Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent

Abstract

Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. We describe an unusual case of Riley-Day syndrome with pseudostrabismus in a non-Ashkenazi Jewish patient. A one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux and episodes of self-mutilation. Deep tendon reflexes were depressed, the blinking rate and corneal reflex were diminished as well and corneas were opaque due to corneal erosions. Reduced lacrimal production was confirmed by the Schirmer test. Eye drops were recommended every 2-3 hours for corneal erosion and the patient was referred to the genetics department for further diagnostic confirmation.