Hypophonia as only presenting symptom in myasthenia gravis - a diagnostic dilemma in poor countries: a case report

J Med Case Rep. 2019 Mar 2;13(1):48. doi: 10.1186/s13256-019-1970-6.

Abstract

Introduction: The autoimmune disease myasthenia gravis can mimic a variety of neurological disorders leading to a delay in diagnosis and treatment. In the older population, due to confusion with signs of the ageing process or comorbidities due to ageing, there are many underdiagnosed or misdiagnosed cases of myasthenia gravis. A majority of myasthenia gravis symptoms appear as ocular or motor symptoms and there are very few cases of bulbar symptoms. We present a case of myasthenia gravis with only hypophonia as a clinical feature.

Case presentation: We present a case of a 51-year-old Madheshi woman whose only complaint was sudden onset of hypophonia which later showed a fluctuating nature throughout the daytime. There was only reduced pitch in her voice with no nasal tone or dysarthria (so-called dysphonia), which created a diagnostic dilemma. Later, a neurological examination and other relevant investigations suggested myasthenia gravis.

Conclusions: Sudden onset and focal neurological deficit can raise the diagnostic dilemma of myasthenia gravis. Relevant laboratory tests and clinical examinations are important to diagnose this disease properly. In resources-deprived nations like Nepal, where several investigations are expensive and access to them is difficult, it becomes very difficult to achieve a solid diagnosis for rare presentations of diseases.

Keywords: Autoimmune; Bulbar; Case report; Hypophonia; Myasthenia gravis.

Publication types

  • Case Reports

MeSH terms

  • Anti-Inflammatory Agents / therapeutic use
  • Bulbar Palsy, Progressive / etiology
  • Bulbar Palsy, Progressive / pathology*
  • Bulbar Palsy, Progressive / therapy
  • Cholinesterase Inhibitors / therapeutic use*
  • Dysphonia / etiology
  • Dysphonia / pathology*
  • Female
  • Humans
  • Middle Aged
  • Myasthenia Gravis / complications
  • Myasthenia Gravis / diagnosis*
  • Myasthenia Gravis / therapy
  • Neostigmine / administration & dosage*
  • Neurologic Examination
  • Otorhinolaryngologic Surgical Procedures
  • Prednisolone / therapeutic use
  • Pyridostigmine Bromide / therapeutic use*
  • Recovery of Function
  • Treatment Outcome

Substances

  • Anti-Inflammatory Agents
  • Cholinesterase Inhibitors
  • Neostigmine
  • Prednisolone
  • Pyridostigmine Bromide