당뇨병성 말초신경병증과 유사한 증상을 가진 길랑-바레 증후군의 감각변이 - 증례 보고 -

최혜정,이중훈 대한근전도전기진단의학회 2014 대한근전도 전기진단의학회지 Vol.16 No.2

Sensory variant of Guillain-Barre syndrome is characterized by acute onset, rapidly progressive, and symmetricalsensory deficit without motor weakness. Electrodiagnostic examination is also compatible with apredominant sensory neuropathy. We experienced a rare case of sensory variant of Guillain-Barre syndromepresenting similar clinical features of diabetic peripheral neuropathy (DPN). This case described a74-year-old female with diabetes mellitus (DM) who presented with paresthesia on both hands and feet. Physical examination showed areflexia, impaired proprioception, sensory loss on both hands and feet, andataxia. Electrodiagnostic examination revealed axonal type sensory neuropathy. In addition, cerebrospinalfluid study showed protein elevation. She received intravenous immunoglobulin therapy as a treatment ofsensory variant of Guillain-Barre syndrome and symptoms improved dramatically thereafter. The possibilityof sensory variant of Guillain-Barre syndrome should be considered as the differential diagnosis ofDPN if DM patient has ataxia, areflexia, impaired proprioception and prompt immunoglobulin therapyshould also be considered.

Sensory Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Neglected Immunotherapy- Responsive Sensory Neuropathy

Shin J Oh,Peter King 대한신경과학회 2024 Journal of Clinical Neurology Vol.20 No.3

Background and Purpose To report an improvement with immunotherapy in 34 (85%)/40 patients who required an immunotherapy among 56 patients with sensory chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Methods Sensory CIDP was diagnosed when two inclusion criteria are met: 1) acquired, chronic progressive or relapsing symmetrical or asymmetrical sensory polyneuropathy that had progressed for >2 months; and 2) definite electrophysiological and/or biopsy evidence of demyelinating neuropathy. Results Fifty-six patients with sensory CIDP were identified. Evidence of demyelination was obtained from by the routine motor nerve conduction study (NCS) in 39 (70%) patients, from a nerve biopsy in 10, and from a near-nerve needle sensory NCS in 7 patients. The most prominent laboratory abnormality was a high protein level in the cerebrospinal fluid in 21 (49%) of 43 tested patients. Immunotherapy was required in 41 (79%) of the 52 followed-up patients. An improvement with immunotherapy was observed in 36 (88%)/41 patients. In three patients, motor weakness developed in 5–8 years’ follow-up period and so, their diagnosis was changed to CIDP. Conclusions Sensory CIDP is responded to an immunotherapy in 88% of the treated patients. Sensory CIDP was diagnosed by the routine motor NCS in 70% of patients and by a sural nerve biopsy in 18% of patients. Thus, sensory CIDP should be recognized as a treatable CIDP variant among the different types of “idiopathic sensory neuropathy.”

소아에서 말초신경병증의 임상적 고찰

이환석(Hwan Seok Lee),박우생(Woo Saeng Park),고철우(Cheol Woo Ko),손윤경(Yoon Kyung Sohn),권순학(Soon Hak Kwon) 대한소아신경학회 2003 대한소아신경학회지 Vol.11 No.1

