Methylmalonic Acidemia
A 20 October 1991 St. Louis Post-Dispatch article describes a woman on trial for murder in the death of her 5 month old son:
Don't speculate that 5-month-old [boy] died of natural causes, [Prosecuting Attorney] McElroy told the jury. "You might as well speculate that some little man from mars came down and shot him full of some mysterious bacteria."
"Don't try to understand why [the mother] poisoned her child by feeding him from a baby bottle laced with antifreeze, he told them. "The point is she did it, only she could have done it," he said. "Only she would've done it."
The mother was convicted of murder and sentenced to life in prison without parole. The illness and death occurred as follows:
On the night of July 7, 1989, a Friday, [the mother] said she gave [her 3 month old son] his evening bottle before putting him to bed. The child immediately threw it up.
On Saturday, she said, the baby seemed to be feeling better. [The mother] went swimming at her sister's house and left [the baby] with her husband.
By Sunday morning, though, she said, [the baby's] condition had begun to deteriorate, he was lethargic, could not keep his food down and he was breathing hard, she said. She made arrangements to meet a doctor at the emergency room of Children's Hospital.
Click here to see the differential diagnoses for the findings in the text above using SimulConsult Diagnostic Decision Support. Methylmalonic acidemia and similar metabolic diseases are high in the differential diagnosis.
The family got lost on the way to St. Louis Children's Hospital and ended up at a different children's hospital, where the diagnosis of ethylene glycol poisoning was made:
On July 12, after a series of test that purportedly showed high levels of ethylene glycol in [the baby's] blood, pediatrician Dr. Robert Lynch signed an affidavit saying he believed the child might have been poisoned. The case was referred to the Missouri Division of Family Services. which placed [the baby] in protective custody almost immediately. [The baby] was discharged on July 17 and placed in a foster home.
On Sept. 4, four days after a brief visit with his mother. [the baby] was hospitalized a second time. The next day, [the mother], who authorities said had poisoned her son during the visit was arrested at her home, handcuffed and taken away in a police car as her husband followed behind. She would spend the next seven months in jail.
It was shortly after her arrest that [the mother] learned that her son had died.
The death elevates the probability of methylmalonic acidemia to be overwhelmingly probable in SimulConsult Diagnostic Decision Support (click here for the new differential diagnosis with the death included).
The mother was convicted even though she was pregnant when arrested and gave birth to a second child who was diagnosed, before her trial, as having methylmalonic acidemia. Only later did it become apparent that "one of the compounds that had been elevated by Ryan's disease could be confused with ethylene glycol", and the murder charges were dropped.
Knowledge of the diagnosis would not only have prevented the false accusation of the mother but would likely have been life saving for her son. An expert later determined that treatments used for ethylene glycol poisoning - "that included fasting and use of ethanol to limit the effects of ethylene glycol poisoning - were inappropriate for a child with MMA. In their wrongful death suit, the [parents] maintain that the misdiagnosis resulted in improper treatment that led to [the baby's] death."
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If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.