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57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

German Society for Neuropathology and Neuroanatomy

12. - 15.09.2012, Erlangen

57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

Histopathological findings in Pompe disease.

Meeting Abstract

  • presenting/speaker Adriana Ortiz - Instituto Nacional de Neurología y Neurocirugía, Neuropatología Experimental, México, D.F., Mexico
  • Luis Angel Ruano Calderón - Hospital General de Durango, Neurología, Durango, Mexico
  • Steven Vargas Cañas - Instituto Nacional de Neurología y Neurocirugía, Neuropatología Experimental, México, D.F., Mexico
  • Francisca Fernández Valverde - Instituto Nacional de Neurología y Neurocirugía, Neuropatología Experimental, México, D.F., Mexico
  • Armando Dumar Riaño - Instituto Nacional de Neurología y Neurocirugía, Neuropatología Experimental, México, D.F., Colombia; Hospital Universitario San Ignacio, Neurología, Bogotá, Colombia

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Erlangen, 12.-15.09.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. Doc12dgnnPP1.15

DOI: 10.3205/12dgnn033, URN: urn:nbn:de:0183-12dgnn0336

Published: September 11, 2012

© 2012 Ortiz et al.
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Outline

Text

Is a metabolic myopathy caused by a deficiency of alpha 1,4 acid-glucosidase (Acid maltase) responsible for the passage of glycogen to glucose. The gene for which is located at 19q25.2-25.3. For this reason the glycogen accumulates in both, lysosome and cytoplasm. Is a multisystem disease, muscle fiber is one of the main cells affected, resulting in axial and proximal weakness mainly, especially in the lower extremities. Frequently respiratory failure is due to compromise diaphragmatic. The diagnosis is based on clinical examination, electrophysiology and muscle biopsy. The treatment is based on rehabilitation, management of the respiratory failure and enzymatic replacement.

Clinical case: An 18yo male, began his illness since 6 years old with pelvic girdle paresis, difficulty to walk, climb stairs, stand up and make squats. Slow progression of the disease. Muscle mass decreases in both thighs. He had episodes of diarrhea, without abdominal pain or fever occasionally. He has had 3 episodes of bilateral amaurosis for a few minutes, without other symptoms.

Methods: Muscle biopsy was performed in the deltoid muscle, which is processed in isopentane precooled in liquid nitrogen. Cuts are made of eight microns thick. Staining techniques and histochemistry are H&E, Gomori trichrome and PAS.

Results: Muscle biopsies have a pronounced vacuolar appearance and periodic acid-Schiff (PAS) staining shows large deposits of glycogen in most fibers. Electron micrograph biopsy showing extensive loss of myofibrils an accumulation of glycogen, some of which is membrane bound.

Conclusions: In Biopsy, the PAS intensity is directly proportional to the acid maltase deficiency.