목적 : 소아에서 말초신경병증의 임상적 양상을 분석해봄으로서 미흡한 국내 자료에 보탬이 되고 각 질환들의 조기진단 및 조기치료에 도움을 주고자 본 연구를 실시하게 되었다. 방법 : 2000년 1월부터 2002년 12월까지 만 3년간 경북대학교병원 소아신경클리닉에서 말초신경병증의 임상적 증상이 있거나 인슐린 의존형 당뇨병 환자로 내분비 클리닉에서 추적 관찰하는 아이들 가운데 신경생리검사에서 비정상 소견을 보여 말초신경질환을 가지고 있을 가능성이 많은 62명의 아이들을 대상으로 후향적 조사를 실시하였다. 이 가운데 임상소견 및 검사소견을 근거로 말초신경병증이 있는 것으로 생각되는 39명을 환자 군으로 분류하여 자료를 정리 및 분석하였고 신경생리검사에는 이상이 있었으나 임상적 이상이 없었던 대부분의 당뇨병 환자(subclinical diabetic neuropathy)는 제외시켰다. 결론 : 임상적으로 유의한 말초신경병증이 있는 39명(남 24명, 여자 15명; 평균연령 7.6±4.3세)을 병인에 따라 분류해 보면 염증성/면역성이 원인이 된 경우가 18례(Guillain Barre 증후군 5례, 만성 염증성 탈수초성 다발성 신경병증 1례, Bell 마비 12례)로 46%를 차지하여 가장 많았고, 유전성이 원인이 된 경우가 6례(유전성 운동감각 신경병증 3례, hereditary neuropathy with liability to pressure palsy 1례, 이염성 백질이영양증 2례)로 15%, vincristine을 포함한 항암제 치료와 관련된 경우가 3례(8%), 외상 2례(5%), 당뇨성 1례(3%), 원인 불명을 포함하여 기타 7례(23%)였다. 침범된 신경의 기능해부학적 혹은 임상적 분류를 했을 때 운동성 신경병증이 32례로 80%로 가장 많았고 이어서 혼합형 즉 운동 감각 신경병증이 6례로 15%, 감각성 신경병증 2례로 5%이었고 자율신경병증은 없었다. 손상된 신경의 수에 따른 분류를 보면 다발성 신경병증이 23례로 59%를 차지하여 가장 많았고, 이어서 단신경병증이 15례로 38%, 다단신경병증이 1례로 3%가 되었다. 병리조직학적으로 살펴보면 탈수초성 신경병증이 22례로 56%를 차지하여 가장 많았고 이어서 축삭성 신경병증이 12례로 31%, 혼합형이 5례로 13%가 되었다. 전기 생리학적 검사 결과를 비교해보면 정상치에 비해 탈수초성인 경우는 운동신경 전달속도가 감소되었고 활동 전위폭이 다소 감소된 소견을 보였으며, 축삭성인 경우는 운동 및 감각신경 활동 전위폭이 감소되고 운동신경 전달속도가 다소 감소된 소견을 보였고 각 군들간에 있어서는 운동신경 전달속도가 통계적으로 유의하게 차이가 있었다(P<0.05). 결론 : 염증성/면역성 말초신경병증이 소아에 있어서 가장 흔하였으며 유전성 신경병증 가운데에는 유전성 운동 감각 신경병증이 가장 많았다. 또한 염증성/면역성 말초신경병증이 주를 이루지만 치료가 가능한 경우가 약 46%를 차지했고 약물이나 사고 등과 같이 잠재적으로 발병이나 악화를 예방이 가능했던 경우가 36%이었다. Purpose : To analyze the clinical features of peripheral neuropathy in Korean children. Methods : A total of 62 children with acute flaccid paralysis, longstanding weakness of extremities, or abnormal electrophysiological studies, suggestive of peripheral neuropathy, were evaluated retrospectively from the hospital records. The subjects were recruited at the pediatric neurology and endocrine clinic, Kyungpook National University Hospital from 2000 to 2002 and they all went through neurological examination and electrophysiological studies with or without nerve biopsy. Results : Thirty nine children(Male 24 : Female 15; Mean age 7.6±4.3 years) were found to have clinical peripheral neuropathy. Inflammatory neuropathy(5 children with Guillain Barre syndrome, 1 children with chronic inflammatory demyelinating polyneuropathy, 12 children with Bell's palsy; 46%) was the most common, followed by hereditary neuropathy(4 children, 10%), Chemotherapy induced neuropathy(3 children, 8%), metachromatic leukodystrophy(2 children, 5%), trauma(2 children, 5%), diabetic neuropathy(1 children, 3%) and so on. Thirty two children had motor neuropathy(82%), six children had combined motor and sensory neuropathy(15%), two had pure sensory(5%), but nobody had autonomic neuropathy. With respect to the type of involvement, polyneuropathies constitute 59%(23 children), mononeuropathy simplex accounted for 38%(15 children), mononeuropathy multiplex was found in 3%(1 child). Based on electrophysiological studied and biopsy results, demyelinating neuropathy was seen in 22 children(56%), axonal neuropathy in 12 children(31%), combined neuropathy in 5 children(13%). Eighteen children(46%) were completely or almost completely recovered from the illness. Conclusion : Inflammatory neuropathy was the most common among the acquired neuropathies and hereditary motor sensory neuropathy was the most common among the genetic neuropathies. Treatable neuropathies took up 46%. Potentially preventable neuropathies accounted for 36%. Early diagnosis and early intervention may have significant impacts on the prognosis of peripheral neuropathy in children.

