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Congenital diaphragm weakness without neuromuscular disease
Author(s) -
Renault Francis,
Nicot Frederic,
Liptaï Zoltan,
Benharrats Tayeb,
Fauroux Brigitte
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20956
Subject(s) - diaphragm (acoustics) , medicine , neuromuscular disease , phrenic nerve , electromyography , muscle biopsy , weakness , diaphragmatic breathing , hypoplasia , pulmonary hypoplasia , respiratory failure , muscle weakness , respiratory system , anatomy , surgery , biopsy , physical medicine and rehabilitation , disease , pathology , pregnancy , fetus , biology , physics , alternative medicine , genetics , acoustics , loudspeaker
We report on two children presenting at birth with respiratory failure, bilateral diaphragmatic eventration, and floppiness. Electrodiagnostic studies of the limbs, and biochemical and DNA studies excluded generalized neuromuscular diseases. Phrenic nerve electrodiagnostic studies and electromyography of the diaphragm suggested isolated diaphragm hypoplasia. Diaphragm muscle biopsy showed a paucity of muscle fibers. Isolated hypoplasia of the diaphragm is a rare cause of neonatal respiratory failure, which may have a favorable outcome with long‐term ventilatory support. Muscle Nerve, 2008