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Amyloidotic muscle pseudohypertrophy: case report.

R H Scola1, L C Werneck, C S Ramos

  • 1Serviço de Doenças Neuromusculares da Disciplina de Neurologia e de Propedêutica Médica, Departamento de Clínica Médica, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil. scola@hc.ufpr.br

Arquivos De Neuro-Psiquiatria
|October 6, 2001
PubMed
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This case study details primary systemic amyloidosis causing muscular pseudohypertrophy and weakness. Bone marrow transplantation stabilized the condition, showing subjective improvement in the patient.

Area of Science:

  • Neurology
  • Rheumatology
  • Pathology

Background:

  • Primary systemic amyloidosis is a rare condition characterized by the deposition of amyloid protein in various organs.
  • Muscular pseudohypertrophy, while not a classic symptom, can occur in certain systemic diseases.

Observation:

  • A 46-year-old woman presented with progressive weakness, macroglossia, and muscle hypertrophy.
  • Electromyography revealed a myopathic pattern and bilateral carpal tunnel syndrome.
  • Muscle biopsy confirmed type I and II fiber hypertrophy with interstitial and arterial amyloid infiltration.

Findings:

  • The patient was diagnosed with primary systemic amyloidosis manifesting as muscular pseudohypertrophy.
  • Amyloid deposition was observed in muscle interstitium and artery walls, alongside fiber hypertrophy.

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  • Electromyography findings were consistent with a myopathic process and nerve entrapment.

    • Implications:

    • This case highlights an unusual presentation of primary systemic amyloidosis involving significant muscular pseudohypertrophy.
    • Early diagnosis and intervention, such as bone marrow transplantation, may lead to clinical stabilization.
    • Further research into the mechanisms linking amyloidosis and muscle hypertrophy is warranted.