급성 자율 감각 신경병증 1례

이종문,권도영,고성범,김병조,박민규,박건우,이대희,Lee, Jong-Mun,Kwon, Do-Young,Koh, Seong-Beom,Kim, Byung-Jo,Park, Min-Kyu,Park, Kun-Woo,Lee, Dae-Hie 대한임상신경생리학회 2002 Annals of Clinical Neurophysiology Vol.4 No.1

Acute autonomic neuropathy is a rare disease. Since the first case was reported by Young et.al., in 1969, a number of similar cases have been described, with some variation of the accompanied neurologic deficits. Acute autonomic and sensory neuropathy(AASN) is characterized by the acute onset of autonomic dysfunction and sensory disturbances. A 16-year-old girl experienced high fever($40^{\circ}C$) and erythematous rash on whole trunk and face followed by pain and sensory loss over the whole body, dysphagia, ataxia, urinary retention, and postural hypotension. There was no evidence of limb weakness. The electrophysiologic studies of this patient revealed sensory polyneuropathy and the various autonomic function test showed autonomic dysfunction. The recovery of her autonomic and sensory symptoms is incomplete, three months after the onset of the symptoms. The etiology of the acute autonomic and sensory neuropathy is not known. Most previous authors have suggested the dysautonomia may be an acute immunological damage to peripheral fibers of the autonomic nervous system. We report a case of acute autonomic and sensory neuropathy.

유전성 말초신경병의 유전학

조선영(Sun Young Cho),최병옥(Byung-Ok Choi) 대한의학유전학회 2009 대한의학유전학회지 Vol.6 No.1

유전성 말초신경병은 유전운동감각신경병증, 유전운동신 경병증, 유전감각신경병증으로 분류된다. 이들은 세부 아형들로 더 세분화된다. 여기서 우리는 유전성 말초신경병증의 분자적 진단과 치료적 전략에 관한 최근의 발견을 제시하고자 한다. 유전성 말초신경병증의 표현형과 연관된 유전자의 산물은 신경구조유지, 축삭의 수송, 신경신호 변환, 세포보전과 관계된 기능들에 중요하다. 유전성 말초신경병증의 분자적 기초의 수립과 관련 유전자들과 그들의 기능에 관한 연구는 이러한 신경퇴행성 질환들의 병리 생리학적 기전과 말초신경계의 기능 및 정상적 발달에 관련된 일련의 과정을 이해하는데 중요하다. 말초신경병의 병인에대한 이해와 이러한 접근은 미래에 보조적 그리고 치유적 치료들을 개발하는데 있어 유전성 말초신경병증의 환자들의 진단과 관리에 도움이 될 것이다. Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into several subtypes. Here, we review the most recent findings in the molecular diagnosis and therapeutic strategy for hereditary peripheral neuropathies. The products of genes associated with hereditary peripheral neuropathy phenotypes are important for neuronal structure maintenance, axonal transport, nerve signal transduction, and functions related to the cellular integrity. Identifying the molecular basis of hereditary peripheral neuropathy and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, as well as the processes involved in the normal development and function of the peripheral nervous system. These advances and the better understanding of the pathogenesis of peripheral neuropathies represent a challenge for the diagnoses and managements of hereditary peripheral neuropathy patients in developing future supportive and curative therapies.

