Citation

Al-Owain M, Al-Zaidan H, Al-Hashem A, Kattan H, Al-Dowaish A. Eur. J. Pediatr. 2010; 169(8): 1029-1032.

Affiliation

Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, MBC # 75, P.O. Box 3354, Riyadh, 11211, Saudi Arabia, alowain@kfshrc.edu.sa.

Copyright

(Copyright © 2010, Holtzbrinck Springer Nature Publishing Group)

DOI

10.1007/s00431-009-1127-5

PMID

20039062

Abstract

Although rare, Munchausen syndrome by proxy (MBP) is a potentially life-threatening form of child abuse. Here, we report a 19-month-old female infant who presented with hepatosplenomegaly, anemia, thrombocytopenia, and recurrent septicemia. She was initially thought to have myelodysplastic syndrome. Further hematological and immunological investigations revealed no cause. beta-Glucosylceramidase enzyme activity on dried blood spot was suggestive of Gaucher disease. However, the enzyme level on cultured skin fibroblast was not consistent with Gaucher disease. The first hint about MBP was the recurrent sepsis with numerous gram negative rods. Furthermore, the mother's behavior and health history raised our suspicion about MBP. The child showed significant improvement after she was separated from the mother for a week. Finally, the mother confessed that she was spitting in local herbs and injecting it into the central line. This is, to our knowledge, the first report of MBP resembling in its presentation Gaucher disease. This case should alert the general and specialized pediatricians about MBP, as it may mimic metabolic diseases like Gaucher disease.

Language: en