Hypotonia and Lethargy in a Two-Day-Old Male Infant

• Published in: Pediatrics (Evanston) Vol. 144; no. 1
• Main Authors: Long, Adrienne H, Fiore, Jennifer G, Gillani, Riaz, Douglass, Laurie M, Fujii, Alan M, Hoffman, Jodi D
• Format: Journal Article
• Language: English
• Published: United States 01.07.2019
• Subjects: Acyl-CoA Dehydrogenase, Long-Chain - deficiency; Congenital Bone Marrow Failure Syndromes - diagnosis; Congenital Bone Marrow Failure Syndromes - therapy; Diagnosis, Differential; Humans; Hypothermia - etiology; Infant, Newborn; Lethargy - etiology; Lipid Metabolism, Inborn Errors - diagnosis; Lipid Metabolism, Inborn Errors - therapy; Male; Mitochondrial Diseases - diagnosis; Mitochondrial Diseases - therapy; Muscle Hypotonia - etiology; Muscular Diseases - diagnosis; Muscular Diseases - therapy
• DOI: 10.1542/peds.2018-0788

A 2-day old term male infant was found to be hypotonic and minimally reactive during routine nursing care in the newborn nursery. At 40 hours of life, he was hypoglycemic and had intermittent desaturations to 70%. His mother had an unremarkable pregnancy and spontaneous vaginal delivery. The mother's prenatal serology results were negative for infectious risk factors. Apgar scores were 9 at 1 and 5 minutes of life. On day 1 of life, he fed, stooled, and voided well. Our expert panel discusses the differential diagnosis of hypotonia in a neonate, offers diagnostic and management recommendations, and discusses the final diagnosis.