정중 감각신경 전도검사에 의한 당뇨병성 신경병증의 조기진단

정호중,김기찬,전포성,정상욱,김강련 고신대학교 의학부 1999 高神大學校 醫學部 論文集 Vol.14 No.1-2

Background To evaluate the diagnostic value of median sensory nerve conduction study in early phase of diabetic neuropathy. Methods The onset latency, duration, peak amplitude, and area of sensory nerve action potential (SNAP) of median nerve stimulated at wrist and elbow, respectively on 20 normal adults and 20 diabetic patients who revealed normal findings in conventional electrodiagnostic procedure were checked and compared. Results 1) The onset latency, peak amplitude, and area of SNAP stimulated at wrist of diabetic patients were significantly different than those of control group (p<0.05). 2) The conduction velocity, peak amplitude, and area of SNAP stimulated at elbow of diabetic patients were significantly different than those of control group (p<0.05). 3) The amplitude of SNAP stimulated at elbow on diabetic patient was most accurate parameter and next, the amplitude of median sensory nerve action potential stimulated at wrist. Conclusion The amplitude of median sensory nerve action potential stimulated at elbow are good quantitative indices of diabetic neuropathy who revealed normal findings in conventional electrodiagnostic procedure with positive neurologic symptom and physical examination.

정중 감각신경 전도검사에 의한 당뇨병성 신경병증의 조기진단

정호중,김기찬,전포성,정상욱,김강련 고신대학교(의대) 고신대학교 의과대학 학술지 1999 고신대학교 의과대학 학술지 Vol.14 No.1

Background : To evaluate the diagnostic value of median sensory nerve conduction study in early phase of diabetic neuropathy. Methods : The onset latency, duration, peak amplitude and area of sensory nerve action potential (SNAP) of median nerve stimulated at wrist and elbow, respectively on 20 normal adults and 20 diabetic patients who revealed normal findings in conventional electrodiagnostic procedure were checked and compared. Results : 1) The onset latency, peak amplitude, and area of SNAP stimulated at wrist of diabetic patients were significantly different than those of control group (p<0.05). 2) The conduction velocity, peak amplitude, and area of SNAP stimulated at elbow of diabetic patients were significantly different than those of control group (p<0.05). 3) The amplitude of SNAP stimulated at elbow on diabetic patient was most accurate parameter and next, the amplitude of median sensory nerve action potential stimulated at wrist. Conclusion : The amplitude of median sensory nerve action potential stimulated at elbow are good quantitative indices of diabetic neuropathy who revealed normal findings in conventional electrodiagnostic procedure with positive neurologic symptom and physical examination.

만성특발성보행실조 신경병증 1례

유영수,김광수,임정근,이동국,이상도,박영춘 啓明大學校 醫科大學 1993 계명의대학술지 Vol.12 No.1

Pure chronic sensory neuropathies affecting mainly the proprioceptive sensation and presenting as sensory ataxia with complete clinical preservation of motor power are unusual Chronic idiopathic ataxia neuropathy might to be a distinct form of an indolent, slowly progressive sensory neuroapthy, which remains unresponsive to therapies and causes severe long-term disability. The patient was a 32 year old man with slowly progressive disturbance in walking for 2 years. Neurologic findings were absent all DTR,impaired proprioceptive sensation and normal muscle power and there was no response to therapies. The laboratory findings were unremarkable except no electrical reponses on both sural nerves chronic demyelination on sural nerve biopsy. So we diagnosed this case as chronic idiopathic ataxic neuropathy.

Quantitative sudomotor axon reflex test (QSART) as a diagnostic tool of small fiber neuropathy

Bum-ChunSuh 대한임상신경생리학회 2022 Annals of Clinical Neurophysiology Vol.24 No.1

Small fiber neuropathy is a painful neuropathy that cannot be assessed using nerve conduc- tion studies. A skin biopsy and quantitative sensory testing (QST) are the gold standards for small fiber neuropathy diagnosis. However, a skin biopsy is invasive and commercially unavail- able in Korea. QST is a method involving a thermal threshold, but its results can be affected by cognition as well as lesions of the central nervous system. Quantitative sudomotor axon reflex test (QSART) is a quantitative method of assessing sweat glands innervated by small fibers. In this review, we assessed the utility of QSART in evaluating small fiber neuropathy.

