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Korean Journal of Pediatrics 2006;49(11):1158-1166.
Published online November 15, 2006.
Diagnostic classification and clinical aspects of floppy infants in the neonatal and pediatric intensive care units
Eun Sun Kim, Kyung Eun Jung, Sang Duk Kim, Eo Kyung Kim, Jong Hee Chae, Han Suk Kim, June Dong Park, Ki Joong Kim, Beyong Il Kim, Yong Seung Hwang, Jung-Hwan Choi
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
신생아 및 소아 중환자실에 입원한 늘어지는 영아(floppy infant)의 진단적 분류 및 임상적 고찰
김은선, 정경은, 김상덕, 김이경, 채종희, 김한석, 박준동, 김기중, 김병일, 황용승, 최중환
서울대학교 의과대학 소아과학교실
Correspondence:  Jung-Hwan Choi,
Email: neona@plaza.sun.ac.kr
Abstract
Purpose
: The purpose of this study is to make a diagnostic classification and discuss a diagnostic strategy of floppy infants by investigating clinical, neurological, electrophysiological, and genetic analysis of infants admitted to intensive care units with the complaint of hypotonia.
Methods
: A retrospective study was performed from Jan. 1993 to Dec. 2005 in neonatal and pediatric intensive care units of Seoul National University Children's Hospital. Clinical features and all tests related to hypotonia were investigated.
Results
: There were 21 cases of floppy infants admitted to intensive care units. Final diagnosis was classified as centra (7 cases[33.3 percent]), peripheral (11 cases [52.4 percent]), and unspecified (3 cases [14.3 percent]). Among the central group, three patients were diagnosed as hypoxic ischemic encephalopathy, two patients as Prader-Willi syndrome, one patient as chromosomal disorder, and one patient as transient hypotonia. Among the peripheral group, four patients were diagnosed as myotubular myopathy, three patients as SMA type 1, two patients as congenital myotonic dystrophy, one patient as congenital muscular dystrophy, and one as unspecified motor-neuron disease. Motor power was above grade 3 on average, and deep tendon reflex was brisk in the central group. Among investigations, electromyography showed 66 percent sensitivity in the peripheral group, and muscle biopsy was all diagnostic in the peripheral group. Brain image was diagnostic in the central group, and Prader-Willi FISH or karyotyping was helpful in diagnosis in central group. Morbidity and mortality was more severe in the peripheral group
Conclusion
: Classification of diagnosis by clinical characteristics in this study, and application of investigations step by step, may provide an effective diagnostic strategy.
Key Words: Floppy infant , Intensive care unit


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