Congenital fibre type disproportion: an unusual presentation of respiratory failure

ABSTRACT

A 38-year-old lady, with a weeklong history of flu-like illness, presented acutely with type-2 respiratory failure needing mechanical ventilation. She had a known history of a rare subtype of congenital myopathy called congenital fibre type disproportion myopathy [CFTDM]. This condition most commonly presents as hypotonia in neonates and is characteristically non-progressive. It may present in children as generalised weakness, delayed milestones and skeletal deformities such as scoliosis and myopathic facies. To the best of our knowledge this is the first reported case of CFTDM contributing to respiratory failure in an adult patient. She made good recovery in four weeks and was discharged home on intermittent non-invasive ventilatory support