파킨슨병에서 감각증상과 신경생리검사와의 연관성

조아라,송인욱,김영도,정성우 대한임상노인의학회 2010 대한임상노인의학회지 Vol.11 No.4

연구배경: 특발성 파킨슨병은 기저핵을 침범하는 신경퇴행성 질환으로써 말초신경은 보존된다고 생각되어 있다. 또한 말초신경병증과 파킨슨병의 연관성에 대한 연구도 매우 적은 실정이다. 하지만 최근 통증, 저린 감각을 포함한 애매모호한 감각증상을 파킨슨병의 환자의 40%에서 70%까지 호소하는 비운동성 증상의 하나로 인지하기 시작하였다. 따라서 본 저자들은 전기생리검사를 통하여 파킨슨병에서의 감각 증상이 말초신경병증과 관련 있는지에 대해 명확히 하고자 본 연구를 시행하였다. 방법: 통증, 저린 감각 그리고 감각둔마 같은 애매모호한 감각증상을 가진 파킨슨병 환자 25명이 본 연구에 참여하였다. 모든 파킨슨병 환자의 운동의 심한정도는 modified Hoehn and Yahr Stage (H & Y Stage)로 평가하였고, 말초신경병증의 동반여부를 명확히 하기 위해 전기생리검사를 시행하였다. 또한 운동증상의 심한 정도에 따라 두개의 군으로 나누었다. 즉 I군은 H & Y stage I 또는 II로 평가된 환자들로 구성하였고 II군은 H & Y stage III 또는 IV으로 평가된 환자들로 구성하여 말초신경병증과 파킨슨병의 심한정도와의 연관성을 분석하였다. 결과: 신경전도 검사상에서는 본원 정상수치보다 자신경의 감각 신경의 진폭의 저하와 장딴지 신경의 신경전도속도의 저하를 통계적으로 의미 있게 보였다. 파킨슨병의 운동증상의 심한 정도에 따른 비교는 I군과 II군간의 유의한 차이를 보이지 않았다. 하지만 레보도파 용량에 따른 연관성에 대해서는 자신경의 운동신경 진폭과 장딴지 신경의 감각신경 속도에 있어서 통계적으로 유의한 비정상 소견을 보였다. 결론: 신경생리검사를 시행하여 파킨슨병과 말초 신경병증의 연관성에 대해 분석한 본 예비 연구를 통하여 최근에 제안되고 있는 보고들처럼 항 파킨슨병 약물 중에서 레보 도파의 치료가 파킨슨병의 비운동성 증상의 일부로 설명되는 말초신경병증을 유발할 수 있다는 가능성을 제시하는 바이다. Background: Idiopathic Parkinson’s disease (IPD) is a neurodegenerative disorder involving the basal ganglia and it is thought to spare the peripheral nervous system. And there is little evidence associating peripheral neuropathy and IPD in the current literature However, ambiguous sensory symptoms including pain and numbness have been a well recognized nonmotor manifestation of IPD that affect between 40% and 75% of patients during their illness. Thus, we invested to clarify association peripheral neuropathy and IPD associated with sensory symptoms by using electrophysiological tests. Methods: We recruited 25 patients with IPD associated with ambiguous sensory symptoms, such as pain, numbness and hypoesthesia. All IPD patients were performed modified Hoehn and Yahr Stage (H & Y stage) to evaluate severity of motor symptoms of IPD and electrophysiological tests to clarify presence of neuropathy. We also categorized all patients into 2 groups according to H & Y stage (group I=H & Y stage I and II; group II=H & Y stage III and IV) and analyzed correlation between severity of IPD and peripheral nerve disorder. Results: Nerve conduction tests of our study demonstrated abnormal findings on sensory amplitude of ulnar nerve and nerve velocity of posterior tibial motor nerve, significantly. Our study showed no association between electrophysiological findings and motor severity of Parkinson’s disease according to H & Y stage but significant correlation between levodopa dosage and electrophysiological findings. Conclusion: In this study, we could show that IPD patents with sensory symptoms might have elelctrophysiological abnormalities and there was not association between motor severity and electrophysiological findings but association between levodopa dosage and electrophysiological findings. Therefore, we cautiously suggest that IPD is neurodegenerative disease involving peripheral nerve system as nonmotor symptoms, which was associated with levodopa dosage per day.