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Abstract

Barnes Syndrome: A Case of De Novo with Progression to Severe Respiratory Failure

Barnes syndrome is a rare entity observed among thoracic dysplasia/hypoplasia with or without polydactyly. It is a very low frequency disease of autosomal dominant transmission with variable penetrance. It is characterized by a laryngeal stenosis, costal narrowing and reduced pelvic dimensions. We present the case of a 5-month-old patient who is admitted to our Intensive Care Unit for progressive respiratory failure. She was diagnosed in utero with probable asphyxiating thoracic using Magnetic Resonance Imaging. When the patient was two months old, a whole-body bone scan was made and ruled out the disease, diagnosing the patient with spondyloepiphyseal dysplasia congenita. On admission to our unit, she presented progressive worsening, despite non-invasive mechanical ventilation, requiring intubation. This intubation was not possible due to significant subglottic stenosis.

A tracheostomy was performed, and the patient was connected to mechanical ventilation. Fibrobronchoscopy was performed and showed significant laryngeal stenosis and a Chest CT showed severe obliteration of the proximal tracheal lumen. The bone scan showed chest narrowing and hypoplasia of the pelvis which, together with laryngeal stenosis, allowed the diagnosis of Barnes Syndrome. We proposed thoracic surgery in order to increase the size of the rib cage, thereby improving the lung function. The family refused consent and the patient died a month later after removal of ventilation (at the request of parents).


Author(s):

Raúl Montero Yéboles1*, Jesús López Herce1, Clara Molina1, María Herrera1, Amaya Bustinza1, Amelia Sánchez1, Adoración Blanco2 and María Antonia Casillas3



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