title: Munchausen syndrome by proxy mimicking as Gaucher disease.
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.
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia. alowain@kfshrc.edu.sa
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Hamad
authors.initials: H
authors.lastname: Al-Zaidan
authors.forename: Amal
authors.initials: A
authors.lastname: Al-Hashem
authors.forename: Hoda
authors.initials: H
authors.lastname: Kattan
authors.forename: Abdullah
authors.initials: A
authors.lastname: Al-Dowaish
mesh_terms: D000740:Anemia / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000201:enzymology; D005962:Glucosylceramidase / Q000096:biosynthesis / Q000097:blood*; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007223:Infant; D009034:Mother-Child Relations; D009035:Mothers / Q000523:psychology*; D016735:Munchausen Syndrome by Proxy / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000523:psychology; D009190:Myelodysplastic Syndromes / Q000175:diagnosis; D018805:Sepsis / Q000209:etiology; D012803:Sick Role; D013163:Splenomegaly / Q000209:etiology; D013921:Thrombocytopenia / Q000209:etiology
chemical_list: D005962:Glucosylceramidase