Abstract
Patient: 12-day-old African-American male infant.
Chief Complaint: Failure to thrive, lethargy, feeding intolerance, and strong body odor.
History of Present Illness: The patient was the smaller of a pair of twins delivered by a 24-year-old primigravida at an outside institution. Because of this twin's intrauterine growth retardation, labor was induced at 36 weeks gestation. At birth, he weighed 3 pounds and 9 ounces. Over the first 9 days of life, he required intravenous (IV) glucose in addition to his Isomil feeds to maintain euglycemia. He was switched to breast milk on day 9 and subsequently developed feeding intolerance and emesis. On day 10, he became lethargic and developed a strong body odor. Laboratory tests revealed mildly elevated serum ammonia (206 mmol/L) with no acidosis. The next day he became progressively more lethargic and subsequently comatose; his serum ammonia was 1,396 mmol/L and there was no acidosis. At this time, he was transferred to our hospital.
Past Medical/Surgical History: The perinatal course had been apparently unremarkable.
Family/Social History: The twin sibling is apparently healthy.
Physical Examination Principal Laboratory Results: ( Table 1 )
Additional Diagnostic Procedures and Tests: Sonographic examination of the head showed symmetric increased echogenicity of the periventricular white matter and thalami. These were interpreted as nonspecific findings related either to a hypoxic event or to a metabolic disorder.
Lab Med. 2005;36(5):292-295. © 2005 American Society for Clinical Pathology
Cite this: A Neonate With Hyperammonemia - Medscape - May 01, 2005.
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