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1.
Acad Pediatr ; 2024 May 18.
Article in English | MEDLINE | ID: mdl-38763263
2.
Acad Pediatr ; 2024 Jan 17.
Article in English | MEDLINE | ID: mdl-38242203
3.
Acad Pediatr ; 24(2): 182-183, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37481162
4.
Acad Pediatr ; 22(7): 1089-1090, 2022.
Article in English | MEDLINE | ID: mdl-35272032
5.
Acad Pediatr ; 20(5): 571-572, 2020 07.
Article in English | MEDLINE | ID: mdl-32360896
6.
Pediatrics ; 144(1)2019 07.
Article in English | MEDLINE | ID: mdl-31227563

ABSTRACT

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.


Subject(s)
Acyl-CoA Dehydrogenase, Long-Chain/deficiency , Congenital Bone Marrow Failure Syndromes/diagnosis , Lethargy/etiology , Lipid Metabolism, Inborn Errors/diagnosis , Mitochondrial Diseases/diagnosis , Muscle Hypotonia/etiology , Muscular Diseases/diagnosis , Congenital Bone Marrow Failure Syndromes/therapy , Diagnosis, Differential , Humans , Hypothermia/etiology , Infant, Newborn , Lipid Metabolism, Inborn Errors/therapy , Male , Mitochondrial Diseases/therapy , Muscular Diseases/therapy
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