Federal University of São Paulo Department of Neurology and Neurosurgery Neuromuscular Disorders UnitHospital São CristovãoUNIFESP, Department of Neurology and Neurosurgery Neuromuscular Disorders UnitSciEL

Chieia, Marco A.

Felício, André Carvalho

Godeiro-Júnior, Clécio de Oliveira

Goldzveig, Jaime

Oliveira, Acary Souza Bulle

Schmidt, Beny

Arquivos de Neuro-Psiquiatria

Clecio Godeiro-Junior

Andre C. Felicio

Jaime Goldzveig

Marco A. Chieia

Benny Schmidt

Acary S.B. Oliveira

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An amyotrophic lateral sclerosis mimicker: eosinophilic fasciitis Fasceite eosinofílica simulando esclerose lateral amiotrófica

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An amyotrophic lateral sclerosis mimicker: eosinophilic fasciitis

Repositório Institucional UNIFESP

Arq Neuropsiquiatr 2008;66(4):888-890888Clinical / Scientific noteAn AmyotrophiC LAterAL SCLeroSiS mimiCkerEosinophilic fasciitisClecio Godeiro-Junior1, Andre C. Felicio1, Jaime Goldzveig2,  Marco A. Chieia1, Benny Schmidt1, Acary S.B. Oliveira1FASCeite eoSinoFÍLiCA SimULAnDo eSCLeroSe LAterAL AmiotrÓFiCA1Neuromuscular Disorders Unit, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo SP, Brazil; 2Rheumathologist, Hospital São Cristovão, São Paulo SP, Brazil.Received 10 June 2008, received in final form 3 September 2008. Accepted 19 September 2008.Dr. Clecio Godeiro-Junior – Rua Dr Diogo de Faria 650 / 33 - 04037-002 São Paulo SP - Brasil. E-mail: cleciojunior@yahoo.com.brEosinophilic fasciitis (EF) is a rare localized sclero-derma-like disorder1. Until today both the etiology and pathomechanism remain elusive. In general, the skin changes are symmetric and include an initial edema and erythema of the extremities, followed by ‘peau d’orange’ and woody skin induration in a later phase. The skin indu-ration can lead to joint contractures with limited mobili-ty. Laboratory tests may show hypergammaglobulinemia, peripheral eosinophilia and an elevated erythrocyte sed-imentation rate2. Clinical pictures of lower motor neu-ron (LMN) disease associated to EF have already been de-scribed3,4. The classical features of amyotrophic lateral sclerosis (ALS) are a combination of upper motor neu-ron (UMN) and LMN signs on examination and/or elec-tromyography (EMG) without sensory, extraocular mus-cle or sphincter involvement1. We present an unusual report of a patient with EF and clinical and EMG characteristics of a lower neuron disease suggestive of motor neuron disease (MND), such as ALS. We also discuss the role of clinical signs in differential di-agnosis of MND and some ALS mimickers.CASeA 35-year-old right-handed white man presented a 3-month history of fasciculations and loss of strength in right wrist. His medical record was unremarkble, except for a chronic complain of dry eyes, which did not interfere in his activities. He was an amateur sportist and used to play tennis regularly. Three months before his first evaluation he noticed that he could not extend his right wrist properly associated with an intermitent complaint of rigidity of his right arm. One month later, he started to pres-ent difficult for walking due to rigidity in his right leg.His general clinical examination was unremarkable, excpet for bilateral swollen knees. On neurological examination, he did not present any cognitive abnormality. His strength was normal, except for discrete limitation for flexion and extension of his right wrist. Deep tendon reflexes were normal, but we observed spontaneous fasciculations in both arms and legs. Coordination and sensitivity were preserved as well as cranial nerve functions.An EMG, including nerve conduction studies and needle EMG, was preformed. Motor nerve conduction studies yielded normal conduction velocities and distal motor latencies with low amplitude at the compound motor action potential. The re-sults of sensory-nerve conduction studies were normal. Needle EMG study showed spontaneous activity (fibrilations and pos-itive sharp waves), abundant fasciculations and changes in the configuration of motor unit potentials that were of increased interference patern indicative of a net motor unit loss bilater-ally, in myotomos C5, C6, C7, L5 and S1. There were also signs of denervation in rest in bilateral paravertebral lumbosacral mus-cles. These findings were consistent with a disorder of the LMN, their axons, as seen in ALS.A complete blood count was normal, except for mild eosyn-ophilia (760 eosynophilies, 9% of total leucocytes). There was no evidence of parasitic or other recognized cause of eosino-philia. Creatine kinase was 269 UI/mL and aldolase, 3.7 UI/mL. Levels of serum sodium, potassium, calcium, magnesium, phos-phorus, vitamin B12, folate, glucose, thyroid-stimulating hormon and creatine were normal, as were the results of liver function tests. FAN was positive 1:640, but other reumathologic tests, in-cluding, anti-Ro and anti-La were normal. He was tested for HIV, syphilis, hepatitis