with the 17p12 mutation showing CIDP-like clinical features. Our five CIDP patients showed an acute form of onset mimicking GBS features subsequent to the preceding infectious events, developed a chronic course with demyelinating features, and three of the five responded to corticosteroid therapy. These clinical features are unusual for typical CIDP; however, those of our five patients are certainly different from those of HNPP, although the latter shows a variety of clinical manifestations. None of our patients had any histories of neuropathy in their families; they did not show any episodes of entrapment mononeuropathies; sural nerve biopsy specimens did not show myelin thickening-tomacula, a pathological hallmark of HNPP, [3] and immune therapy including corticosteroid therapy was effective for more than two years in all of our patients. Furthermore, we conducted a DNA study of the 17p12 mutation [4] in two of our patients with their informed consent. No mutations were found. The inflammatory neuropathic features in hereditary neuropathy including HNPP and also Charcot-Marie-Tooth disease (CMT) have long been debated. CIDP-like symptoms and clinical course have been recognized in HNPP. [5] Mononuclear cell invasion in the nerve fasciculus and corticosteroid responsiveness also have been recognized in these hereditary neuropathies. [6, 7] These observations may suggest that hereditary neuropathy with a certain DNA mutation is associated with inflammatory features. However, corticosteroid responsiveness is only transitory, while in our patients response was observed for years, and inflammatory neuropathic features in hereditary neuropathies are extremely limited and different from those in typical CIDP or GBS as observed in our patients. Another important aspect of our CIDP patients is the relation between unusual clinical features and their genetic background. Some genetic abnormality could modify the phenotypic manifestations of inflammatory neuropathies. The 17p12 mutation could be a candidate for a modifier gene for CIDP as Drs. Korn-Lubetzki and Steiner suggested, but this was not the case in our patients. In this context, it is important to explore the haplotype background, which influences CIDP phenotypes. These approaches would be needed to address why CIDP shows both variable clinical manifestations as well as variable therapeutic responses of the kind. References: 1. Mori K, Hattori N, Sugiura M, et al. Chronic inflammatory demyelinating polyneuropathy presenting with features of GBS. Neurology 2002;58:979-982. 2. Korn-Lubetzki I, Arbov Z, Raas-Rothschild A, Wirguin I. A family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. Am J Med Genet 2002; in press 3. Stogbauer F, Young P, Kuhlenbaumer G, De Jonghe P, Timmerman V. Hereditary recurrent focal neuropathies: clinical and molecular features. Neurology 2000 8;54:546-51. 4. Yamamoto M, Yasuda T, Hayasaka K, et al. Locations of crossover breakpoints within the CMT1A-REP repeat in Japanese patients with CMT1A and HNPP. Hum Genet 1997;99:151-154. 5. Mouton P, Tardieu S, Gouider R, et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999;52:1440-1446. 6. Gabreels-Festen AA, Gabreels FJ, Hoogendijk JE, Bolhuis PA, Jongen PJ, Vingerhoets HM. Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria. Acta Neuropathol 1993;86:630-635. 7. Donaghy M, Sisodiya SM, Kennett R, McDonald B, Haites N, Bell C. Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation. J Neurol Neurosurg Psychiatry 2000;69:799-805.
Chronic inflammatory demyelinating polyneuropathy presenting with features of GBS 16 August 2002
Isabelle Korn-Lubetzki Bikur Cholim Hospital Jerusalem Israel, Israel Steiner Send Correspondence to journal: Re: Chronic inflammatory demyelinating polyneuropathy presenting with features of GBS ikl{at}md.huji.ac.il Isabelle Korn-Lubetzki, et al.	We have read with interest the report by Mori et al. describing five patients with chronic inflammatory demyelinating polyneuropathy (CIDP) presenting with features of Guillain Barre syndrome (GBS). [1] The clinical presentation was unusual since these patients developed a chronic course following an initial acute phase. Diagnosis of demyelination was based on the nerve conduction studies, and confirmed by sural nerve biopsy in four patients. Perivascular lymphocytic invasion, however, was noted only in one patient. Three patients responded to corticosteroid therapy. We have recently reported a family (a father and two daughters) who developed inflammatory demyelinating polyneuropathy (IDP), within the genetic context of the 17p12 mutation, typical of hereditary neuropathy with liability to pressure palsy (HNPP). [2] Although their clinical course was somewhat unusual (acute in one patient, chronic in two; asymmetric involvement predominantly in the legs), IDP followed known triggers of disease (surgery or infection), and in the two treated patients, corticosteroid therapy was temporally associated with improvement. Sural nerve histology obtained from the father demonstrated demyelination without perivascular lymphocyte reaction. Neither in our patient nor in those reported by Mori et al., were tomacula detected on the nerve biopsy. [3] Suspecting that an asymptomatic and undiagnosed HNPP state may underlie IDP in a yet unrecognized percentage of patients, we have suggested that patients with an atypical, recurrent, and/or familial IDP, will be screened for the HNPP deletion. [2] Therefore we wonder whether the 17p12 mutation has been ruled out in Dr Mori’s reported patients. References 1. Mori K, Hattori N, Sugiura M, et al. Chronic inflammatory demyelinating polyneuropathy presenting with features of GBS. Neurology 2002;58:979-982. 2. Korn-Lubetzki I, Argov Z, Raas-Rothschild A, Wirguin I, Steiner I. A family with inflammatory demyelinating polyneuropathy and the HNPP 17p12 deletion. Am J Med Genet 2002;in press. 3. Stogbauer F, Young P, Kuhlenbaumer G, De Jonghe, Timmerman V. Hereditary recurrent focal neuropathies. Clinical and molecular features. Neurology 2000;54:546-551.