Neuropediatrics 2012; 43 - PS18_05
DOI: 10.1055/s-0032-1307141

Unusual presentation of juvenile Pompe disease in infancy with preceding immune thrombocytopenia

L Freudenberg 1, W Stenzel 2, M Laass 3, K Pargac 4, G Hahn 5, R Knöfler 3, H Goebel 2, V Mall 1, M Smitka 1, M von der Hagen 1
  • 1Abteilung für Neuropädiatrie, Universitätsklinikum Carl Gustav Carus Dresden, Dresden, Germany
  • 2Abteilung für Neuropatholgie, Charité Berlin, Berlin, Germany
  • 3Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Carl Gustav Carus Dresden, Dresden, Germany
  • 4Klinik für Kinder- und Jugendmedizin, Elblandklinikum Meißen, Meißen, Germany
  • 5Abteilung für Radiologie, Universitätsklinikum Carl Gustav Carus Dresden, Dresden, Germany

Aims: Glycogenosis type II (Pompe disease, GAA-gene, MIM#232300) is an autosomal-recessive storage disease caused by lysosomal acid alpha-1,4-glucosidase deficiency. The severity of the muscle-based manifestations in patients with the infant, juvenile and adult subtype depends on the degree of residual enzyme activity.

Methods: We describe the clinical course, the histological and molecular genetic analyses of a male infant diagnosed with glycogenosis type II.

Results: After an uneventful perinatal course and normal psychomotor development the infant presented at the age of 6 months with a thrombocytopenia of 11 Gpt/l (NR 150–400 Gpt/l), an increased level of CK, liver enzymes and LDH. The child was treated intermittently with corticosteroids and immunoglobulins for ITP which led to a temporary increase of thrombocytes (max. 34 Gpt/l). A bone marrow puncture revealed a normo-cellular bone marrow aspiration with normal quantity of megakaryocytes; the isolated thrombocytopenia and the effect of immunomodulation led to the clinical diagnosis of an ITP. At the age of 16 months the child exhibited mild muscular hypotonia, proximal muscle weaknesses and diminished tendon reflexes. An MRI revealed widespread muscle involvement. The histological and immunohistochemical analyses of the muscle biopsy showed large-scale vacuolar defects and an increased activity of acid phosphatase as a hallmark of glycogenosis type II. Molecular genetic analyses of the GAA-gene confirmed a glycogenosis type II (heterozygous mutations in intron 1 (c.32–13T>G) and exon 4 (c.701C>A, p.Thr.234Lys)).

Conclusion: We describe the clinical course the MR-Imaging and the histological results of a glycogenosis type II in an initially presymptomatic state. The coincidence of ITP and a glycogenosis type II has not been described yet. The observation, that the thrombocytes, the CK and the liver enzymes altered intermittently under immunemodulating therapy may enable further insights into the complex pathogenesis of myopathy in glykogenosis type II.

glykogenosis type II - Pompe disease - ITP