B and C, and the results were negative. Hyper-gammaglobulinemia was detected in serum analysis.Magnetic resonance imaging (MRI) of the right knee dis-closed edema of soft adjacent parts to the muscular bellies of the evaluated segment, of circunferencial aspect, and there was intense contrast enhacement. These characteristics were sugges-tive of inflammatory involvement of soft tissue (Fig 1A).The patient was submitted to muscle and skin biopsies . These biopsies disclosed thickned fascia, extending from the subcutaneous tissue to muscle. This striking increase in collag-enous conective tissue was accompained by an intense infiltra-Arq Neuropsiquiatr 2008;66(4) 889ALS mimicker: eosinophilic fasciitisGodeiro-Junior et al.tion of diffuse fasciitis with eosinophilia. Muscle fascile is im-aged (Fig 2). He was diagnosed with EF and treated with 60 mg predni-sone for one month, presenting complete resolution of his com-plains. Control MRI of his right knee, six month after treatment, was normal (Fig 1B).DiSCUSSionEF has been associated to neuropathies, but not with MND3,4. One of the clinical signs in our patient that point-ed out the possibility of MND was fasciculation. It is ob-served that spontaneous fasciculations may be noted by 70% of normal healthy individulas5. Alhough, in retro-spect, the first symptom in many patients with ALS may be cramps and fasciculations, it is exceptionally rare for patients later diagnosed with ALS to present on the time of diagnosis with fasciculation alone6. However, another report7 observed that twenty-one of 312 (6.7%) patients who fulfilled the criteria of typical ALS, had fasciculation as the first and only symptom at the time of diagnosis. The mean time interval between developing fasciculation and other defictis was 7.2 months. In our report we present a 35-year-old man with early-onset generalized fasciculations and an EMG compatible with MND. However, he also presented an unusual clinical symptom which is swollen knees. The presence of unusual symptoms in patients suspected to have ALS demands further investigation, especially if the patient presents the following ‘red flags’: age less than 40, history of early bowel/bladder involvement and possible exposure to toxic substances8.The findings of our subsidiary investigation disclosed Fig 1. (A) MRI of the right knee showing edema of soft adjacent parts to the muscular bellies of the evaluated segment, of circunferencial aspect, and there was intense contrast enhacement. (B) Con-trol MRI of his right knee was normalFig 2. Muscle and fascia biopsies disclosing thickned fascia, extending from the subcutaneous tissue to muscle, accompained by an intense infiltration with eosinophilia.Arq Neuropsiquiatr 2008;66(4)890ALS mimicker: eosinophilic fasciitisGodeiro-Junior et al.peripheral eosinophilia and histological evidence on the muscle/fascia of EF, mimicking a MND. Two mechanisms of neural damage induced by eosinophils have been pro-posed. One is the direct neurotoxic effect by eosinophil products, such as MBP, eosinophil-derived neurotoxin, and eosinophilic cationic protein. The other is the neural dam-age related to vasculitic involvement of the vasa nervo-rum9. The neurogenis findings on EMG study in our patient could be related to inflammatory involvement of mus-cle fiber mainly in nerve terminals. After administration of prednisone, fasciculations were completed resolved, showing that the clinical signs were directly caused by EF.This case illustrates that different diseases may mimic ALS, and that even if the EMG confirms the combination of active denervation and reeinervation, which is the hall-mark of ALS, we must search for an alternative diagnosis when the clinical signs are atypical.reFerenCeS 1. Jones HR Jr, Beetham WP Jr, Silverman ML, Margles SW. Eosinophilic fasciitis and the carpal tunnel syndrome. J Neurol Neurosurg Psychia-try 1986;49:324-327. 2. Satsangi J, Donaghy M. Multifocal peripheral neuropathy in eosino-philic fasciitis. J Neurol 1992;239:91-92. 3. Brooks BR, Miller RG, Swash M, Munsat TL. World Federation of Neu-rology Research Group on Motor Neuron Diseases. El Escorial revis-ited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000;1:293-299. 4. Antic M, Lautenschlager S, Itin PH. Eosinophilic fasciitis 30 years after: what do we really know? Report of 11 patients and review of the liter-ature. Dermatology 2006;213:93-101. 5. Reed DM, Krland LT. Mucle fasciculations in a healthy population. Arch Neurol 1963;9:363-367. 6. Carvalho M, Swash M. Cramps, muscle pain, and fasciculation: not la-ways benign? Neurology 2004;63:721-723. 7. Eisen A, Pant B, MacNeil M, Stewart H. Fasciculation as an initial fea-ture of amyotrophic lateral sclerosis. Can J Neurol Sci 1992;19:280. 8. Baek WS, Desai NP. ALS: pitfalls in the diagnosis. Pract Neurology 2007;7:74-81. 9. Moriguchi M, Terai C, Kuroki S, et al. Eosinophilic fasciitis complicat-ed with peripheral polyneuropathy. Intern Med 1998;37:417-420.