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Rigid spine syndrome revealing late-onset Pompe disease

Pascal Laforêt1, Valérie Doppler, Catherine Caillaud

  • 1Centre de référence de pathologie neuromusculaire Paris-Est, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France. pascal.laforet@psl.aphp.fr

Neuromuscular Disorders : NMD
|December 17, 2009
PubMed

Insights

Pompe disease, a rare genetic disorder, can manifest as rigid spine syndrome. Early diagnosis is crucial, even with mild symptoms, to consider Pompe disease in differential diagnoses.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Rigid spine syndrome is a rare condition characterized by progressive stiffness of the spine.
  • Differential diagnosis can be challenging, especially in atypical presentations.

Observation:

  • A 50-year-old male presented with rigid spine syndrome and walking difficulties since adolescence.
  • Cardiac and pulmonary functions were normal.
  • Muscle biopsy showed mild histopathological changes including vacuoles and increased glycogen.

Findings:

  • Leukocyte acid alpha-glucosidase staining was decreased.
  • Genetic analysis revealed two mutations in the acid alpha-glucosidase gene.
  • These findings confirmed a diagnosis of Pompe disease.

Implications:

  • Pompe disease should be considered in the differential diagnosis of rigid spine syndrome.
  • This includes cases without respiratory involvement or with mild muscle biopsy findings.
  • Highlights the importance of genetic testing for Pompe disease in suspected cases.

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