Lakhasly

A 3-month-old baby was brought to the emergency department by his parents who described the child's refusal to feed, lethargy, and rapid breathing rate.A second commercial laboratory confirmed the finding of ethylene glycol.The child was not responding to physical stimulation and was found to have severe acidosis, anion gap elevated at 26.3, and bicarbonate depressed to 3 mmol/L.This encouraged an extensive work-up which revealed that both children suffered from the same inherited metabolic disease, methylmalonic academia (MMA).A test reported acetone at 215 mg/L and ethylene glycol at 180 mg/L.The commercial laboratory reported an ethylene glycol of 911 mg/L at this time.Two months later, the child was brought to the ER by foster parents when he vomited, experienced muscle spasms, and hyperventilated.

A 3-month-old baby was brought to the emergency department by his parents who described the child’s refusal to feed, lethargy, and rapid breathing rate. The child was not responding to physical stimulation and was found to have severe acidosis, anion gap elevated at 26.3, and bicarbonate depressed to 3 mmol/L. The child also had hypoglycemia and was positive for urinary ketones. A test reported acetone at 215 mg/L and ethylene glycol at 180 mg/L. Because the parents could not explain the baby’s exposure to ethylene glycol, the child was removed from them and placed in protective custody.

Two months later, the child was brought to the ER by foster parents when he vomited, experienced muscle spasms, and hyperventilated. He had severe acidosis with pH 6.9. The child was resuscitated. The commercial laboratory reported an ethylene glycol of 911 mg/L at this time. A second commercial laboratory confirmed the finding of ethylene glycol. Despite treatment for ethylene glycol overdose, the child’s condition deteriorated and he died 3 days later.

One of the commercial laboratories also tested a baby bottle allegedly used by the biologic mother. When this bottle was positive for ethylene glycol the mother was arrested and charged with first degree murder. The mother went to prison while pregnant and delivered her second child. This child was placed in foster care. Two weeks later this baby showed the signs of his dead brother as severe acidosis. This encouraged an extensive work-up which revealed that both children suffered from the same inherited metabolic disease, methylmalonic academia (MMA).