• Muscle & nerve · Sep 2008

    Case Reports

    Congenital diaphragm weakness without neuromuscular disease.

    • Francis Renault, Frederic Nicot, Zoltan Liptaï, Tayeb Benharrats, and Brigitte Fauroux.
    • Unité de Neurophysiologie Clinique de l'Enfant, Hôpital Armand-Trousseau, 26 avenue Arnold-Netter, 75571 Paris, France. francis.renault@trs.aphp.fr
    • Muscle Nerve. 2008 Sep 1; 38 (3): 1201-5.

    AbstractWe 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.

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