lites, many of which were not easily measurable prior to the introduction of thi

Question

lites, many of which were not easily measurable prior to the introduction of this technology. CASE STUDY 35-4 A normal appearing infant was identified with a posi- tive newborn screen. Prior to the introduction of tan- dem mass spectrometry into the newborn screening program, a sibling had been born who, in association with a viral illness, developed profound hypoglycemia, liver failure leading to coma, and subsequent irrepara- ble brain damage. The sibling was subsequently shown by clinical testing to have the same disorder that the newborn screened positively for. Questions 1. What is the most likely diagnosis? 2841 of 3040 1 page left in this chapter 8 9

Explanation / Answer

1. Hypoglycemic Encephalopathy is the diagnosis in this case as due to hypoglycemia the brain was starved and thus it lose its function leading to coma

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