Non-union of fractures in Riley Day Syndrome

ABSTRACT

Riley Day Syndrome, also known as familial dysautonomia, is a rare reported entity characterised by disturbance of pain and temperature perceptions, inability to produce tears, labile blood pressure and poor growth due to disorder of the autonomic and sensory nervous system. It is an autosomal recessive condition with the genetic locus mapped to chromosome 9q31-q33. Traumatic fractures are common and due to lack of pain, may go unrecognised for prolonged periods of time, resulting in nonunion or pseudoarthrosis. Scoliosis is seen in up to 90% of the patients. Complications of are common in these patients and range from infection to wound breakdown to failure of fixation. We report a case (nineyear-old girl) of Riley Day Syndrome with general absence of pain and damage to the extremities to highlight this rare syndrome