Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Natural disease being mistaken for child abuse is rare. A two-year-old child was found unresponsive at home and transported to a local hospital, where she expired in the emergency room. Several cutaneous contusions were observed. Prior to the autopsy it was learned that an anonymous report of "child abuse" had been previously filed concerning this child. At autopsy there were multiple metasynchronous cutaneous contusions, but no radiologic or gross evidence of other injuries. A pericardial effusion, massive hepatosplenomegaly and generalized lymphadenopathy were apparent. The bone marrow, liver, spleen, lymph nodes, kidneys, pancreas, heart, stomach, and dura mater showed a monotonous lymphocytic infiltrate. Immunocytochemical studies confirmed the diagnosis of acute lymphoblastic leukemia of childhood. This case reaffirms the need for an objective examination of all cases by a forensic pathologist.
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PMID:Undiagnosed, untreated acute lymphoblastic leukemia presenting as suspected child abuse. 218 46

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.
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PMID:Munchausen syndrome by proxy mimicking as Gaucher disease. 2003 62