Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates |
| |
Authors: | Vincent Laugel Mireille Cossée Jacqueline Matis Anne de Saint-Martin Andoni Echaniz-Laguna Jean-Louis Mandel Dominique Astruc Michel Fischbach Jean Messer |
| |
Institution: | (1) Department of Pediatrics, Strasbourg University Hospital, Strasbourg Cedex, France;(2) Department of Genetics, Strasbourg University Hospital, Strasbourg Cedex, France;(3) Department of Neonatology, Strasbourg University Hospital, Strasbourg Cedex, France;(4) Department of Neurology, Strasbourg University Hospital, Strasbourg Cedex, France;(5) Service de Pediatrie 1, CHU Strasbourg-Hautepierre, Avenue Moliere, F-67098 Strasbourg Cedex, France |
| |
Abstract: | The objectives of our study were to determine the actual frequency of the different disorders causing neonatal hypotonia and
to assess the reliability of the first physical examination as well as the contribution of the main standard diagnostic tests.
One hundred and forty-four infants diagnosed with neonatal hypotonia between January 1st 1999 and June 30th 2005 in our tertiary
care facility were retrospectively included in the study. Perinatal history, clinical type of hypotonia, results of standard
diagnostic tests, final diagnosis and outcome were abstracted from the original charts. A final diagnosis was reached in 120
cases. Central (cerebral) causes represented 82% of the elucidated cases, mostly hypoxic and hemorrhagic lesions of the brain
(34%), chromosomal aberrations and syndromic disorders (26%) and brain malformations (12%). Peripheral (neuromuscular) causes
were mainly represented by spinal muscular atrophy (6%) and myotonic dystrophy (4%). Positive predictive value of the initial
clinical examination was higher in central type hypotonia. Neuroimaging, karyotype analysis and DNA-based tests were the most
helpful diagnostic tools. These recent clinical data can be used to improve our strategy in investigating neonatal hypotonia
and a diagnostic algorithm is proposed based on our findings. |
| |
Keywords: | Neonatal hypotonia Diagnostic algorithm Central hypotonia Peripheral hypotonia |
本文献已被 PubMed SpringerLink 等数据库收录! |
|