Amyloidotic muscle pseudohypertrophy: case report

Scola, Rosana Hermínia; Werneck, Lineü Cesar; Ramos, Cássio Slompo; Pasqüini, Ricardo; Graf, Hans; Arruda, Walter Olesko

doi:10.1590/s0004-282x2001000400018

Cited by 8 publications

(21 citation statements)

References 13 publications

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“…Autologous hematopoietic stem cell transplantation comprises the mainstay of treatment, with an estimated median survival of 40 months in transplant-eligible patients compared to 18 months in patients not eligible for the procedure; eligibility is determined by the degree of systemic disease and is in itself a favorable prognostic factor [23]. Prolonged remissions and reduction of muscle overgrowth can be achieved with stem cell transplantation [24], although such a gratifying outcome after 10 years of clinical progression is unusual. The rarity of amyloid myopathy precludes large randomized studies for the validation of optimal treatment strategies.…”

Section: Discussionmentioning

confidence: 99%

Chronic myopathy due to immunoglobulin light chain amyloidosis

Manoli¹,

Kwan²,

Wang³

et al. 2013

Molecular Genetics and Metabolism

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Amyloid myopathy associated with a plasma cell dyscrasia is a rare cause of muscle hypertrophy. It can be a challenging diagnosis, since pathological findings are often elusive. In addition, the mechanism by which immunoglobulin light-chain deposition stimulates muscle overgrowth remains poorly understood. We present a 53–year old female with a 10-year history of progressive generalized muscle overgrowth. Congo-red staining and immunohistochemistry revealed perivascular lambda light chain amyloid deposits, apparent only in a second muscle biopsy. The numbers of central nuclei and satellite cells were increased, suggesting enhanced muscle progenitor cell formation. Despite the chronicity of the light chain disease, the patient showed complete resolution of hematologic findings and significant improvement of her muscle symptoms following autologous bone marrow transplantation. This case highlights the importance of early diagnosis and therapy for this treatable cause of a chronic myopathy with muscle hypertrophy.

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Section: Discussionmentioning

confidence: 99%

Chronic myopathy due to immunoglobulin light chain amyloidosis

Manoli¹,

Kwan²,

Wang³

et al. 2013

Molecular Genetics and Metabolism

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“…Duchenne and Becker muscular dystrophies are common causes of calf pseudohypertrophy. Amyloidosis [31] and limb-girdle T2 imaging cannot distinguish between fatty deposition and edema-like changes. STIR imaging would have been helpful but was not performed in this case.…”

Section: Basic Patterns Of Abnormalitiesmentioning

confidence: 99%

MRI in myopathy

et al. 2004

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“…Scola et al (2) , em 2001, descreveram um caso de pseudohipertrofia muscular secundária à amiloidose e relataram…”

Section: Discussionunclassified

“…A forma primária apresenta a proteína fibrilar AL, cujos precursores são imunoglobulinas de cadeia leve: κ e λ (2) . Clinicamente, pode apresentar-se com ampla variedade de sinais e sintomas, dependendo dos órgãos acometidos, sendo mais comumente evidenciados proteinúria nefrótica, hepatoesplenomegalia, insuficiência cardíaca congestiva, síndrome do túnel do carpo e macroglossia (3,4) .…”

Section: Introductionunclassified

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Amiloidose manifestando-se com pseudo-hipertrofia muscular

Bortoli¹,

Lima²,

Queiroz³

et al. 2007

Rev. Bras. Reumatol.

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RESUMOAmiloidose tipo AL é uma doença rara causada pela deposição extracelular de fragmentos de cadeias leves monoclonais em órgãos e tecidos. Pode apresentar-se com uma ampla variedade de sinais e sintomas, e o acometimento cutâneo-muscular, simulando pseudo-hipertrofia muscular, é um achado muito raro. São descritos dois casos que apresentaram tal manifestação. Caso 1 -Mulher, 61 anos, há quatro meses com história de mialgia e aumento da massa muscular nas cinturas pélvica, escapular e região cervical. Não havia alterações significativas ao exame físico, exceto aparente hipertrofia muscular difusa e discreta macroglossia. Caso 2 -Homem, 51 anos, há dois anos com cansaço e espessamento cutâneo progressivo do dorso, pescoço e braços. Em outros serviços levantou suspeitas diagnósticas de esclerodermia ou de escleredema de Buschke; desde fevereiro de 2007 passou a ser acompanhado nesse serviço e referia, havia cerca de um ano, disfagia para sólidos, disartria e dificuldade para movimentar a língua. Chamava atenção em seu exame o porte físico atlético com musculatura torácica proeminente, porém referia não fazer exercícios físicos. Em ambos os casos, a biópsia cutânea foi realizada com identificação do depósito amilóide por meio da coloração de vermelho congo. Palavras-chave: amiloidose, pseudo-hipertrofia muscular.ABSTRACT AL amyloidosis is a rare disease secondary to extracellular deposition of light chains fragments in organs and tissues. It can cause a wide variety of signs and symptoms, being the muscular pseudohypertrophy form a very rare finding. Case 1 -a 61-yearold female had a history of myalgia and increase of muscular mass on pelvic and scapular girdle and cervical region. Besides the generalized muscular hypertrophy and discrete macroglossia, the rest of physical examination was normal. Case 2 -a 51-year-old male complained of tiredness and progressive cutaneous thickening on his thorax, neck and arms for the last two years. Initially, he was misdiagnosed with either scleredema of Buschke or scleroderma. In February 2007 he was referred to our service, reporting symptoms of dysphagia and difficulty to move his tongue. On physical examination, besides the skin thickness, there was an evident muscle hypertrophy out of proportion the reported exercise practice. In both cases, subcutaneous biopsy was undertaken which revealed amyloid deposit by congo red dye.

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Amyloidotic muscle pseudohypertrophy: case report

Cited by 8 publications

References 13 publications

Chronic myopathy due to immunoglobulin light chain amyloidosis

Chronic myopathy due to immunoglobulin light chain amyloidosis

MRI in myopathy

Amiloidose manifestando-se com pseudo-hipertrofia muscular

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